Veille Neuromusculaire / Neuromuscular bibliography Bibliographie sur les maladies neuromusculaires / Bibliography on neuromuscular disorders n° 2019-03-3 du 16 au 31 Mars 2019 (Mars 16 to 31, 2019)
Publiée tous les 15 jours par le service de documentation de l'AFM-Téléthon, la "Veille Neuromusculaire" contient les dernières références intégrées dans Pubmed. La liste des pathologies concernées par cette veille est celle de la Fiche Technique Savoir & Comprendre "Avancées médico-scientifiques neuromusculaires" publiée par l'AFM-Téléthon et mise à jour en octobre 2012. Vous trouverez les veilles précédentes sur notre portail documentaire dédié aux maladies neuromusculaires Myobase
Every two weeks, you will find in the “Neuromuscular Bibliography” the latest references published in Pubmed. The list of covered diseases comes from the October 2012 publication "Avancées médico-scientifiques neuromusculaires", Fiche technique Savoir & Comprendre published by AFM-Téléthon. Previous reports are available on Myobase, the information tool about neuromuscular diseases.
Sommaire par maladies / diseases Myoglobinaopathie – Myoglobinopathy ...... 3 Amyotrophies bulbospinales – Bulbospinal amyotrophies ...... 4 Amyotrophie spinale proximale liée à SMN1 – SMN1-related spinal muscular atrophy (SMA) ...... 5 Canalopathies musculaires – Muscular channelopathies...... 6 Dystrophies musculaires congénitales – Congenital muscular dystrophies ...... 6 Collagénopathies – Collagenopathies...... 7 Dystrophies musculaires d’Emery-Dreifuss – Emery-Dreifuss muscular dystrophies ...... 7 Dystrophinopathies, dystrophie musculaire de Duchenne, dystrophie musculaire de Becker – Dystrophinopathies ...... 8 Dystrophies musculaires des ceintures – Limb-girdle muscular dystrophies ...... 11 Dysferlinopathies – Dysferlinopathies ...... 11 Dystrophie musculaire facioscapulohumérale – Facioscapulohumeral muscular dystrophy (FSHD) 12 Dystrophie musculaire oculopharyngée (DMOP) – Oculopharyngeal muscular dystrophy (OPMD) ... 13 Dystrophies myotoniques – Myotonic dystrophies ...... 13 Fibrodysplasie ossifiante progressive (FOP) – Fibrodysplasia ossificans progressiva ...... 16 Maladie de Charcot-Marie-Tooth – Charcot-Marie-Tooth disease ...... 16 Myasthénie autoimmune – Myasthenia gravis ...... 19 Myopathies congénitales – Congenital myopathies ...... 22 Myopathies distales – Distal myopathies ...... 23 Myopathies liées à la dynamine-2 – Dynamin-2 related myopathies ...... 24 Myopathies liées à SEPN1 – SEPN1-related myopathies ...... 24 Myopathies inflammatoires – Inflammatory myopathies ...... 25 Myopathies métaboliques – Metabolic myopathies ...... 31 Maladie de Pompe – Pompe disease ...... 33 Myopathies mitochondriales – Mitochondrial myopathies ...... 34 Myopathies myofibrillaires – Myofibrillar myopathies...... 37 Titinopathies – Titinopathies ...... 37 Syndromes myasthéniques congénitaux – Congenital myasthenic syndrome ...... 37 Dystrophies musculaires (plusieurs pathologies) – Muscular dystrophies (Multiple) ...... 38
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Veille Neuromusculaire / Neuromuscular bibliography Bibliographie sur les maladies neuromusculaires / Bibliography on neuromuscular disorders n° 2019-03-3 du 16 au 31 Mars 2019 (Mars 16 to 31, 2019)
Maladies neuromusculaires (plusieurs pathologies) – Neuromuscular diseases (Multiple) ...... 38 Divers – Miscellaneous ...... 40 Sommaire par spécialités / specialties Anatomopathologie – Anatomical pathology ...... 43 Cardiologie – Cardiology ...... 43 Électromyographie – Electromyography ...... 45 Gastroentérologie / Nutrition – Gastroenterology / Nutrition ...... 46 Imagerie médicale – Medical imaging ...... 46 Médecine physique et de réadaptation – Physical and rehabilitation medicine ...... 46 Nephrologie – Nephrology ...... 47 Ophtalmologie – Ophthalmology ...... 47 Pneumologie – Pulmonogy ...... 48
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Veille Neuromusculaire / Neuromuscular bibliography Bibliographie sur les maladies neuromusculaires / Bibliography on neuromuscular disorders n° 2019-03-3 du 16 au 31 Mars 2019 (Mars 16 to 31, 2019)
Myoglobinaopathie – Myoglobinopathy 1. Nat Commun. 2019 Mar 27;10(1):1396. doi: 10.1038/s41467-019-09111-2. Myoglobinopathy is an adult-onset autosomal dominant myopathy with characteristic sarcoplasmic inclusions. Olivé M1, Engvall M2,3, Ravenscroft G4, Cabrera-Serrano M5, Jiao H6,7, Bortolotti CA8, Pignataro M9, Lambrughi M8, Jiang H10, Forrest ARR4, Benseny-Cases N11, Hofbauer S12, Obinger C12, Battistuzzi G9, Bellei M8, Borsari M9, Di Rocco G8, Viola HM13, Hool LC13,14, Cladera J15, Lagerstedt-Robinson K16, Xiang F17, Wredenberg A3,18, Miralles F19, Baiges JJ20, Malfatti E21,22, Romero NB21,22, Streichenberger N23, Vial C24, Claeys KG25,26, Straathof CSM27, Goris A28, Freyer C3,18, Lammens M29,30,31, Bassez G32, Kere J6,7,33,34, Clemente P18, Sejersen T17, Udd B35,36,37, Vidal N38, Ferrer I38,39, Edström L40, Wedell A2,3, Laing NG41. 1Neuropathology Unit, Department of Pathology and Neuromuscular Unit, Department of Neurology, IDIBELL-Hospital de Bellvitge, Hospitalet de Llobregat, Barcelona, 08907, Spain. [email protected]. 2Department of Molecular Medicine and Surgery, Science for Life Laboratory, Karolinska Institutet, Stockholm, SE-17176, Sweden. 3Centre for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, SE-17177, Sweden. 4Centre for Medical Research, University of Western Australia, Harry Perkins Institute of Medical Research, Perth, 6000, WA, Australia. 5Neurology Department and Instituto de Biomedicina de Sevilla, Hospital Universitario Virgen del Rocío, Seville, 41013, Spain. 6Department of Biosciences and Nutrition, Science for Life Laboratory, Karolinska Institutet, Stockholm, SE-14157, Sweden. 7Clinical Research Centre, Karolinska University Hospital, Huddinge, SE-17177, Sweden. 8Department of Life Sciences, University of Modena and Reggio Emilia, Modena, 41121, Italy. 9Department of Chemical and Geological Sciences, University of Modena and Reggio Emilia, Modena, 41121, Italy. 10School of Molecular Sciences, The University of Western Australia, 35 Stirling Highway, Crawley, 6009, WA, Australia. 11ALBA Synchrotron Light Source, Cerdanyola del Vallès, Barcelona, 08290, Spain. 12Division of Biochemistry, Department of Chemistry, Vienna Institute of BioTechnology, BOKU-University of Natural Resources and Life Sciences, Vienna, A-1180, Austria. 13School of Human Sciences, The University of Western Australia, Perth, 6000, Western Australia, Australia. 14Victor Chang Cardiac Research Institute, Darlinghurst, 2010, NSW, Australia. 15Unitat de Biofísica, Departament de Bioquímica i de Biologia Molecular, Facultat de Medicina, Universitat Autònoma de Barcelona, Bellaterra, 08193, Spain. 16Department of Molecular Medicine and Surgery, Karolinska Institutet, and Department of Clinical Genetics, Karolinska University Hospital, Solna, Stockholm, SE-17176, Sweden. 17Department of Women's and Children's Health, Karolinska Institutet, Stockholm, SE-17177, Sweden. 18Department of Medical Biochemistry and Biophysics, Karolinska Institutet, Stockholm, SE-17177, Sweden. 19Neurology Department, Hospital Son Espases, Palma de Mallorca, 07120, Spain. 20Neurology Department, Hospital Verge de la Cinta, Tortosa, 43500, Spain. 21Université Sorbonne, UPMC Univ Paris 06, INSERM; UMRS974, CNRS FRE3617, Center for Research in Myology, GH Pitié-Salpêtrière, 47 Boulevard de l'hôpital, 75013, Paris, France. 22Centre de Référence de Pathologie Neuromusculaire Paris-Est, Institut de Myologie, GHU Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, Paris, 75013, France. 23Centre de Pathologie et Neuropathologie Est, Hospices Civils de Lyon; Université Claude Bernard Lyon1, Institut NeuroMyogène CNRS UMR 5310-INSERM U1217; Institut NeuroMyogène, Villeurbanne, 69677, France. 24Electromyographie-Groupement Hospitalier Est, Hospices Civils de Lyon, 69677, France. 25Department of Neurology, University Hospitals Leuven, Leuven, 2333, Belgium. 26KU Leuven-University of Leuven, Laboratory for Muscle diseases and Neuropathies, Department of Neurosciences, Experimental Neurology, Leuven, 2333, Belgium. 27Department of Neurology, Leiden University Medical Center, Leiden, 2333, The Netherlands. 28KU Leuven-University of Leuven, Laboratory for Neuroimmunology, Department of Neurosciences, Experimental Neurology, Leuven, 2333, Belgium. 29Department of Pathology, Antwerp University Hospital, Edegem, 2650, Belgium. 30Laboratory of Neuromuscular Pathology, Institute Born-Bunge, University of Antwerp, Wilrijk, 2610, Belgium. 31Department of Pathology, Radboud University Medical Center, Nijmegen, 6525, The Netherlands. 32Neuromuscular Reference Center, Henri Mondor University Hospital AP-HP, INSERM U955, Team 10, Biology of the Neuromuscular System, East-Paris University (UPEC), Paris, 94010, France. 33Molecular Neurology Research Program, University of Helsinki and Folkhälsan Institute of Genetics, Helsinki, 00014, Finland. 34School of Basic and Medical Biosciences, King's College London, London, WC2R2LS, UK. 35Neuromuscular Research Center, Tampere University Hospital, University of Tampere, Tampere, 33521, Finland. 36Folkhälsan Genetic Institute, University of Helsinki, Helsinki, 00250, Finland. 37Neurology Department, Vasa Central Hospital, Vasa, Finland Neuromuscular Research Center, Tampere University Hospital, University of Tampere, Tampere, 65100, Finland. 38Neuropathology Unit, Department of Pathology and Neuromuscular Unit, Department of Neurology, IDIBELL-Hospital de Bellvitge, Hospitalet de Llobregat, Barcelona, 08907, Spain.
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Veille Neuromusculaire / Neuromuscular bibliography Bibliographie sur les maladies neuromusculaires / Bibliography on neuromuscular disorders n° 2019-03-3 du 16 au 31 Mars 2019 (Mars 16 to 31, 2019)
39Department of Pathology and Experimental Therapeutics, University of Barcelona, CIBERNEDHospitalet de LLobregat, Barcelona, 08907, Spain. 40Center for Molecular Medicine, Karolinska Institutet, Stockolm, 17177, Sweden. 41Centre for Medical Research, University of Western Australia, Harry Perkins Institute of Medical Research, Perth, 6000, WA, Australia. [email protected]. PMID: 30918256 PMCID:PMC6437160 DOI:10.1038/s41467-019-09111-2 Free PMC Article
Amyotrophies bulbospinales – Bulbospinal amyotrophies 2. Neurol Sci. 2019 Mar 26. doi: 10.1007/s10072-019-03850-2. [Epub ahead of print] Preliminary design and validation of the "6-K-scale" for bulbar symptoms evaluation in SBMA. Giorgia Q1,2, Irene B3, Laura M1, Ilaria M1, Cinzia B1, Elena P1, Sorarù G4,5. 1Neuromuscular Center, Department of Neurosciences, University of Padova, Padua, Italy. 2Laboratoire d'Imagerie Biomédicale, CNRS, INSERM, Sorbonne Universités, UPMC Univ Paris 06, Paris, France. 3UOC Neurologia, ULSS 2 Serenissima, Ospedale dell'Angelo, Venezia-Mestre, Italy. 4Neuromuscular Center, Department of Neurosciences, University of Padova, Padua, Italy. [email protected]. 5Clinica Neurologica, Azienda Ospedaliera di Padova, via Giustiniani 2, 35133, Padua, Italy. [email protected]. KEYWORDS: Bulbar symptoms; Functional scale; Outcome measures; SBMA PMID: 30915613 DOI:10.1007/s10072-019-03850-2
3. Int J Mol Sci. 2019 Mar 15;20(6). pii: E1314. doi: 10.3390/ijms20061314. Disease Affects Bdnf Expression in Synaptic and Extrasynaptic Regions of Skeletal Muscle of Three SBMA Mouse Models. Halievski K1, Nath SR2, Katsuno M3, Adachi H4, Sobue G5, Breedlove SM6, Lieberman AP7, Jordan CL8,9. 1Neuroscience Program, 108 Giltner Hall, Michigan State University, East Lansing, MI 48824-1115, USA. [email protected]. 2Department of Pathology, University of Michigan Medical School, Ann Arbor, MI 48109, USA. [email protected]. 3Department of Neurology, Nagoya University Graduate School of Medicine, 65 Tsurumai-cho, Showa-ku, Nagoya 466- 8550, Japan. [email protected]. 4Department of Neurology, University of Occupational and Environment Health School of Medicine, 1-1 Iseigaoka, Yahatanishi-ku, Kitakyushu Fukuoka 807-8555, Japan. [email protected]. 5Department of Neurology, Nagoya University Graduate School of Medicine, 65 Tsurumai-cho, Showa-ku, Nagoya 466- 8550, Japan. [email protected]. 6Neuroscience Program, 108 Giltner Hall, Michigan State University, East Lansing, MI 48824-1115, USA. [email protected]. 7Department of Pathology, University of Michigan Medical School, Ann Arbor, MI 48109, USA. [email protected]. 8Neuroscience Program, 108 Giltner Hall, Michigan State University, East Lansing, MI 48824-1115, USA. [email protected]. 9Physiology Department, 108 Giltner Hall, Michigan State University, East Lansing, MI 48824-1115, USA. [email protected]. KEYWORDS: SBMA; extrasynaptic; gene expression; muscle; neurotrophic factors; synaptic PMID: 30875922 DOI:10.3390/ijms20061314 Free full text
4. Toxicol Appl Pharmacol. 2019 Mar 26. pii: S0041-008X(19)30114-0. [Epub ahead of print] Validation of a multiplexed LC-MS/MS clinical assay to quantify insulin growth factor binding proteins in human serum and its application in a clinical study. Liu N1, Tengstrand E1, Boernsen O2, Bek S3, Hsieh F4. 1Nextcea Inc., 500 West Cummings Park #4550, Woburn, MA 01801, USA. 2Advanced Osteotomy Tools AG, Wallstrasse 6, CH-4051 Basel, Switzerland. 3F.Hoffmann-La Roche Ltd, Gartenstrasse 9, CH-4070 Basel, Switzerland. 4Nextcea Inc., 500 West Cummings Park #4550, Woburn, MA 01801, USA. Electronic address: [email protected]. KEYWORDS: Alkylation reagent; Insulin-like growth factor-binding proteins; LC–MS/MS; Matrix effect; Protein quantitation; Spinal and bulbar muscular atrophy PMID: 30926377 DOI:10.1016/j.taap.2019.03.024
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Amyotrophie spinale proximale liée à SMN1 – SMN1-related spinal muscular atrophy (SMA) 5. Adv Ther. 2019 Mar 16. doi: 10.1007/s12325-019-00923-8. [Epub ahead of print] Survival, Motor Function, and Motor Milestones: Comparison of AVXS-101 Relative to Nusinersen for the Treatment of Infants with Spinal Muscular Atrophy Type 1. Dabbous O1, Maru B1, Jansen JP2, Lorenzi M2, Cloutier M3, Guérin A3, Pivneva I3, Wu EQ4, Arjunji R1, Feltner D1, Sproule DM5. 1AveXis, Inc., Bannockburn, IL, USA. 2Precision Xtract, Oakland, CA, USA. 3Analysis Group, Inc., Montreal, Canada. 4Analysis Group, Inc., Boston, MA, USA. 5AveXis, Inc., Bannockburn, IL, USA. [email protected]. KEYWORDS: AVXS-101; Indirect treatment comparison; Neuroscience; Nusinersen; Onasemnogene abeparvovec; Spinal muscular atrophy type 1 (SMA type 1) PMID: 30879249 DOI: 10.1007/s12325-019-00923-8
6. Life Sci Alliance. 2019 Mar 25;2(2). pii: e201800268. doi: 10.26508/lsa.201800268. Print 2019 Apr. Drug screening with human SMN2 reporter identifies SMN protein stabilizers to correct SMA pathology. Wang Y1, Xu C2,3, Ma L1,4,5, Mou Y2,3, Zhang B1, Zhou S1, Tian Y1, Trinh J2, Zhang X6,4,5,7,8,9, Li XJ10,3. 1Brain and Spinal Cord Innovative Research Center, Tongji Hospital, Tongji University School of Medicine, Shanghai, China. 2Department of Biomedical Sciences, University of Illinois College of Medicine Rockford, Rockford, IL, USA. 3Department of Bioengineering, University of Illinois at Chicago, Chicago, IL, USA. 4Key Laboratory of Reconstruction and Regeneration of Spine and Spinal Cord Injury, Ministry of Education, Shanghai, China. 5Key Laboratory of Neuroregeneration of Shanghai Universities, Tongji University, School of Medicine, Shanghai, China. 6Brain and Spinal Cord Innovative Research Center, Tongji Hospital, Tongji University School of Medicine, Shanghai, China [email protected]. 7Tsingtao Advanced Research Institute, Tongji University, Shanghai, China. 8Shanghai Institute of Stem Cell Research and Clinical Translation, Shanghai, China. 9Translational Medical Center for Stem Cell Therapy, Shanghai East Hospital, Tongji University School of Medicine, Shanghai, China. 10Department of Biomedical Sciences, University of Illinois College of Medicine Rockford, Rockford, IL, USA [email protected]. PMID: 30910806 PMCID:PMC6435041 DOI: 10.26508/lsa.201800268 Free PMC Article
7. Prog Med Chem. 2019;58:119-156. doi: 10.1016/bs.pmch.2018.12.003. Epub 2019 Feb 1. Rewriting the (tran)script: Application to spinal muscular atrophy. Ratni H1, Mueller L2, Ebeling M2. 1F. Hoffmann-La Roche Ltd., pRED, Pharma Research & Early Development, Roche Innovation Center Basel, Basel, Switzerland. Electronic address: [email protected]. 2F. Hoffmann-La Roche Ltd., pRED, Pharma Research & Early Development, Roche Innovation Center Basel, Basel, Switzerland. KEYWORDS: Alternative splicing; RNA; Safety; Selectivity; Small molecules; Spinal muscular atrophy; Splice switching oligonucleotides PMID: 30879473 DOI:10.1016/bs.pmch.2018.12.003 [Indexed for MEDLINE]
8. Exp Ther Med. 2019 Apr;17(4):2561-2566. doi: 10.3892/etm.2019.7216. Epub 2019 Jan 29. Prediction of key gene function in spinal muscular atrophy using guilt by association method based on network and gene ontology. Yang W1, Han J2, Ma J1, Feng Y3, Hou Q1, Wang Z1, Yu T4. 1Department of Spine Surgery, The Affiliated Hospital of Qingdao University, Qingdao, Shandong 266071, P.R. China. 2Department of Ophthalmology, The Affiliated Hospital of Qingdao University, Qingdao, Shandong 266071, P.R. China. 3Hepatobiliary Surgery, The Affiliated Hospital of Qingdao University, Qingdao, Shandong 266071, P.R. China. 4Sports Medicine, The Affiliated Hospital of Qingdao University, Qingdao, Shandong 266071, P.R. China. KEYWORDS: co-expression; gene function; gene ontology; guilt by association; network; spinal muscular atrophy PMID: 30906446 PMCID:PMC6425128 DOI:10.3892/etm.2019.7216 Free PMC Article
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9. Genome Res. 2019 Apr;29(4):635-645. doi: 10.1101/gr.234443.118. Epub 2019 Mar 20. Resolving the full spectrum of human genome variation using Linked-Reads. Marks P1, Garcia S1, Barrio AM1, Belhocine K1, Bernate J1, Bharadwaj R1, Bjornson K1, Catalanotti C1, Delaney J1, Fehr A1, Fiddes IT1, Galvin B1, Heaton H1, Herschleb J1, Hindson C1, Holt E2, Jabara CB1, Jett S1, Keivanfar N1, Kyriazopoulou- Panagiotopoulou S1, Lek M3,4, Lin B1, Lowe A1, Mahamdallie S2, Maheshwari S1, Makarewicz T1, Marshall J4, Meschi F1, O'Keefe CJ1, Ordonez H1, Patel P1, Price A1, Royall A1, Ruark E2, Seal S2, Schnall-Levin M1, Shah P1, Stafford D1, Williams S1, Wu I1, Xu AW1, Rahman N2, MacArthur D3,4, Church DM1. 110x Genomics, Pleasanton, California 94566, USA. 2The Institute of Cancer Research, Division of Genetics and Epidemiology, London SM2 5NG, United Kingdom. 3Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts 02114, USA. 4Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA. PMID: 30894395 DOI:10.1101/gr.234443.118Free full text
10. Expert Opin Pharmacother. 2019 Mar 20:1-4. doi: 10.1080/14656566.2019.1595585. [Epub ahead of print] Is there hope for spinal muscular atrophy synthetic pharmacotherapy? Riessland M1. 1a Laboratory of Molecular and Cellular Neuroscience , The Rockefeller University , New York , NY , USA. KEYWORDS: Antisense oligonucleotides (ASO); nusinersen; spinal cord; spinal muscular atrophy; splicing correction therapy; survival of motor neuron () PMID: 30892979 DOI:10.1080/14656566.2019.1595585 Similar articlesRemove from clipboard
11. Front Mol Neurosci. 2019 Mar 4;12:59. doi: 10.3389/fnmol.2019.00059. eCollection 2019. Molecular Mechanisms Underlying Sensory-Motor Circuit Dysfunction in SMA. Shorrock HK1,2, Gillingwater TH1,2, Groen EJN1,2. 1Edinburgh Medical School: Biomedical Sciences, The University of Edinburgh, Edinburgh, United Kingdom. 2Euan MacDonald Centre for Motor Neurone Disease Research, The University of Edinburgh, Edinburgh, United Kingdom. KEYWORDS: SMN; motor neuron; neurodegenaration; proprioception; sensory-motor circuit; spinal muscular atrophy PMID: 30886572 PMCID:PMC6409332 DOI:10.3389/fnmol.2019.00059 Free PMC Article
12. Pediatr Pulmonol. 2019 Mar 18. doi: 10.1002/ppul.24315. [Epub ahead of print] Turning the tide in spinal muscular atrophy: A different respiratory course. Mayer OH1. 1Division of Pulmonology, The Children's Hospital of Philadelphia, The Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania. PMID: 30884211 DOI:10.1002/ppul.24315
Canalopathies musculaires – Muscular channelopathies 13. Rom J Intern Med. 2019 Jan 1. pii: /j/rjim.ahead-of-print/rjim-2019-0004/rjim-2019-0004.xml. [Epub ahead of print] Hypokalemic Periodic Paralysis- the importance of patient education. Lewis KL1, Malouff TD2, Kesler AM1, Harris DM1. 1Division of Community Internal Medicine, Mayo Clinic, San Pablo Rd, Jacksonville, Florida, USA. 2Department of Radiation Oncology, Mayo Clinic, San Pablo Rd, Jacksonville, Florida, USA. KEYWORDS: hypokalemia; muscle weakness; neuromuscular disorders; periodic paralysis PMID: 30901316 DOI: 10.2478/rjim-2019-0004
Dystrophies musculaires congénitales – Congenital muscular dystrophies 14. Clin Neuropathol. 2019 Mar 22. doi: 10.5414/NP301137. [Epub ahead of print] Missense mutations in LAMA2 causing a new phenotype of mild cognitive impairment, proximal myopathy, seizure, and severe leukoencephalopathy: A case report and protein analysis.
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Ding M, Wang X, Zeng Y, Lu Z, Cai S, Gao M, Zhu W, Luo S, Zhao C, Xiao Z. PMID: 30900984 DOI:10.5414/NP301137
Collagénopathies – Collagenopathies 15. J Mol Med (Berl). 2019 Mar 29. doi: 10.1007/s00109-019-01766-0. [Epub ahead of print] Role of adiponectin in the metabolism of skeletal muscles in collagen VI-related myopathies. Gamberi T1, Magherini F1, Mannelli M1, Chrisam M2, Cescon M2, Castagnaro S2, Modesti A1, Braghetta P2, Fiaschi T3. 1Dipartimento di Scienze Biomediche, Sperimentali e Cliniche "Mario Serio", Università degli Studi di Firenze, viale Morgagni 50, 50134, Florence, Italy. 2Dipartimento di Medicina Molecolare, Università degli Studi di Padova, Padua, Italy. 3Dipartimento di Scienze Biomediche, Sperimentali e Cliniche "Mario Serio", Università degli Studi di Firenze, viale Morgagni 50, 50134, Florence, Italy. [email protected]. KEYWORDS: Metabolism; Myophatic phenotype; Plasma adiponectin PMID: 30927046 DOI:10.1007/s00109-019-01766-0
16. JCI Insight. 2019 Mar 21;4(6). pii: 124403. doi: 10.1172/jci.insight.124403. eCollection 2019 Mar 21. A recurrent COL6A1 pseudoexon insertion causes muscular dystrophy and is effectively targeted by splice-correction therapies. Bolduc V1, Foley AR1, Solomon-Degefa H2, Sarathy A1, Donkervoort S1, Hu Y1, Chen GS1, Sizov K1, Nalls M1, Zhou H3,4, Aguti S3, Cummings BB5,6, Lek M5, Tukiainen T5,6, Marshall JL6, Regev O7, Marek-Yagel D8, Sarkozy A3, Butterfield RJ9, Jou C10,11,12, Jimenez-Mallebrera C11,12, Li Y13, Gartioux C14, Mamchaoui K14, Allamand V14, Gualandi F15, Ferlini A3,15, Hanssen E16; COL6A1 Intron 11 Study Group, Wilton SD17,18, Lamandé SR19,20, MacArthur DG5,6, Wagener R2, Muntoni F3,21, Bönnemann CG1. 1Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, Maryland, USA. 2Center for Biochemistry, Faculty of Medicine and Center for Molecular Medicine Cologne, University of Cologne, Cologne, Germany. 3Dubowitz Neuromuscular Centre, UCL Institute of Child Health & Great Ormond Street Hospital for Children, London, United Kingdom. 4Genetics and Genomic Medicine Programme, UCL Great Ormond Street Institute of Child Health, London, United Kingdom. 5Analytical and Translation Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts, USA. 6Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA. 7Courant Institute of Mathematical Sciences, New York University, New York, USA. 8Metabolic Disease Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, Israel. 9Department of Neurology and Pediatrics, University of Utah, Salt Lake City, Utah, USA. 10Pathology Department and Biobanc de l'Hospital Infantil Sant Joan de Déu per a la Investigació, Hospital Sant Joan de Déu, Barcelona, Spain. 11Neuromuscular Unit, Neuropediatrics Department, Hospital Sant Joan de Déu, Institut de Recerca Sant Joan de Déu, Esplugues de Llobregat, Barcelona, Spain. 12CIBERER (ISCIII), Madrid, Spain. 13Peptide/Protein Sequencing Facility, National Institute of Neurological Disorder and Stroke, NIH, Bethesda, Maryland, USA. 14Sorbonne Université, Inserm, Association Institut de Myologie, Centre de Recherche en Myologie, UMRS974, Paris, France. 15Medical Genetics Unit, Department of Medical Science, University of Ferrara, Ferrara, Italy. 16Bio21 Advanced Microscopy Facility, The University of Melbourne, Melbourne, Australia. 17Centre for Molecular Medicine and Therapeutics, Murdoch University, Perth, Australia. 18Perron Institute for Neurological and Translational Science, University of Western Australia, Perth, Australia. 19Murdoch Children's Research Institute, Parkville, Australia. 20Department of Paediatrics, University of Melbourne, Parkville, Australia. 21NIHR Great Ormond Street Hospital Biomedical Research Centre, London, United Kingdom. KEYWORDS: Collagens; Extracellular matrix; Muscle Biology; Neuromuscular disease; Therapeutics PMID: 30895940 DOI: 10.1172/jci.insight.124403 Free full text
Dystrophies musculaires d’Emery-Dreifuss – Emery-Dreifuss muscular dystrophies 17. Cells. 2019 Mar 13;8(3). pii: E240. doi: 10.3390/cells8030240. Emerin Is Required for Proper Nucleus Reassembly after Mitosis: Implications for New Pathogenetic Mechanisms for Laminopathies Detected in EDMD1 Patients. Dubińska-Magiera M1,2, Kozioł K3, Machowska M4, Piekarowicz K5, Filipczak D6, Rzepecki R7.
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1Laboratory of Nuclear Proteins, Faculty of Biotechnology, University of Wroclaw, Fryderyka Joliot-Curie 14a, 50-383 Wroclaw, Poland. [email protected]. 2Department of Animal Developmental Biology, Institute of Experimental Biology, University of Wroclaw, Sienkiewicza 21, 50-335 Wroclaw, Poland. [email protected]. 3Laboratory of Nuclear Proteins, Faculty of Biotechnology, University of Wroclaw, Fryderyka Joliot-Curie 14a, 50-383 Wroclaw, Poland. [email protected]. 4Laboratory of Nuclear Proteins, Faculty of Biotechnology, University of Wroclaw, Fryderyka Joliot-Curie 14a, 50-383 Wroclaw, Poland. [email protected]. 5Laboratory of Nuclear Proteins, Faculty of Biotechnology, University of Wroclaw, Fryderyka Joliot-Curie 14a, 50-383 Wroclaw, Poland. [email protected]. 6Laboratory of Nuclear Proteins, Faculty of Biotechnology, University of Wroclaw, Fryderyka Joliot-Curie 14a, 50-383 Wroclaw, Poland. [email protected]. 7Laboratory of Nuclear Proteins, Faculty of Biotechnology, University of Wroclaw, Fryderyka Joliot-Curie 14a, 50-383 Wroclaw, Poland. [email protected]. KEYWORDS: EDMD1; LAP2β; emerin; lamin; lamin A/C; laminopathy; mitotic spindle; tubulin PMID: 30871242 DOI:10.3390/cells8030240 Free full text
Dystrophinopathies, dystrophie musculaire de Duchenne, dystrophie musculaire de Becker – Dystrophinopathies 18. Neuromuscul Disord. 2019 Jan 25. pii: S0960-8966(18)31268-9. [Epub ahead of print] First familial Becker muscular dystrophy in Tanzania: Clinical and genetic features. Dekker MCJ1, Tieleman AA2, Igogo OJ3, van Duyvenvoorde HA4, Howlett WP3, Hamel BC5. 1Departments of Medicine and Urology, Kilimanjaro Christian Medical Centre, P.O. Box 3010, Moshi, Kilimanjaro, Tanzania. Electronic address: [email protected]. 2Department of Neurology, Radboud University Medical Centre, Nijmegen, The Netherlands. 3Departments of Medicine and Urology, Kilimanjaro Christian Medical Centre, P.O. Box 3010, Moshi, Kilimanjaro, Tanzania. 4Department of Human Genetics, Leiden University Medical Centre, Leiden, The Netherlands. KEYWORDS: Africa; Becker muscular dystrophy; Global neurology; Muscular dystrophy PMID: 30926200 DOI:10.1016/j.nmd.2019.01.006
19. Nurs Open. 2018 Nov 10;6(2):283-292. doi: 10.1002/nop2.213. eCollection 2019 Apr. A qualitative study of experiences of health and social care in home mechanical ventilation. MacLaren J1,2, Smith P1, Rodgers S1, Bateman AP1, Ramsay P1. 1University of Edinburgh Old Medical School Teviot Place Edinburgh UK. 2Present address: School of Health and Social Care Edinburgh Napier University Edinburgh UK. KEYWORDS: Duchenne muscular dystrophy; care experiences; family carers; health and social care integration; home mechanical ventilation; motor neurone disease; qualitative research; semi‐structured interviews PMID: 30918680 PMCID: PMC6419121 DOI: 10.1002/nop2.213 Free PMC Article
20. J Neuroeng Rehabil. 2019 Mar 27;16(1):44. doi: 10.1186/s12984-019-0515-y. Don't forget the trunk in Duchenne muscular dystrophy patients: more muscle weakness and compensation than expected. Peeters LHC1, Kingma I2, van Dieën JH2, de Groot IJM3. 1Department of Rehabilitation, Radboud University Medical Center, Donders Centre for Neuroscience, P.O. Box 9101, Nijmegen, HB, 6500, The Netherlands. [email protected]. 2Department of Human Movement Sciences, Faculty of Behavioral and Movement Sciences, Vrije Universiteit Amsterdam, Amsterdam Movement Sciences, Amsterdam, The Netherlands. 3Department of Rehabilitation, Radboud University Medical Center, Donders Centre for Neuroscience, P.O. Box 9101, Nijmegen, HB, 6500, The Netherlands. KEYWORDS: Activities of daily living; Electromyography; Kinematics; Muscular dystrophy; Trunk PMID: 30917845 DOI: 10.1186/s12984-019-0515-y Free full text
21. Sci Rep. 2019 Mar 26;9(1):5210. doi: 10.1038/s41598-019-41569-4. Distinct mechanical properties in homologous spectrin-like repeats of utrophin. Rajaganapathy S1, McCourt JL2, Ghosal S1, Lindsay A3, McCourt PM2, Lowe DA3, Ervasti JM4, Salapaka MV1. 1Department of Electrical and Computer Engineering, University of Minnesota - Twin Cities, Minneapolis, MN, 55455, USA.
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2Department of Biochemistry, Molecular Biology, and Biophysics, University of Minnesota - Twin Cities, Minneapolis, MN, 55455, USA. 3Department of Rehabilitation Medicine, University of Minnesota - Twin Cities, Minneapolis, MN, 55455, USA. 4Department of Biochemistry, Molecular Biology, and Biophysics, University of Minnesota - Twin Cities, Minneapolis, MN, 55455, USA. [email protected]. PMID: 30914715 PMCID: PMC6435810 DOI: 10.1038/s41598-019-41569-4 Free PMC Article
22. Physiol Rep. 2019 Mar;7(6):e14018. doi: 10.14814/phy2.14018. Simvastatin provides long-term improvement of left ventricular function and prevents cardiac fibrosis in muscular dystrophy. Kim MJ1, Bible KL1, Regnier M2, Adams ME1, Froehner SC1, Whitehead NP1. 1Department of Physiology & Biophysics, University of Washington, Seattle, Washington. 2Department of Bioengineering, University of Washington, Seattle, Washington. KEYWORDS: Cardiac function; fibrosis; muscular dystrophy; simvastatin PMID: 30912308 DOI: 10.14814/phy2.14018 Free full text
23. Cell Prolif. 2019 Mar 26:e12599. doi: 10.1111/cpr.12599. [Epub ahead of print] Do porcine Sertoli cells represent an opportunity for Duchenne muscular dystrophy? Chiappalupi S1,2, Salvadori L1,2, Luca G1, Riuzzi F1,2, Calafiore R3, Donato R1,2,4, Sorci G1,2,4. 1Department of Experimental Medicine, University of Perugia, Perugia, Italy. 2Interuniversity Institute of Myology (IIM), Perugia, Italy. 3Department of Medicine, University of Perugia, Perugia, Italy. 4Centro Universitario di Ricerca sulla Genomica Funzionale, University of Perugia, Perugia, Italy. KEYWORDS: Duchenne muscular dystrophy; Sertoli cell; encapsulation; muscle inflammation; therapeutic approaches PMID: 30912260 DOI:10.1111/cpr.12599
24. Glob Pediatr Health. 2019 Mar 15;6:2333794X19835661. doi: 10.1177/2333794X19835661. eCollection 2019. Increased Rates of Vitamin D Insufficiency in Boys With Duchenne Muscular Dystrophy Despite Higher Vitamin D3 Supplementation. Bian Q1, McAdam L2, Grynpas M3, Mitchell J1, Harrington J4. 1Department of Pharmacology and Toxicology, University of Toronto, Toronto, Ontario, Canada. 2Holland Bloorview Kids Rehabilitation Hospital, Toronto, Ontario, Canada. 3Lunenfeld-Tanenbaum Research Institute, University of Toronto, Toronto, Ontario, Canada. 4The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada. KEYWORDS: duchenne muscular dystrophy; fractures; osteoporosis; vitamin D PMID: 30906820 PMCID:PMC6421611 DOI:10.1177/2333794X19835661 Free PMC Article
25. Biochim Biophys Acta Mol Basis Dis. 2019 Mar 21. pii: S0925-4439(19)30082-1. [Epub ahead of print] Dystrobrevin is required postsynaptically for homeostatic potentiation at the Drosophila NMJ. Jantrapirom S1, Nimlamool W2, Temviriyanukul P3, Ahmadian S4, Locke CJ5, Davis GW5, Yamaguchi M6, Noordermeer JN4, Fradkin LG7, Potikanond S8. 1Department of Pharmacology, Faculty of Medicine, Chiang Mai University, Thailand; Department of Applied Biology, Kyoto Institute of Technology, Matsugasaki, Sakyo, Kyoto, Japan. 2Department of Pharmacology, Faculty of Medicine, Chiang Mai University, Thailand; Research Center of Pharmaceutical Nanotechnology, Chiang Mai University, Thailand. 3Institute of Nutrition, Mahidol University, Thailand. 4Laboratory of Developmental Neurobiology, Department of Molecular Cell Biology, Leiden University Medical Center, the Netherlands. 5Department of Biochemistry and Biophysics, University of California, San Francisco, CA, USA. 6Department of Applied Biology, Kyoto Institute of Technology, Matsugasaki, Sakyo, Kyoto, Japan. 7Laboratory of Developmental Neurobiology, Department of Molecular Cell Biology, Leiden University Medical Center, the Netherlands; University of Massachusetts Medical School, MA, USA. 8Department of Pharmacology, Faculty of Medicine, Chiang Mai University, Thailand; Research Center of Pharmaceutical Nanotechnology, Chiang Mai University, Thailand; Laboratory of Developmental Neurobiology, Department of Molecular Cell Biology, Leiden University Medical Center, the Netherlands. Electronic address: [email protected]. KEYWORDS: Drosophila; Dystrobrevin; Dystrophin; Neuromuscular junction; Synaptic homeostasis; cdc42 PMID: 30904609 DOI:10.1016/j.bbadis.2019.03.008
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26. Biochemistry. 2019 Apr 1. doi: 10.1021/acs.biochem.9b00062. [Epub ahead of print] Empirical and Computational Comparison of Alternative Therapeutic Exon Skip Repairs for Duchenne Muscular Dystrophy. Ma KM, Thomas ES, Wereszczynski J, Menhart N. PMID: 30896926 DOI:10.1021/acs.biochem.9b00062
27. J Muscle Res Cell Motil. 2019 Mar 19. doi: 10.1007/s10974-019-09507-z. [Epub ahead of print] Proteomic profiling of the mouse diaphragm and refined mass spectrometric analysis of the dystrophic phenotype. Murphy S1,2, Zweyer M3, Raucamp M3, Henry M4, Meleady P4, Swandulla D3, Ohlendieck K5. 1Department of Biology, Maynooth University, National University of Ireland, Maynooth, Co. Kildare, Ireland. 2Newcastle Fibrosis Research Group, Institute of Cellular Medicine, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK. 3Institute of Physiology II, University of Bonn, 53115, Bonn, Germany. 4National Institute for Cellular Biotechnology, Dublin City University, Dublin 9, Ireland. 5Department of Biology, Maynooth University, National University of Ireland, Maynooth, Co. Kildare, Ireland. [email protected]. KEYWORDS: Diaphragm; Duchenne muscular dystrophy; Dystrophin; Dystrophinopathy; Mdx-4cv mouse; Skeletal muscle proteome PMID: 30888583 DOI: 10.1007/s10974-019-09507-z
28. J Cachexia Sarcopenia Muscle. 2019 Mar 18. doi: 10.1002/jcsm.12414. [Epub ahead of print] Hemojuvelin is a novel suppressor for Duchenne muscular dystrophy and age-related muscle wasting. Zhang P1, He J1, Wang F2, Gong J1, Wang L1, Wu Q3, Li W1, Liu H1, Wang J2, Zhang K4, Li M5, Huang X5, Pu C5, Li Y6, Jiang F6, Wang F3, Min J3, Chen X1,2. 1State Key Laboratory of Space Medicine Fundamentals and Application, China Astronaut Research and Training Center, Beijing, China. 2National Key Laboratory of Human Factors Engineering, China Astronaut Research and Training Center, Beijing, China. 3The First Affiliated Hospital, Institute of Translational Medicine, School of Public Health, Zhejiang University School of Medicine, Hangzhou, China. 4Stem Cell Translational Research Center, Tongji Hospital, Tongji University School of Medicine, Shanghai, China. 5Department of Neurology, Chinese People's Liberation Army General Hospital, Beijing, China. 6No. 454 Hospital of People's Liberation Army, Nanjing, China. KEYWORDS: Age-related muscle wasting; Coreceptor; Duchenne muscular dystrophy; Hemojuvelin; TGF-β1 signalling PMID: 30884219 DOI: 10.1002/jcsm.12414 Free full text
29. J Pathol. 2019 Mar 18. doi: 10.1002/path.5263. [Epub ahead of print] Morpholino-induced exon skipping stimulates cell-mediated and humoral responses to dystrophin in mdx mice. Vila MC1,2, Novak JS1,2,3, Benny Klimek M1, Li N4, Morales M4, Fritz AG4, Edwards K4, Boehler JF1,2, Hogarth MW1, Kinder TB1,2, Zhang A1, Mazala D1, Fiorillo AA1,2,3, Douglas B1, Chen YW1,2,3, van den Anker J1,5, Lu QL6, Hathout Y1,4, Hoffman EP1,4, Partridge TA1,2,3, Nagaraju K1,4. 1Center for Genetic Medicine, Children's National Health System, Washington, DC. 2Institute for Biomedical Sciences, The George Washington University School of Medicine and Health Sciences, Washington, DC. 3Department of Genomics and Precision Medicine and Department of Pediatrics, The George Washington University School of Medicine and Health Sciences, Washington, DC. 4Department of Pharmaceutical Sciences, School of Pharmacy and Pharmaceutical Sciences, Binghamton University, Binghamton, NY. 5Center for Translational Science, Children's National Health System, Washington, DC. 6McColl-Lockwood Laboratory for Muscular Dystrophy Research, Neuromuscular/ALS Center, Department of Neurology, Carolinas Medical Center, Charlotte, NC. KEYWORDS: Duchenne muscular dystrophy; T-cell; anti-dystrophin antibodies; antisense oligonucleotides; cellular and humoral immune response; de novo dystrophin; mdx mice; morpholino PMID: 30883742 DOI: 10.1002/path.5263
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30. J Pediatr Rehabil Med. 2019 Mar 6. doi: 10.3233/PRM-170511. [Epub ahead of print] Risk factors for falls among boys under 18 years with muscular dystrophy. Hong Y1, Wang Y1, Zhang Y1, Royer JA2, Cai B1, Mann JR3, McDermott S1. 1Department of Epidemiology and Biostatistics, University of South Carolina Arnold School of Public Health, Columbia, SC, USA. 2Division of Research and Statistics, South Carolina Revenue and Fiscal Affairs, Columbia, SC, USA. 3Department of Preventive Medicine, University of Mississippi Medical Center, Jackson, MS, USA. KEYWORDS: Duchenne muscular dystrophy; boys; corticosteroid; risk factors for falls; wheelchair PMID: 30883368 DOI:10.3233/PRM-170511
31. Sports (Basel). 2019 Mar 15;7(3). pii: E64. doi: 10.3390/sports7030064. Precision Medicine and Exercise Therapy in Duchenne Muscular Dystrophy. Kostek M1,2. 1Laboratory of Muscle and Translational Therapeutics, Department of Physical Therapy, Duquesne University, Pittsburgh, PA 15228, USA. [email protected]. 2McGowan Institute of Regenerative Medicine, University of Pittsburgh School of Medicine, Pittsburgh, PA 15228, USA. [email protected]. KEYWORDS: SNP; biomarkers; dystrophy; exercise; gene therapy; muscle contraction; precision exercise; precision medicine; therapy PMID: 30875955 DOI:10.3390/sports7030064Free full text
32. PLoS One. 2019 Mar 15;14(3):e0213768. doi: 10.1371/journal.pone.0213768. eCollection 2019. The intracellular Ca2+ concentration is elevated in cardiomyocytes differentiated from hiPSCs derived from a Duchenne muscular dystrophy patient. Tsurumi F1, Baba S1, Yoshinaga D1, Umeda K1, Hirata T1, Takita J1, Heike T1. 1Department of Pediatrics, Graduate School of Medicine Kyoto University, Kyoto City, Japan. PMID: 30875388 PMCID: PMC6420015 DOI: 10.1371/journal.pone.0213768 Free PMC Article
Dystrophies musculaires des ceintures – Limb-girdle muscular dystrophies 33. Cells. 2019 Mar 16;8(3). pii: E254. doi: 10.3390/cells8030254. Analysis of the Zn-Binding Domains of TRIM32, the E3 Ubiquitin Ligase Mutated in Limb Girdle Muscular Dystrophy 2H. Lazzari E1, El-Halawany MS2,3, De March M4, Valentino F5,6, Cantatore F7, Migliore C8, Onesti S9, Meroni G10. 1Department of Life Sciences, University of Trieste, 34127 Trieste, Italy. [email protected]. 2Cluster in Biomedicine, Area Science Park, 34149 Trieste, Italy. [email protected]. 3Department of Zoology, Faculty of Science, Cairo University, Cairo 12613, Egypt. [email protected]. 4Structural Biology Laboratory, Elettra-Sincrotrone Trieste S.C.p.A., 34149 Trieste, Italy. [email protected]. 5Department of Life Sciences, University of Trieste, 34127 Trieste, Italy. [email protected]. 6Medical Genetics, University of Siena, 53100 Siena, Italy. [email protected]. 7Department of Life Sciences, University of Trieste, 34127 Trieste, Italy. [email protected]. 8Department of Life Sciences, University of Trieste, 34127 Trieste, Italy. [email protected]. 9Structural Biology Laboratory, Elettra-Sincrotrone Trieste S.C.p.A., 34149 Trieste, Italy. [email protected]. 10Department of Life Sciences, University of Trieste, 34127 Trieste, Italy. [email protected]. KEYWORDS: B-box domain; E3 ubiquitin ligases; Limb–Girdle Muscular Dystrophy type 2H; RING domain; TRIM family PMID: 30884854 DOI:10.3390/cells8030254 Free full text
Dysferlinopathies – Dysferlinopathies 34. Bull Exp Biol Med. 2019 Mar;166(5):593-597. doi: 10.1007/s10517-019-04398-z. Epub 2019 Mar 23. Abnormal Membrane Localization of α2 Isoform of Na,K-ATPase in m. soleus of Dysferlin-Deficient Mice. Kravtsova VV1, Bouzinova EV2, Machkov VV2, Timonina NA1, Zakyrjanova GF3,4, Zefirov AL4, Krivoi II5. 1Department of General Physiology, St. Petersburg State University, St. Petersburg, Russia. 2Department of Biomedicine, Health, Aarhus University, Aarhus, Denmark.
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3Kazan Institute of Biochemistry and Biophysics, Federal Research Center Kazan Scientific Center of the Russian Academy of Science, Kazan, Russia. 4Department of Normal Physiology, Kazan State Medical University, Kazan, Tatarstan Republic, Russia. 5Department of General Physiology, St. Petersburg State University, St. Petersburg, Russia. [email protected]. KEYWORDS: Na,K-ATPase isoforms; acetylcholine receptors; dysferlin; dysferlinopathy; nicotinic; skeletal muscle PMID: 30903507 DOI:10.1007/s10517-019-04398-z
Dystrophie musculaire facioscapulohumérale – Facioscapulohumeral muscular dystrophy (FSHD) 35. Neurogenetics. 2019 Mar 25. doi: 10.1007/s10048-019-00575-4. [Epub ahead of print] Facioscapulohumeral muscular dystrophy (FSHD) molecular diagnosis: from traditional technology to the NGS era. Zampatti S1, Colantoni L1, Strafella C2, Galota RM1, Caputo V2, Campoli G1, Pagliaroli G1, Carboni S1, Mela J1, Peconi C1, Gambardella S3, Cascella R4,5, Giardina E1,2. 1Molecular Genetics Laboratory UILDM, Santa Lucia Foundation, via Ardeatina 354, 00142, Rome, Italy. 2Department of Biomedicine and Prevention, Tor Vergata University, via Montpellier 1, 00133, Rome, Italy. 3IRCCS Neuromed, via Atinense, 18, 86077, Pozzilli, Italy. 4Molecular Genetics Laboratory UILDM, Santa Lucia Foundation, via Ardeatina 354, 00142, Rome, Italy. [email protected]. 5Department of Biomedical Sciences, Catholic University Our Lady of Good Counsel, Rruga Dritan Hoxha, 1000, Tirana, Albania. [email protected]. KEYWORDS: D4Z4 contraction; FSHD; Genetic counseling; Genetic test; SMCHD1 PMID: 30911870 DOI: 10.1007/s10048-019-00575-4
36. Pediatr Neurol. 2018 Aug;16(4):222-231. doi: 10.1055/s-0037-1604197. A Pediatric Review of Facioscapulohumeral Muscular Dystrophy. Mah JK1, Chen YW2,3. 1Department of Pediatrics and Clinical Neurosciences, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada. 2Center for Genetic Medicine Research, Children's National Health System, Washington, District of Columbia, United States. 3Department of Integrative Systems Biology, George Washington University, Washington, District of Columbia, United States. KEYWORDS: facioscapulohumeral muscular dystrophy; new emerging treatments; review PMID: 30923442 PMCID: PMC6435288 DOI: 10.1055/s-0037-1604197 Free PMC Article
37. Neurology. 2019 Mar 26;92(13):636. doi: 10.1212/WNL.0000000000007170. Editors' note: A family-based study into penetrance in facioscapulohumeral muscular dystrophy type 1. Ganesh A, Galetta S. PMID: 30910945 DOI:10.1212/WNL.0000000000007170
Already see in Neuromuscular Bibliography 2018-07-2, available in Myobase.org: http://www.myobase.org/index.php?lvl=notice_display&id=65919 July 31, 2018; 91 (5) Neurology A family-based study into penetrance in facioscapulohumeral muscular dystrophy type 1 Mariëlle Wohlgemuth, Richard J. Lemmers, Marianne Jonker, Elly van der Kooi, Corinne G. Horlings, Baziel G. van Engelen, Silvere M. van der Maarel, George W. Padberg, Nicol C. Voermans Glossary CSS=clinical severity score; FSHD=facioscapulohumeral muscular dystrophy type 1; PFGE=pulsed field gel electrophoresis DOI: https://doi.org/10.1212/WNL.0000000000005915 PMID: 29997197 https://www.ncbi.nlm.nih.gov/pubmed/?term=29997197
38. Neurology. 2019 Mar 26;92(13):637. doi: 10.1212/WNL.0000000000007172. Reader response: A family-based study into penetrance in facioscapulohumeral muscular dystrophy type 1. Brignol TN1, Urtizberea JA2. 1(Evry, France).
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2(Marseille, France). PMID: 30910946 DOI:10.1212/WNL.0000000000007172
39. Neurology. 2019 Mar 26;92(13):637. doi: 10.1212/WNL.0000000000007171. Author response: A family-based study into penetrance in facioscapulohumeral muscular dystrophy type 1. Voermans NC1, Goselink RJ1. 1(Nijmegen, Netherlands). PMID: 30910947 DOI:10.1212/WNL.0000000000007171
40. Muscle Nerve. 2019 Mar 21. doi: 10.1002/mus.26474. [Epub ahead of print] Phenotype may predict the clinical course of facioscapolohumeral muscular dystrophy. Ricci G1,2, Cammish P2, Siciliano G2, Tupler R3, Lochmuller H4, Evangelista T2. 1John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, United Kingdom. 2Department of Clinical and Experimental Medicine, University of Pisa, via Roma 67 56126, Pisa, Italy. 3Department of Life Sciences, University of Modena and Reggio Emilia, Modena, Italy. 4Department of Neuropediatrics and Muscle Disorders, Medical Center-University of Freiburg, Faculty of Medicine, Freiburg, Germany. KEYWORDS: CCEF; Comprehensive Clinical Evaluation Form; UK FSHD Patient Registry; clinical phenotypes; facial- sparing FSHD phenotype; facioscapulohumeral muscular dystrophy; trial readiness PMID: 30895627 DOI:10.1002/mus.26474
41. Intractable Rare Dis Res. 2019 Feb;8(1):9-13. doi: 10.5582/irdr.2019.01016. Management strategies in facioscapulohumeral muscular dystrophy. Lu J1, Yao Z1, Yang Y1, Zhang C1, Zhang J1, Zhang Y2. 1Department of Orthopedic Surgery, Zhongshan Hospital affiliated with Fudan University, Shanghai, China. 2Department of Nursing, Zhongshan Hospital affiliated with Fudan University, Shanghai, China. KEYWORDS: Facioscapulohumeral muscular dystrophy; Landouzy-Dejerine disease; clinical manifestations; management; surgical intervention PMID: 30881851 PMCID:PMC6409109 DOI:10.5582/irdr.2019.01016 Free PMC Article
Dystrophie musculaire oculopharyngée (DMOP) – Oculopharyngeal muscular dystrophy (OPMD) 42. Lab Invest. 2019 Mar 20. doi: 10.1038/s41374-019-0243-8. [Epub ahead of print] Mitochondrial localization of PABPN1 in oculopharyngeal muscular dystrophy. Doki T1, Yamashita S2, Wei FY3, Hara K1, Yamamoto T3, Zhang Z1, Zhang X1, Tawara N1, Hino H4, Uyama E5, Kurashige T6,7, Maruyama H7, Tomizawa K3,8, Ando Y1,8. 1Department of Neurology, Graduate School of Medical Sciences, Kumamoto University, Kumamoto, Japan. 2Department of Neurology, Graduate School of Medical Sciences, Kumamoto University, Kumamoto, Japan. y- [email protected]. 3Department of Molecular Physiology, Faculty of Life Sciences, Kumamoto University, Kumamoto, Japan. 4Department of Neurology, Konan Hospital, Kumamoto, Japan. 5Department of Neurology, Kumamoto Takumadai Rehabilitation Hospital, Kumamoto, Japan. 6Department of Neurology, National Hospital Organization Kure Medical Centre, Kure, Japan. 7Department of Clinical Neuroscience and Therapeutics, Hiroshima University Graduate School of Biomedical and Health Sciences, Hiroshima, Japan. 8Center for Metabolic Regulation of Healthy Aging, Faculty of Life Sciences, Kumamoto University, Kumamoto, Japan. PMID: 30894671 DOI:10.1038/s41374-019-0243-8
Dystrophies myotoniques – Myotonic dystrophies 43. Proc Natl Acad Sci U S A. 2019 Mar 29. pii: 201901484. doi: 10.1073/pnas.1901484116. [Epub ahead of print] Precise small-molecule cleavage of an r(CUG) repeat expansion in a myotonic dystrophy mouse model. Angelbello AJ1, Rzuczek SG1, Mckee KK2,3, Chen JL1, Olafson H2,3, Cameron MD4, Moss WN5, Wang ET2,3, Disney MD6. 1Department of Chemistry, The Scripps Research Institute, Jupiter, FL 33458. 2Department of Molecular Genetics & Microbiology, College of Medicine, University of Florida, Gainesville, FL 32610.
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3Center for NeuroGenetics, College of Medicine, University of Florida, Gainesville, FL 32610. 4Department of Molecular Medicine, The Scripps Research Institute, Jupiter, FL 33458. 5The Roy J. Carver Department of Biochemistry, Biophysics and Molecular Biology, Iowa State University, Ames, IA 50011-1079. 6Department of Chemistry, The Scripps Research Institute, Jupiter, FL 33458; [email protected]. KEYWORDS: RNA; RNA splicing; chemical biology; genetic disease; nucleic acids PMID: 30926669 DOI:10.1073/pnas.1901484116 Free full text
44. J Perioper Pract. 2019 Mar 19:1750458919838412. doi: 10.1177/1750458919838412. [Epub ahead of print] Sugammadex is changing the paradigm in neuromuscular blockade in patients with myotonic dystrophy. Teixeira J1, Matias B1, Ferreira I1, Taleço T1, Duarte JS1. 1Centro Hospitalar de Setúbal, Setúbal, Portugal. KEYWORDS: Myotonic dystrophy type 1; Neuromuscular blockade reversal; Neuromuscular diseases; Rocuronium; Sugammadex PMID: 30888938 DOI:10.1177/1750458919838412
45. BMC Neurol. 2019 Mar 28;19(1):45. doi: 10.1186/s12883-019-1280-z. Perceived fatigue in myotonic dystrophy type 1: a case-control study. Winblad S1, Lindberg C2,3. 1Department of Psychology, University of Gothenburg, Box 500, 405 30, Gothenburg, Sweden. [email protected]. 2Neuromuscular Centre, Department of Neurology, Sahlgrenska University Hospital, Gothenburg, Sweden. 3Department of Clinical Genetics, Sahlgrenska University Hospital, Gothenburg, Sweden. KEYWORDS: Cognition; Depression; Fatigue; Myotonic dystrophy; Neuromuscular PMID: 30922263 DOI:10.1186/s12883-019-1280-zFree full text
46. Eur J Paediatr Dent. 2019 Mar;20(1):53-58. doi: 10.23804/ejpd.2019.20.01.11. Vertical relapse after orthodontic and orthognathic surgical treatment in a patient with myotonic dystrophy. Antonarakis GS1, Herzog G1, Kiliaridis S1. 1Division of Orthodontics, University Clinics of Dental Medicine, University of Geneva, Switzerland. PMID: 30919646 DOI:10.23804/ejpd.2019.20.01.11 Free full text
47. Case Rep Obstet Gynecol. 2019 Feb 14;2019:4290145. doi: 10.1155/2019/4290145. eCollection 2019. Antenatal Indomethacin Treatment for Congenital Myotonic Dystrophy. Yamaguchi K1, Tanaka H1, Furuhashi FH1, Tanaka K1, Kondo E1, Ikeda T1. 1Department of Obstetrics and Gynecology, Mie University, Mie, Japan. PMID: 30906607 PMCID:PMC6393864 DOI:10.1155/2019/4290145 Free PMC Article
48. PLoS One. 2019 Mar 22;14(3):e0214254. doi: 10.1371/journal.pone.0214254. eCollection 2019. Aberrant insulin receptor expression is associated with insulin resistance and skeletal muscle atrophy in myotonic dystrophies. Renna LV1, Bosè F1, Brigonzi E2, Fossati B3, Meola G2,3, Cardani R1. 1Laboratory of Muscle Histopathology and Molecular Biology, IRCCS-Policlinico San Donato, San Donato Milanese, Milan, Italy. 2Department of Biomedical Sciences for Health, University of Milan, Milan, Italy. 3Department of Neurology, IRCCS-Policlinico San Donato, San Donato Milanese, Milan, Italy. PMID: 30901379 PMCID:PMC6430513 DOI:10.1371/journal.pone.0214254 Free PMC Article
49. Neuromuscul Disord. 2019 Feb 19. pii: S0960-8966(18)31259-8. [Epub ahead of print] Sleep-disordered breathing and effects of non-invasive ventilation on objective sleep and nocturnal respiration in patients with myotonic dystrophy type I.
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Spiesshoefer J1, Runte M1, Heidbreder A1, Dreher M2, Young P1, Brix T3, Boentert M4. 1Institute for Sleep Medicine and Neuromuscular Disorders, University Hospital Muenster, Muenster, Germany. 2Department of Pneumology and Intensive Care Medicine, University Hospital RWTH Aachen, Aachen, Germany. 3Institute of Medical Informatics, University of Muenster, Muenster, Germany. 4Institute for Sleep Medicine and Neuromuscular Disorders, University Hospital Muenster, Muenster, Germany. Electronic address: [email protected]. KEYWORDS: Capnometry; Hypoventilation; Myotonic dystrophy type 1; Non-invasive ventilation; Sleep-disordered breathing PMID: 30898523 DOI:10.1016/j.nmd.2019.02.006
50. Muscle Nerve. 2019 Mar 21. doi: 10.1002/mus.26471. [Epub ahead of print] A model to predict ventilator requirement in myotonic dystrophy type 1. Vivekananda U1, Turner C1. 1MRC Centre for Neuromuscular Diseases, National Hospital for Neurology and Neurosurgery, Queen Square, London WC1N 3BG, United Kingdom. KEYWORDS: daytime somnolescence; muscle impairment rating scale; myotonic dystrophy; nocturnal positive airway pressure; obstructive sleep apnea; repeat expansion PMID: 30895625 DOI:10.1002/mus.26471
51. Neurol Sci. 2019 Mar 19. doi: 10.1007/s10072-019-03783-w. [Epub ahead of print] Abnormal nuclear aggregation and myotube degeneration in myotonic dystrophy type 1. Wang Y1, Hao L2, Li H3, Cleary JD4, Tomac MP5, Thapa A5, Guo X6, Zeng D3, Wang H5, McRae M5, Jastrzemski O5, Smith- Fassler AM5, Xu Y7, Xia G8. 1Department of Neurology, The First Affiliated Hospital of Zhengzhou University, Henan, 450000, China. 2Department of Neurology, The Fifth People's Hospital of Chongqing, Chongqing, 400062, China. 3Department of Neurology, University of Florida, Gainesville, FL, USA. 4Department of Molecular Genetics and Microbiology, University of Florida, Gainesville, FL, USA. 5Department of Neurology and Neuroscience, School of Medicine, University of New Mexico, Albuquerque, NM, 87131, USA. 6Department of Neurology, The First Affiliated Hospital of Chongqing Medical University, Chongqing, 400016, China. 7Department of Neurology, The First Affiliated Hospital of Zhengzhou University, Henan, 450000, China. [email protected]. 8Department of Neurology and Neuroscience, School of Medicine, University of New Mexico, Albuquerque, NM, 87131, USA. [email protected]. KEYWORDS: Aggregation; Degeneration; Foci; Myotonic dystrophy; Myotube; Nuclear PMID: 30891637 DOI:10.1007/s10072-019-03783-w
52. J Mol Biol. 2019 Mar 14. pii: S0022-2836(19)30121-4. doi: 10.1016/j.jmb.2019.03.003. [Epub ahead of print] Expanded CUG Repeats Trigger Disease Phenotype and Expression Changes through the RNAi Machinery in C. elegans. Qawasmi L1, Braun M1, Guberman I1, Cohen E1, Naddaf L1, Mellul A1, Matilainen O2, Roitenberg N3, Share D1, Stupp D1, Chahine H1, Cohen E3, Garcia SMDA4, Tabach Y5. 1Department of Developmental Biology and Cancer Research, Institute for Medical Research Israel-Canada (IMRIC), Faculty of Medicine, The Hebrew University of Jerusalem, Ein Kerem, Jerusalem, Israel. 2Institute of Biotechnology and HiLIFE, University of Helsinki, Helsinki, Finland. 3Department Department of Biochemistry and Molecular Biology, Institute for Medical Research Israel-Canada (IMRIC), Faculty of Medicine, The Hebrew University of Jerusalem, Ein Kerem, Jerusalem, Israel. 4Institute of Biotechnology and HiLIFE, University of Helsinki, Helsinki, Finland. Electronic address: [email protected]. 5Department of Developmental Biology and Cancer Research, Institute for Medical Research Israel-Canada (IMRIC), Faculty of Medicine, The Hebrew University of Jerusalem, Ein Kerem, Jerusalem, Israel. Electronic address: [email protected]. KEYWORDS: C. elegans; RNA interference; RNA toxicity; myotonic dystrophy; trinucleotide repeat disorders PMID: 30878478 DOI:10.1016/j.jmb.2019.03.003
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Fibrodysplasie ossifiante progressive (FOP) – Fibrodysplasia ossificans progressiva 53. Case Rep Radiol. 2019 Feb 11;2019:5095343. doi: 10.1155/2019/5095343. eCollection 2019. A Case of Progressive Ossifying Fibrodysplasia of Tracheobronchial Respiratory Muscles. Habib N1, Konan A2, Bi Zamble Olivier Didier T3. 1Radiology Department of Mahavoky Atsimo University Hospital, Mahajanga, Madagascar. 2Radiology Department of Yopougon University Hospital, 21 BP 632 Abidjan, Côte d'Ivoire. 3Radiology Department of Bingerville University Hospital, Abidjan, Côte d'Ivoire. PMID: 30886756 PMCID:PMC6388317 DOI:10.1155/2019/5095343 Free PMC Article
54. ACS Chem Biol. 2019 Apr 3. doi: 10.1021/acschembio.8b01020. [Epub ahead of print] Chemoproteomic Selectivity Profiling of PIKK and PI3K Kinase Inhibitors. Reinecke M1,2, Ruprecht B3, Poser S, Wiechmann S1,2, Wilhelm M, Heinzlmeir S, Kuster B1,2,3, Médard G. 1German Cancer Consortium (DKTK), Munich , Germany. 2German Cancer Research Center (DKFZ), Heidelberg , Germany. 3Center for Integrated Protein Science Munich (CIPSM), Freising , Germany. PMID: 30901187 DOI:10.1021/acschembio.8b01020
55. Intractable Rare Dis Res. 2019 Feb;8(1):24-28. doi: 10.5582/irdr.2018.01095. Propranolol and ascorbic acid in control of fibrodysplasia ossificans progressiva flare-ups due to accidental falls. Palhares DB1, Nascimento DR1,2, Palhares MG1, Lopes S1, de L1, Cristhina P1, Mauro J3, Alves F4,5, Vieira RO4,5, Souza- Fagundes EM4, Underwood A6, Milsted A6, Augusto R4, Martins AS4. 1UFMS/ Faculty of Medicine, Campo Grande, MS, Brazil. 2Medical Faculty of Barbacena, José Bonifácio Lafayette de Andrada Foundation, MG, Brazil. 3Procter & Gamble Health Care & Global Clinical Sciences, Mason, OH, USA. 4UFMG/ Department of Physiology and Biophysics, Belo Horizonte, MG, Brazil. 5Centro Universitário Metodista Izabela Hendrix- IMIH, Belo Horizonte, MG, Brazil. 6The Walsh University, Division of Mathematics and Sciences, North Canton, OH, USA. KEYWORDS: FOPCON; Vitamin C; beta blocker; ectopic ossification PMID: 30881854 PMCID:PMC6409115 DOI:10.5582/irdr.2018.01095 Free PMC Article
Maladie de Charcot-Marie-Tooth – Charcot-Marie-Tooth disease 56. Acta Biomed. 2019 Jan 24;90(1):104-107. doi: 10.23750/abm.v90i1.6951. Charcot-Marie-Tooth disease with pyramidal features due to a new mutation of EGR2 gene. Fusco C1, Spagnoli C, Salerno GG, Pavlidis E, Frattini D, Pisani F, Bassi MT. 1Department of Pediatrics, Child Neurology Unit, Santa Maria Nuova Hospital, IRCCS, viale Risorgimento 80, 42123 Reggio Emilia, Italy. Department of Pediatrics, Pediatric Neurophysiology Laboratory, Santa Maria Nuova Hospital, IRCCS, viale Risorgimento 80, 42123 Reggio Emilia, Italy.. [email protected]. PMID: 30889162 DOI:10.23750/abm.v90i1.6951
57. J Clin Invest. 2019 Mar 18;130:1756-1771. doi: 10.1172/JCI124194. eCollection 2019 Mar 18. Restoring mitofusin balance prevents axonal degeneration in a Charcot-Marie-Tooth type 2A model. Zhou Y1,2, Carmona S2, Muhammad AKMG1,2, Bell S1,2, Landeros J1,2, Vazquez M1,2, Ho R2, Franco A3, Lu B2, Dorn GW 2nd3, Wang S2, Lutz CM4, Baloh RH1,2,5. 1Center for Neural Science and Medicine, and. 2Board of Governors Regenerative Medicine Institute, Cedars-Sinai Medical Center, Los Angeles, California, USA. 3Center for Pharmacogenomics, Department of Internal Medicine, Washington University School of Medicine, St. Louis, Missouri, USA. 4The Jackson Laboratory, Bar Harbor, Maine, USA. 5Department of Neurology, Cedars-Sinai Medical Center, Los Angeles, California, USA. KEYWORDS: Mouse models; Neurodegeneration; Neuromuscular disease; Neuroscience PMID: 30882371 DOI:10.1172/JCI124194 Free full text
58. Neuromuscul Disord. 2019 Feb 2. pii: S0960-8966(18)30022-1. [Epub ahead of print] Are novel outcome measures for Charcot-Marie-Tooth disease sensitive to change? The 6-minute walk test and StepWatch™ Activity Monitor in a 12-month longitudinal study.
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Pazzaglia C1, Padua L2, Pareyson D3, Schenone A4, Aiello A4, Fabrizi GM5, Cavallaro T6, Santoro L7, Manganelli F7, Coraci D1, Gemignani F8, Vitetta F8, Quattrone A9, Mazzeo A10, Russo M11, Vita G12; CMT-TRIAAL Group. 1Fondazione Policlinico Universitario A. Gemelli IRCCS, Roma, Italy. 2IRCCS Fondazione Don Carlo Gnocchi, Piazzale Morandi 6, 20121 Milano, Italy; Department of Geriatrics, Neuroscience and Orthopedics, Università Cattolica del Sacro Cuore, Roma, Italia. Electronic address: [email protected]. 3Department of Clinical Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy. 4Department of Neuroscience, Ospedale San Martino Genova, Genova, Italy. 5Department of Neurological, Biomedical and Motor Sciences, University of Verona, Verona, Italy. 6UOC Neurologia B, AOUI Verona, Verona, Italy. 7Department of Neurological Sciences, Reproductive Sciences and Odontostomatological, ``Federico II'' University, Naples, Italy. 8Department of Neurosciences, University of Parma, Parma, Italy. 9Department of Medical Sciences, ``Magna Graecia'' University, Catanzaro, Italy. 10Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy. 11Nemo Sud Clinical Center for Neuromuscular Diseases, Messina, Italy. 12Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy; Nemo Sud Clinical Center for Neuromuscular Diseases, Messina, Italy. KEYWORDS: Charcot–Marie–Tooth; Outcome measures; Rehabilitation; Sensitivity to changes PMID: 30926199 DOI:10.1016/j.nmd.2019.01.009
59. Muscle Nerve. 2019 Mar 28. doi: 10.1002/mus.26478. [Epub ahead of print] A charcot-marie-tooth type 1B kindred associated with hemifacial spasm and trigeminal neuralgia. Caress JB1, Lewis JA2, Pinyan CW3, Lawson VH4. 1Department of Neurology, Wake Forest School of Medicine, Medical Center Boulevard, Winston-Salem, North Carolina 27157, USA. 2The Neil Group, Winston-Salem, North Carolina, USA. 3Wake Forest School of Medicine, Winston-Salem, North Carolina, USA. 4Dartmouth Hitchcock Medical Center, Geisel School of Medicine at Dartmouth, Lebanon, New Hampshire, USA. KEYWORDS: Charcot-Marie-Tooth disease; cranial neuropathy; familial; hemifacial spasm; hereditary neuropathy; phenotype; trigeminal neuralgia PMID: 30920665 DOI:10.1002/mus.26478
60. Neurology. 2019 Mar 27. pii: 10.1212/WNL.0000000000007376. [Epub ahead of print] Cost of illness in Charcot-Marie-Tooth neuropathy: Results from Germany. Schorling E1, Thiele S1, Gumbert L1, Krause S1, Klug C1, Schreiber-Katz O1, Reilich P1, Nagels K1, Walter MC2. 1From the Institute for Healthcare Management and Health Sciences (E.S., C.K.) and Healthcare Management and Health Services Research (L.G., K.N.), University of Bayreuth; Department of Neurology (S.T., S.K., P.R., M.C.W.), Friedrich- Baur-Institute, Ludwig-Maximilians-University of Munich; and Department of Neurology (O.S.-K.), Hannover Medical School, Germany. 2From the Institute for Healthcare Management and Health Sciences (E.S., C.K.) and Healthcare Management and Health Services Research (L.G., K.N.), University of Bayreuth; Department of Neurology (S.T., S.K., P.R., M.C.W.), Friedrich- Baur-Institute, Ludwig-Maximilians-University of Munich; and Department of Neurology (O.S.-K.), Hannover Medical School, Germany. [email protected]. PMID: 30918088 DOI:10.1212/WNL.0000000000007376
61. Cell Death Dis. 2019 Mar 25;10(4):288. doi: 10.1038/s41419-019-1496-2. Enhancing folic acid metabolism suppresses defects associated with loss of Drosophila mitofusin. Garrido-Maraver J1, Celardo I1, Costa AC1, Lehmann S1, Loh SHY2, Martins LM3. 1MRC Toxicology Unit, University of Cambridge, Lancaster Road, Leicester, LE1 9HN, UK. 2MRC Toxicology Unit, University of Cambridge, Lancaster Road, Leicester, LE1 9HN, UK. [email protected]. 3MRC Toxicology Unit, University of Cambridge, Lancaster Road, Leicester, LE1 9HN, UK. [email protected]. PMID: 30911005 PMCID: PMC6433915 DOI:10.1038/s41419-019-1496-2 Free PMC Article
62. Brain. 2019 Mar 25. pii: awz064. doi: 10.1093/brain/awz064. [Epub ahead of print] Gene replacement therapy in a model of Charcot-Marie-Tooth 4C neuropathy. Schiza N1, Georgiou E1, Kagiava A1, Médard JJ2, Richter J3, Tryfonos C3, Sargiannidou I1, Heslegrave AJ4,5, Rossor AM6, Zetterberg H4,5,7,8, Reilly MM6, Christodoulou C3, Chrast R2, Kleopa KA1.
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1Neuroscience Laboratory and Neurology Clinics, The Cyprus Institute of Neurology and Genetics and Cyprus School of Molecular Medicine, Nicosia, Cyprus. 2Department of Neuroscience and Department of Clinical Neuroscience, Karolinska Institutet, Stockholm, Sweden. 3Department of Molecular Virology, The Cyprus Institute of Neurology and Genetics and Cyprus School of Molecular Medicine, Nicosia, Cyprus. 4Department of Neurodegenerative Disease, UCL Institute of Neurology, London, UK. 5UK Dementia Research Institute at UCL, London, UK. 6Department of Neuromuscular Diseases, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, UK. 7Department of Psychiatry and Neurochemistry, Institute of Neuroscience and Physiology, the Sahlgrenska Academy at the University of Gothenburg, Mölndal, Sweden. 8Clinical Neurochemistry Laboratory, Sahlgrenska University Hospital, Mölndal, Sweden. KEYWORDS: Charcot-Marie-Tooth 4C disease; Schwann cells; biomarkers; gene therapy; peripheral neuropathy PMID: 30907403 DOI: 10.1093/brain/awz064
63. J Clin Invest. 2019 Mar 18;130:1533-1535. doi: 10.1172/JCI127820. eCollection 2019 Mar 18. Finding a new balance to cure Charcot-Marie-Tooth 2A. Iwata K1,2, Scorrano L1,3. 1Venetian Institute of Molecular Medicine, Padova, Italy. 2Research Center for Child Mental Development, University of Fukui, Fukui, Japan. 3Department of Biology, University of Padova, Padova, Italy. PMID: 30882369 PMCID:PMC6436877 [Available on 2020-04-01]DOI:10.1172/JCI127820 Free full text
64. Front Cell Neurosci. 2019 Mar 1;13:69. doi: 10.3389/fncel.2019.00069. eCollection 2019. Role of Connexin-Based Gap Junction Channels in Communication of Myelin Sheath in Schwann Cells. Cisterna BA1,2, Arroyo P3, Puebla C4. 1Escuela de Medicina, Universidad de Talca, Talca, Chile. 2Centro para el Desarrollo de la Nanociencia y Nanotecnología (CEDENNA), Universidad de Santiago de Chile, Santiago, Chile. 3Facultad de Medicina, Pontificia Universidad Católica de Chile, Santiago, Chile. 4Instituto de Ciencias Biomédicas, Facultad de Ciencias de la Salud, Universidad Autónoma de Chile, Santiago, Chile. KEYWORDS: CMTX1; Charcot-Marie-Tooth disease; Schmidt-Lanterman incisure; connexins; gap junction channels; myelin sheath PMID: 30881289 PMCID: PMC6405416 DOI: 10.3389/fncel.2019.00069 Free PMC Article
65. J Cachexia Sarcopenia Muscle. 2019 Mar 15. doi: 10.1002/jcsm.12415. [Epub ahead of print] Muscle fat quantification using magnetic resonance imaging: case-control study of Charcot-Marie- Tooth disease patients and volunteers. Kim HS1, Yoon YC1, Choi BO2, Jin W3, Cha JG4. 1Department of Radiology, Samsung Medical Center, School of Medicine, Sungkyunkwan University, Seoul, South Korea. 2Department of Neurology, Samsung Medical Center, School of Medicine, Sungkyunkwan University, Seoul, South Korea. 3Department of Radiology, Kyung Hee University Hospital at Gangdong, Seoul, South Korea. 4Department of Radiology, Soonchunhyang University Bucheon Hospital, Bucheon, South Korea. KEYWORDS: Charcot-Marie-Tooth disease; Magnetic resonance imaging; Multiple gradient echo Dixon; Muscle fat quantification PMID: 30873759 DOI:10.1002/jcsm.12415 Free full text
66. J Peripher Nerv Syst. 2019 Mar;24(1):161. doi: 10.1111/jns.12300. Novel GARS mutation presenting as autosomal dominant intermediate Charcot-Marie-Tooth disease: Intermediate or axonal? Berciano J1, García A2. 1Service of Neurology, University Hospital "Marqués de Valdecilla (IDIVAL)", University of Cantabria, "Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas (CIBERNED)", Santander, Spain. 2Service of Clinical Neurophysiology, University Hospital "Marqués de Valdecilla (IDIVAL)", "Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas (CIBERNED)", Santander, Spain. Nan et al. J Peripher Nerv Syst. 2018. Novel GARS mutation presenting as autosomal dominant intermediate Charcot‐ Marie‐Tooth disease. https://doi.org/10.1111/jns.12289 / https://rdcu.be/bvK80
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PMID: 30873681 DOI:10.1111/jns.12300
Myasthénie autoimmune – Myasthenia gravis 67. Muscle Nerve. 2019 Mar 18. doi: 10.1002/mus.26469. [Epub ahead of print] The placebo response in myasthenia gravis assessed by quantitative myasthenia gravis score: A meta-analysis. Frisaldi E1, Shaibani A2, Vollert J3,4, Ferrero B1, Carrino R1, Ibraheem HD2, Vase L5, Benedetti F1,6. 1Department of Neuroscience, University of Turin Medical School, Corso Raffaello 30, 10125 Turin, Italy. 2Nerve & Muscle Center, Houston, Texas, USA. 3Pain Research, Faculty of Medicine, Department of Surgery & Cancer, Imperial College London, London, United Kingdom. 4Center of Biomedicine and Medical Technology Mannheim CBTM, Medical Faculty Mannheim, Heidelberg University, Germany. 5Department of Psychology and Behavioural Sciences, School of Business and Social Sciences, Aarhus University, Aarhus, Denmark. 6Plateau Rosà Laboratories, Plateau Rosà, Italy/Switzerland. KEYWORDS: clinical trials; meta-analysis; myasthenia gravis; neuromuscular disorders; placebo effect; placebo response PMID: 30883809 DOI:10.1002/mus.26469
68. J Neurol Sci. 2019 Mar 16;400:119-121. doi: 10.1016/j.jns.2019.03.013. [Epub ahead of print] Neuronal intranuclear inclusion disease showing blepharoptosis and positive serum anti-acetylcholine receptor antibody without myasthenia gravis. Hayashi K1, Hamaguchi T2, Sakai K3, Nakamura K4, Wakabayashi K5, Shirasaki H6, Yamada M7. 1Department of Neurology and Neurobiology of Aging, Kanazawa University Graduate School of Medical Sciences, Kanazawa, Japan. Electronic address: [email protected]. 2Department of Neurology and Neurobiology of Aging, Kanazawa University Graduate School of Medical Sciences, Kanazawa, Japan. Electronic address: [email protected]. 3Department of Neurology and Neurobiology of Aging, Kanazawa University Graduate School of Medical Sciences, Kanazawa, Japan. Electronic address: [email protected]. 4Department of Neurology and Neurobiology of Aging, Kanazawa University Graduate School of Medical Sciences, Kanazawa, Japan; Department of Neuropathology, Institute of Brain Science, Hirosaki University Graduate School of Medicine, Hirosaki, Japan. Electronic address: [email protected]. 5Department of Neuropathology, Institute of Brain Science, Hirosaki University Graduate School of Medicine, Hirosaki, Japan. Electronic address: [email protected]. 6Department of Neurology, Kouseiren Takaoka Hospital, Takaoka, Japan. Electronic address: [email protected]. 7Department of Neurology and Neurobiology of Aging, Kanazawa University Graduate School of Medical Sciences, Kanazawa, Japan. Electronic address: [email protected]. KEYWORDS: Anti-acetylcholine receptor antibody; Myopathy and blepharoptosis; Neuronal intranuclear inclusion disease PMID: 30925359 DOI:10.1016/j.jns.2019.03.013
69. J Neurol. 2019 Mar 27. doi: 10.1007/s00415-019-09296-y. [Epub ahead of print] Rituximab as induction therapy in refractory myasthenia gravis: 18 month follow-up study. Singh N1, Goyal V2. 1Department of Neurology, Neurosciences Centre, All India Institute of Medical Sciences, New Delhi, 110029, India. [email protected]. 2Department of Neurology, Neurosciences Centre, All India Institute of Medical Sciences, New Delhi, 110029, India. KEYWORDS: Immunetherapy; Myasthenia gravis; Refractory myasthenia gravis; Rituximab PMID: 30919039 DOI:10.1007/s00415-019-09296-y
70. Expert Rev Neurother. 2019 Mar 27:1-11. doi: 10.1080/14737175.2019.1600404. [Epub ahead of print] An update on thymectomy in myasthenia gravis. Evoli A1,2, Meacci E2,3. 1a Institute of Neurology , Università Cattolica del Sacro Cuore , Roma , Italy. 2b Institute of Thoracic Surgery , Università Cattolica del Sacro Cuore , Roma , Italy. 3c Fondazione Policlinico Gemelli , IRCCS , Roma , Italy. KEYWORDS: Myasthenia gravis; robotic-assisted thymectomy; thymectomy; thymoma; video-assisted thymectomy PMID: 30917699 DOI:10.1080/14737175.2019.1600404
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71. ACS Chem Neurosci. 2019 Mar 27. doi: 10.1021/acschemneuro.9b00041. [Epub ahead of print] Autoimmune attack of the neuromuscular junction in myasthenia gravis: nicotinic acetylcholine receptors and other targets. Paz ML, Barrantes FJ. PMID: 30916550 DOI:10.1021/acschemneuro.9b00041
72. Neurohospitalist. 2019 Apr;9(2):79-84. doi: 10.1177/1941874418811249. Epub 2018 Nov 26. Pulmonary Function Testing in Elderly Patients Treated for a Myasthenia Gravis Exacerbation. van Gaal SC1, English SW2, Bourque PRJ3, Zwicker JC3. 1Division of Neurology, Department of Medicine, University of British Columbia, Vancouver, British Columbia, Canada. 2Division of Neurology, Department of Medicine, University of Ottawa, Ottawa, Ontario, Canada. 3Department of Medicine (Critical Care), University of Ottawa, Ottawa, Ontario, Canada. KEYWORDS: age effects; elderly; myasthenia gravis; myasthenia gravis exacerbation; pulmonary function tests; vital capacity PMID: 30915185 PMCID:PMC6429677 [Available on 2020-04-01] DOI:10.1177/1941874418811249
73. Tanaffos. 2018 Mar;17(3):177-182. Effect of Diaphragm Plication in Thymoma Patients with and without Myasthenia Gravis. Bagheri R1, Haghi SZ1, Afghani R2, Azmounfar V3, Hakimian S4, Baradaran Firoozabadi M4, Morovatdar N5, Lotfian E1. 1Lung Disease Research Center, Mashhad University of Medical Sciences, Mashhad, Iran. 2Department of General Surgery, 5th of Azar Hospital, Faculty of Medicine, Golestan University of Medical Sciences, Gorgan, Iran. 3Student Research Committee, Mashhad University of Medical science, Mashhad, Iran. 4Mashhad University of Medical Science, Mashhad, Iran. 5Imam Reza Clinical Research Unit, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran. KEYWORDS: Diaphragm; Myasthenia gravis; Phrenic nerve; Plication; Thymoma PMID: 30915134 PMCID:PMC6428380 Free PMC Article
74. Qual Life Res. 2019 Mar 23. doi: 10.1007/s11136-019-02148-2. [Epub ahead of print] Eculizumab improves fatigue in refractory generalized myasthenia gravis. Andersen H, Mantegazza R, Wang JJ, O'Brien F, Patra K, Howard JF Jr; REGAIN Study Group. Collaborators (553) KEYWORDS: Complement; Eculizumab; Fatigue; Myasthenia gravis; Neuro-QOL Fatigue; Quality of life; Terminal complement inhibition PMID: 30905021 DOI:10.1007/s11136-019-02148-2
75. Rheumatology (Oxford). 2019 Mar 20. pii: kez093. doi: 10.1093/rheumatology/kez093. [Epub ahead of print] Comment on: Thymectomy in patients with myasthenia gravis increases the risk of autoimmune rheumatic diseases: a nationwide cohort study. Ehrenfeld M1, Shoenfeld Y1. 1The Zabludowicz Center for Autoimmune Diseases, Sheba Medical Center, Tel-Aviv University, Tel-Hashomer, Israel. Chang et al. Rheumatology 2019 ; 58 :135 –43 Thymectomy in patients with myasthenia gravis increases the risk of autoimmune rheumatic diseases: a nationwide cohort study https://www.ncbi.nlm.nih.gov/pubmed/?term=30189048 PMID: 30897627 DOI:10.1093/rheumatology/kez093
76. Curr Opin Neurol. 2019 Mar 19. doi: 10.1097/WCO.0000000000000686. [Epub ahead of print] Neurotoxicity associated with cancer immunotherapy: immune checkpoint inhibitors and chimeric antigen receptor T-cell therapy. Perrinjaquet C1,2, Desbaillets N3,2, Hottinger AF1,3. 1Department of Oncology. 2Claire Perrinjaquet and Nicolas Desbaillets contributed equally to the article. 3Department of Clinical Neurosciences, Centre Hospitalier Universitaire Vaudois & Lausanne University, Lausanne, Switzerland.
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Veille Neuromusculaire / Neuromuscular bibliography Bibliographie sur les maladies neuromusculaires / Bibliography on neuromuscular disorders n° 2019-03-3 du 16 au 31 Mars 2019 (Mars 16 to 31, 2019)
PMID: 30893101 DOI:10.1097/WCO.0000000000000686
77. Ann Thorac Surg. 2019 Mar 15. pii: S0003-4975(19)30353-4. [Epub ahead of print] Results of robotic thymectomy performed in myasthenia gravis patients older than 60 years at onset. Li F1, Takahashi R1, Bauer G1, Yousef MS1, Hotter B2, Swierzy M1, McAleenan A3, Ismail M1, Meisel A2, Rückert JC4. 1Department of Surgery, Competence Center of Thoracic Surgery, Charité University Hospital Berlin, Charitéplatz 1, 10117 Berlin, Germany. 2Department of Neurology Berlin, Charité University Hospital Berlin, Charitéplatz 1, 10117 Berlin, Germany. 3School of Social and Community Medicine, Faculty of Health Sciences, University of Bristol, Bristol, UK. 4Department of Surgery, Competence Center of Thoracic Surgery, Charité University Hospital Berlin, Charitéplatz 1, 10117 Berlin, Germany. Electronic address: [email protected]. PMID: 30885848 DOI:10.1016/j.athoracsur.2019.02.016
78. Neurol Neuroimmunol Neuroinflamm. 2019 Feb 21;6(3):e547. eCollection 2019 May. MuSK myasthenia gravis monoclonal antibodies: Valency dictates pathogenicity. Huijbers MG1, Vergoossen DL1, Fillié-Grijpma YE1, van Es IE1, Koning MT1, Slot LM1, Veelken H1, Plomp JJ1, van der Maarel SM1, Verschuuren JJ1. 1Department of Neurology (M.G.H., Y.E.F.-G., I.E.v.E., J.J.P., J.J.V.), Department of Human Genetics (M.G.H., D.L.V., Y.F.-G., I.E.v.E., S.M.v.d.M.), Department of Hematology (M.T.K., H.V.), and Department of Rheumatology (L.M.S.), Leiden University Medical Center, The Netherlands. PMID: 30882021 PMCID:PMC6410930 DOI:10.1212/NXI.0000000000000547 Free PMC Article
79. Front Genet. 2019 Mar 1;10:136. doi: 10.3389/fgene.2019.00136. eCollection 2019. Using Whole Genome Sequencing in an African Subphenotype of Myasthenia Gravis to Generate a Pathogenetic Hypothesis. Nel M1, Mulder N2, Europa TA1, Heckmann JM1. 1Neurology Research Group, Division of Neurology, Department of Medicine, University of Cape Town, Cape Town, South Africa. 2Computational Biology Division, Institute of Infectious Disease and Molecular Medicine, University of Cape Town, Cape Town, South Africa. KEYWORDS: African; HLA-DPB1; association; extraocular muscle; extreme phenotype; myasthenia gravis; ophthalmoplegia; whole genome sequencing PMID: 30881381 PMCID: PMC6406016 DOI:10.3389/fgene.2019.00136 Free PMC Article
80. J Clin Med. 2019 Mar 12;8(3). pii: E347. doi: 10.3390/jcm8030347. Association of PTPN22 1858C/T Polymorphism with Autoimmune Diseases: A Systematic Review and Bayesian Approach. Tizaoui K1, Kim SH2, Jeong GH3, Kronbichler A4, Lee KS5, Lee KH6,7,8, Shin JI9,10,11. 1Department of Basic Sciences, Division of Histology and Immunology, Faculty of Medicine Tunis, Tunis El Manar University, Tunis 1068, Tunisia. [email protected]. 2School of Medicine, Kyungpook National University, Daegu 41944, Korea. [email protected]. 3College of Medicine, Gyeongsang National University, Jinju 52727, Korea. [email protected]. 4Department of Internal Medicine IV (Nephrology and Hypertension), Medical University Innsbruck, 6020 Innsbruck, Austria. [email protected]. 5Severance Hospital, Yonsei University College of Medicine, Seoul 03722, Korea. [email protected]. 6Department of Pediatrics, Yonsei University College of Medicine, Yonsei-ro 50, Seodaemun-gu, C.P.O. Box 8044, Seoul 03722, Korea. [email protected]. 7Department of Pediatric Nephrology, Severance Children's Hospital, Seoul 03722, Korea. [email protected]. 8Institute of Kidney Disease Research, Yonsei University College of Medicine, Seoul 03722, Korea. [email protected]. 9Department of Pediatrics, Yonsei University College of Medicine, Yonsei-ro 50, Seodaemun-gu, C.P.O. Box 8044, Seoul 03722, Korea. [email protected]. 10Department of Pediatric Nephrology, Severance Children's Hospital, Seoul 03722, Korea. [email protected]. 11Institute of Kidney Disease Research, Yonsei University College of Medicine, Seoul 03722, Korea. [email protected]. KEYWORDS: Bayesian false discovery probability; PTPN22; autoimmune disease; false-positive report probability; genome wide association study; meta-analysis; single nucleotide polymorphism PMID: 30871019 DOI:10.3390/jcm8030347 Free full text
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Veille Neuromusculaire / Neuromuscular bibliography Bibliographie sur les maladies neuromusculaires / Bibliography on neuromuscular disorders n° 2019-03-3 du 16 au 31 Mars 2019 (Mars 16 to 31, 2019)
Myopathies congénitales – Congenital myopathies 81. Neurology. 2019 Mar 22. pii: 10.1212/WNL.0000000000007319. [Epub ahead of print] X-linked myotubular myopathy: A prospective international natural history study. Annoussamy M1, Lilien C1, Gidaro T1, Gargaun E1, Chê V1, Schara U1, Gangfuß A1, D'Amico A1, Dowling JJ1, Darras BT1, Daron A1, Hernandez A1, de Lattre C1, Arnal JM1, Mayer M1, Cuisset JM1, Vuillerot C1, Fontaine S1, Bellance R1, Biancalana V1, Buj-Bello A1, Hogrel JY1, Landy H1, Servais L2. 1From I-Motion (M.A., C.L., T.G., E.G., V.C., L.S.), Institute of Myology, Paris, France; Paediatric Neurology and Neuromuscular Center (U.S., A.G.), University of Essen, Germany; Unit of Neuromuscular and Neurodegenerative Disorders (A. D'Amico), Department of Neurosciences, Bambino Gesu Children's Research Hospital IRCCS, Rome, Italy; Division of Neurology and Program for Genetics and Genome Biology (J.J.D.), Hospital for Sick Children, Toronto, Canada; Boston Children's Hospital (B.T.D.), MA; Centre de Référence Neuromusculaire (A. Daron), CHR La Citadelle, Liège, Belgium; UCI Pediatrica (A.H.), Hospital Puerta del Mar, Cadiz, Spain; Centre de Référence Maladies Neuromusculaires Adulte (C.d.L.), Hôpital de la Croix-Rousse, Hospices Civils de Lyon; Service de Réanimation Polyvalente (J.-M.A.), Hôpital Sainte Musse, Toulon; Centre de Référence des Maladies Neuromusculaires d'Ile de France-Nord et Est (M.M.), Hôpital Armand Trousseau, Paris; Service de Neuropédiatrie Hôpital Roger Salengro (J.-M.C.), CHRU, Lille; Service de Rééducation Pédiatrique "L'Escale" (C.V., S.F.), Hôpital Mère Enfant, CHU-Lyon, France; CeRCa (R.B.), Hôpital Pierre- Zobda-Quitman, CHU de Martinique, Fort-de-France, Martinique; Laboratoire Diagnostic Génétique (V.B.), Nouvel Hôpital Civil, Strasbourg; Genethon (A.B.-B.), UMR S951 Inserm, Univ Evry, Université Paris Saclay, Evry; Neuromuscular Investigation Center (J.-Y.H.), Institute of Myology, Paris, France; and Valerion Therapeutics (H.L.), Concord, MA. 2From I-Motion (M.A., C.L., T.G., E.G., V.C., L.S.), Institute of Myology, Paris, France; Paediatric Neurology and Neuromuscular Center (U.S., A.G.), University of Essen, Germany; Unit of Neuromuscular and Neurodegenerative Disorders (A. D'Amico), Department of Neurosciences, Bambino Gesu Children's Research Hospital IRCCS, Rome, Italy; Division of Neurology and Program for Genetics and Genome Biology (J.J.D.), Hospital for Sick Children, Toronto, Canada; Boston Children's Hospital (B.T.D.), MA; Centre de Référence Neuromusculaire (A. Daron), CHR La Citadelle, Liège, Belgium; UCI Pediatrica (A.H.), Hospital Puerta del Mar, Cadiz, Spain; Centre de Référence Maladies Neuromusculaires Adulte (C.d.L.), Hôpital de la Croix-Rousse, Hospices Civils de Lyon; Service de Réanimation Polyvalente (J.-M.A.), Hôpital Sainte Musse, Toulon; Centre de Référence des Maladies Neuromusculaires d'Ile de France-Nord et Est (M.M.), Hôpital Armand Trousseau, Paris; Service de Neuropédiatrie Hôpital Roger Salengro (J.-M.C.), CHRU, Lille; Service de Rééducation Pédiatrique "L'Escale" (C.V., S.F.), Hôpital Mère Enfant, CHU-Lyon, France; CeRCa (R.B.), Hôpital Pierre- Zobda-Quitman, CHU de Martinique, Fort-de-France, Martinique; Laboratoire Diagnostic Génétique (V.B.), Nouvel Hôpital Civil, Strasbourg; Genethon (A.B.-B.), UMR S951 Inserm, Univ Evry, Université Paris Saclay, Evry; Neuromuscular Investigation Center (J.-Y.H.), Institute of Myology, Paris, France; and Valerion Therapeutics (H.L.), Concord, MA. [email protected]. PMID: 30902907 DOI:10.1212/WNL.0000000000007319
82. Sci Transl Med. 2019 Mar 20;11(484). pii: eaav1866. doi: 10.1126/scitranslmed.aav1866. Amphiphysin 2 modulation rescues myotubular myopathy and prevents focal adhesion defects in mice. Lionello VM1,2,3,4, Nicot AS1,2,3,4,5,6, Sartori M1,2,3,4, Kretz C1,2,3,4, Kessler P1,2,3,4, Buono S1,2,3,4, Djerroud S1,2,3,4, Messaddeq N1,2,3,4, Koebel P1,2,3,4, Prokic I1,2,3,4, Hérault Y1,2,3,4, Romero NB7,8,9, Laporte J10,2,3,4, Cowling BS1,2,3,4. 1IGBMC (Institut de Génétique et de Biologie Moléculaire et Cellulaire), 67404 Illkirch, France. 2INSERM U1258, 67404 Illkirch, France. 3CNRS UMR7104, 67404 Illkirch, France. 4Strasbourg University, 67404 Illkirch, France. 5Grenoble Institute des Neurosciences, Université Grenoble Alpes, 38706 Grenoble, France. 6INSERM U1216, 38706 Grenoble, France. 7Université Sorbonne, UPMC Univ Paris 06, INSERM UMRS974, CNRS FRE3617, Center for Research in Myology, GH Pitié-Salpêtrière, 47 Boulevard de l'hôpital, 75013 Paris, France. 8Centre de référence de Pathologie Neuromusculaire Paris-Est, Institut de Myologie, GHU Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, 75013 Paris, France. 9Neuromuscular Morphology Unit, Institut de Myologie, GHU Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, 75013 Paris, France. 10IGBMC (Institut de Génétique et de Biologie Moléculaire et Cellulaire), 67404 Illkirch, France. [email protected]. PMID: 30894500 DOI:10.1126/scitranslmed.aav1866
83. Mol Genet Genomic Med. 2019 Mar 18:e621. doi: 10.1002/mgg3.621. [Epub ahead of print] Three novel MTM1 pathogenic variants identified in Japanese patients with X-linked myotubular myopathy.
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Veille Neuromusculaire / Neuromuscular bibliography Bibliographie sur les maladies neuromusculaires / Bibliography on neuromuscular disorders n° 2019-03-3 du 16 au 31 Mars 2019 (Mars 16 to 31, 2019)
Nishikawa A1, Iida A2, Hayashi S1, Okubo M1, Oya Y3, Yamanaka G4, Takahashi I5, Nonaka I1, Noguchi S1, Nishino I1,2. 1Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan. 2Department of Clinical Genome Analysis, Medical Genome Center, National Center of Neurology and Psychiatry, Tokyo, Japan. 3Department of Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Tokyo, Japan. 4Department of Pediatrics, Tokyo Medical University Hospital, Tokyo, Japan. 5Department of Pediatrics, Akita University, Faculty of Medicine, Akita, Japan. KEYWORDS: MTM1 ; X-linked myotubular myopathy; novel variants; targeted gene panel system PMID: 30884204 DOI:10.1002/mgg3.621 Free full text
84. J Neurol. 2019 Mar 14. doi: 10.1007/s00415-019-09267-3. [Epub ahead of print] Congenital myopathies are mainly associated with a mild cardiac phenotype. Petri H1, Wahbi K2, Witting N3, Køber L4, Bundgaard H4, Kamoun E5, Vellieux G5, Stojkovic T5, Béhin A5, Laforet P6,7, Vissing J3. 1Department of Cardiology, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark. [email protected]. 2APHP, Cochin Hospital, Cardiology Department, Centre de Référence de Pathologie, Neuromusculaire Nord/Est/Ile de France, Paris-Descartes, Sorbonne Paris Cité University, 75006, Paris, France. 3Department of Neurology, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark. 4Department of Cardiology, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark. 5Myology Institute, Nord/Est/Ile de France Neuromuscular Center, Pitié-Salpêtière hospital, APHP, Paris, France. 6Neurology Department, Nord/Est/Ile de France Neuromuscular Center, Raymond Poincaré Teaching Hospital, APHP, 92380, Garches, France. 7END-ICAP, INSERM U1179, Université Versailles Saint-Quentin-en-Yvelines, Montigny-le-Bretonneux, France. KEYWORDS: Arrhythmia; Congenital myopathies; Echocardiography; Heart failure PMID: 30874888 DOI:10.1007/s00415-019-09267-3
85. Sci Rep. 2019 Mar 29;9(1):5353. doi: 10.1038/s41598-019-41795-w. K336I mutant actin alters the structure of neighbouring protomers in filaments and reduces affinity for actin-binding proteins. Umeki N1,2, Shibata K3,4, Noguchi TQP5, Hirose K3, Sako Y6, Uyeda TQP3,7. 1Cellular Informatics Lab., RIKEN, Wako, Saitama, 351-0198, Japan. [email protected]. 2Biomedical Research Institute, National Institute of Advanced Industrial Science and Technology (AIST), Tsukuba, Ibaraki, 305-8562, Japan. [email protected]. 3Biomedical Research Institute, National Institute of Advanced Industrial Science and Technology (AIST), Tsukuba, Ibaraki, 305-8562, Japan. 4Advanced ICT Research Institute, National Institute of Information and Communications Technology (NICT), Kobe, Hyogo, 651-2492, Japan. 5National Institute of Technology, Miyakonojo College, Miyakonojo, Miyazaki, 885-8567, Japan. 6Cellular Informatics Lab., RIKEN, Wako, Saitama, 351-0198, Japan. 7Department of Physics, Waseda University, Shinjuku, Tokyo, 169-8555, Japan. PMID: 30926871 PMCID:PMC6441083 DOI:10.1038/s41598-019-41795-w Free PMC Article
Myopathies distales – Distal myopathies 86. Genet Test Mol Biomarkers. 2019 Mar 22. doi: 10.1089/gtmb.2018.0185. [Epub ahead of print] Flexi-Myo Panel Strategy: Genomic Diagnoses of Myopathies and Muscular Dystrophies by Next- Generation Sequencing. Lee HH1, Lau WL2, Ko CH2, Lee KC1, Cheng FY3, Wong S1,4, Woo YH5, Mak CM1. 1 Department of Pathology, Princess Margaret Hospital, Hong Kong, China. 2 Department of Paediatrics and Adolescent Medicine and Caritas Medical Centre, Hong Kong, China. 3 Department of Clinical Pathology, Caritas Medical Centre, Hong Kong, China. 4 Pathology Department, St. Paul's Hospital, Hong Kong, China. 5 Department of Radiology, Caritas Medical Centre, Hong Kong, China. KEYWORDS: Laing myopathy; congenital muscle disorders; distal myopathies; myosin beta heavy chain; next-generation sequencing PMID: 30907627 DOI:10.1089/gtmb.2018.0185
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87. Chin Med J (Engl). 2019 Apr 5;132(7):856-859. doi: 10.1097/CM9.0000000000000148. A novel MYH7 mutation resulting in Laing distal myopathy in a Chinese family. Liu XY1, Zhang YS1, Sun AP1, Zhong YF2, Zheng DF2, Fan DS1,3. 1Department of Neurology, Peking University Third Hospital, Beijing 100191, China. 2Department of Pathology, Peking University Health Science Center, Beijing 100191, China. 3Key Laboratory for Neuroscience, Ministry of Education/National Health Commission, Peking University, Beijing 100191, China. PMID: 30897599 DOI:10.1097/CM9.0000000000000148
Myopathies liées à la dynamine-2 – Dynamin-2 related myopathies 88. J Cell Sci. 2019 Mar 29. pii: jcs.226530. doi: 10.1242/jcs.226530. [Epub ahead of print] ArhGEF37 assists Dynamin2 during Clathrin-mediated endocytosis. Viplav A1,2, Saha T1,2, Huertas J1,3, Selenschik P1,2, Ebrahimkutty MP1,2, Grill D1,4, Lehrich J2, Hentschel A5, Biasizzo M1,2,6, Mengoni S1,2,7, Ahrends R5, Gerke V1,4, Cojocaru V1,3, Klingauf J1,2, Galic M8,2. 1DFG Cluster of Excellence 'Cells in Motion', University of Muenster, Germany. 2Institute of Medical Physics and Biophysics, University of Muenster, Germany. 3Computational Structural Biology Group, Dept. of Cell and Developmental Biology, Max Planck Institute for Molecular Biomedicine, Muenster, Germany. 4Institute for Medical Biochemistry, ZMBE, University of Muenster, Germany. 5Leibniz-Institut für Analytische Wissenschaften, ISAS, Dortmund, Germany. 6Current address: University of Ljubljana, Slovenia. 7Current address: University of Camerino, Italy. 8DFG Cluster of Excellence 'Cells in Motion', University of Muenster, Germany [email protected]. KEYWORDS: ArhGEF37; BAR domain; CME; Clathrin Mediated Endocytosis; Dynamin2; Endocytosis PMID: 30926623 DOI:10.1242/jcs.226530 Free full text
89. Mol Ther Nucleic Acids. 2019 Feb 27;16:246-256. doi: 10.1016/j.omtn.2019.02.019. [Epub ahead of print] Allele-Specific CRISPR/Cas9 Correction of a Heterozygous DNM2 Mutation Rescues Centronuclear Myopathy Cell Phenotypes. Rabai A1, Reisser L1, Reina-San-Martin B1, Mamchaoui K2, Cowling BS1, Nicot AS1, Laporte J3. 1Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Illkirch 67404, France; INSERM U1258, Illkirch 67404, France; CNRS UMR7104, Illkirch 67404, France; Strasbourg University, Illkirch 67404, France. 2UMR S787, Institut de Myologie, Université Pierre et Marie Curie, 75013 Paris, France. 3Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Illkirch 67404, France; INSERM U1258, Illkirch 67404, France; CNRS UMR7104, Illkirch 67404, France; Strasbourg University, Illkirch 67404, France. Electronic address: [email protected]. KEYWORDS: CRISPR; Cas9; allele-specific; autophagy; centronuclear myopathy; congenital myopathy; dominant mutation; dynamin; endocytosis; therapy PMID: 30925452 DOI:10.1016/j.omtn.2019.02.019 Free full text
Myopathies liées à SEPN1 – SEPN1-related myopathies 90. Redox Biol. 2019 Mar 23;24:101176. doi: 10.1016/j.redox.2019.101176. [Epub ahead of print] SELENON (SEPN1) protects skeletal muscle from saturated fatty acid-induced ER stress and insulin resistance. Varone E1, Pozzer D1, Di Modica S1, Chernorudskiy A1, Nogara L2, Baraldo M2, Cinquanta M3, Fumagalli S4, Villar-Quiles RN5, De Simoni MG4, Blaauw B2, Ferreiro A5, Zito E6. 1Dulbecco Telethon Institute at Istituto di Ricerche Farmacologiche Mario Negri, IRCCS, Milan, Italy. 2Department of Biomedical Sciences, University of Padua, Padua, Italy; Venetian Institute of Molecular Medicine, Padua, Italy. 3Cogentech Società Benefit srl, at IFOM, Via Adamello, Milan, Italy. 4Istituto di Ricerche Farmacologiche Mario Negri, IRCCS, Milan, Italy. 5Pathophysiology of Striated Muscles laboratory, Unit of Functional and Adaptive Biology, BFA, University Paris Diderot/CNRS, Sorbonne Paris Cité, Paris, France - AP-HP, Centre de Référence Maladies Neuromusculaires Paris-Est, Groupe Hospitalier Pitié-Salpêtrière, 75013, Paris, France. 6Dulbecco Telethon Institute at Istituto di Ricerche Farmacologiche Mario Negri, IRCCS, Milan, Italy. Electronic address: [email protected]. KEYWORDS: Congenital myopathies; ER stress response; Insulin resistance; SELENON; SEPN1
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Veille Neuromusculaire / Neuromuscular bibliography Bibliographie sur les maladies neuromusculaires / Bibliography on neuromuscular disorders n° 2019-03-3 du 16 au 31 Mars 2019 (Mars 16 to 31, 2019)
PMID: 30921636 DOI:10.1016/j.redox.2019.101176
Myopathies inflammatoires – Inflammatory myopathies 91. Eur Radiol. 2019 Mar 27. doi: 10.1007/s00330-019-06152-5. [Epub ahead of print] Prognostic factors of interstitial lung disease progression at sequential HRCT in anti-synthetase syndrome. Liu H1, Xie S2, Liang T1, Ma L3, Sun H1, Dai H4, Wang C5. 1Department of Radiology, China-Japan Friendship Hospital, Beijing, 100029, China. 2Department of Radiology, China-Japan Friendship Hospital, Beijing, 100029, China. [email protected]. 3Department of Rheumatology, China-Japan Friendship Hospital, Beijing, 100029, China. 4Department of Pulmonology, Beijing Chaoyang Hospital, Beijing, 100029, China. 5Department of Pulmonology, China-Japan Friendship Hospital, Beijing, 100029, China. KEYWORDS: Dermatomyositis; Interstitial lung disease; Polymyositis; Prognosis PMID: 30919069 DOI: 10.1007/s00330-019-06152-5
92. J Immunol Res. 2019 Feb 19;2019:2927061. doi: 10.1155/2019/2927061. eCollection 2019. Specific Autoantibodies and Clinical Phenotypes Correlate with the Aberrant Expression of Immune- Related MicroRNAs in Dermatomyositis. Ye L1,2, Zuo Y1, Yang H1, Li W1, Peng Q1, Lu X1, Wang G1,2, Shu X1. 1Department of Rheumatology, Beijing Key Lab for Immune-Mediated Inflammatory Diseases, China-Japan Friendship Hospital, Yinghua East Road, Chaoyang District, Beijing 100029, China. 2Peking University China-Japan Friendship School of Clinical Medicine, Beijing 100029, China. PMID: 30915368 PMCID:PMC6399529 DOI:10.1155/2019/2927061 Free PMC Article
93. Front Immunol. 2019 Mar 12;10:444. doi: 10.3389/fimmu.2019.00444. eCollection 2019. Diagnostic Utility of Separate Anti-Ro60 and Anti-Ro52/TRIM21 Antibody Detection in Autoimmune Diseases. Robbins A1, Hentzien M1, Toquet S2, Didier K1,3, Servettaz A1,3, Pham BN3,4, Giusti D3,4. 1Department of Internal Medicine, Infectious Diseases, and Clinical Immunology, Robert Debré Hospital, Reims University Hospitals, Reims, France. 2Department of Internal Medicine, Robert Debré Hospital, Reims University Hospitals, Reims, France. 3Laboratory of Dermatology, Faculty of Medicine, University of Reims Champagne-Ardenne, Reims, France. 4Laboratory of Immunology, Reims University Hospital, University of Reims Champagne-Ardenne, Reims, France. KEYWORDS: TRIM21; anti-Ro52 antibodies; anti-Ro60 antibodies; anti-SSA antibodies; autoimmune diseases; connective tissue disease; primary Sjögren's syndrome; systemic lupus PMID: 30915082 PMCID:PMC6423153 DOI:10.3389/fimmu.2019.00444 Free PMC Article
94. Eur J Cancer. 2019 Mar 23;112:47-48. doi: 10.1016/j.ejca.2019.02.010. [Epub ahead of print] Letter in response to 'Myositis and neuromuscular side-effects induced by immune checkpoint inhibitors'. Leclair V1, Landon-Cardinal O2, Hudson M3. 1Department of Medicine, McGill University, Canada; Division of Rheumatology, Jewish General Hospital, Montreal, Canada. Electronic address: [email protected]. 2Department of Medicine, Université de Montréal, Canada; Division of Rheumatology, Centre Hospitalier Universitaire de Montréal, Montreal, Canada. 3Department of Medicine, McGill University, Canada; Division of Rheumatology, Jewish General Hospital, Montreal, Canada; Lady Davis Institute, Montreal, Quebec, Canada. Moreira et al. European Journal of Cancer Volume 106, January 2019, Pages 12-23 Myositis and neuromuscular side- effects induced by immune checkpoint inhibitors: https://www.sciencedirect.com/science/article/pii/S0959804918314035 PMID: 30913530 DOI:10.1016/j.ejca.2019.02.010
95. Ann Rheum Dis. 2019 Mar 25. pii: annrheumdis-2019-215031. [Epub ahead of print] Idiopathic inflammatory myopathies and antisynthetase syndrome: contribution of antisynthetase antibodies to improve current classification criteria. Greco M1, García de Yébenes MJ2, Alarcón I3, Brandy-García AM4, Rúa-Figueroa Í5, Loza E2, Carmona L2.
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Veille Neuromusculaire / Neuromuscular bibliography Bibliographie sur les maladies neuromusculaires / Bibliography on neuromuscular disorders n° 2019-03-3 du 16 au 31 Mars 2019 (Mars 16 to 31, 2019)
1Rheumatology Department, Hospital Universitario de Gran Canaria Dr. Negrín, Las Palmas de Gran Canaria, Spain [email protected]. 2Instituto de Salud Musculoesquelética, Madrid, Spain. 3Biochemical Department, Autoimmunity Laboratory, Hospital Universitario de Gran Canaria Dr. Negrín, Las Palmas de Gran Canaria, Spain. 4Rheumatology Department, Hospital Universitario Central de Asturias, Oviedo, Spain. 5Rheumatology Department, Hospital Universitario de Gran Canaria Dr. Negrín, Las Palmas de Gran Canaria, Spain. KEYWORDS: autoantibodies; autoimmune diseases; dermatomyositis; polymyositis PMID: 30910990 DOI:10.1136/annrheumdis-2019-215031
96. CMAJ. 2019 Mar 25;191(12):E340. doi: 10.1503/cmaj.180947. Dermatomyositis. Chu LL1, Rohekar G2. 1Postgraduate Medical Education (Chu), Schulich School of Medicine & Dentistry, Western University; Department of Rheumatology (Rohekar), St. Joseph's Health Care London, London, Ont. [email protected]. 2Postgraduate Medical Education (Chu), Schulich School of Medicine & Dentistry, Western University; Department of Rheumatology (Rohekar), St. Joseph's Health Care London, London, Ont.
PMID: 30910882 DOI:10.1503/cmaj.180947
97. J Am Acad Dermatol. 2019 Mar 22. pii: S0190-9622(19)30463-3. doi: 10.1016/j.jaad.2019.03.045. [Epub ahead of print] Relative risk of microscopic colitis in dermatomyositis. Pearson DR1, Werth VP2. 1Department of Dermatology, University of Minnesota Medical School. Electronic address: [email protected]. 2Corporal Michael J. Crescenz VAMC, Philadelphia, PA; Department of Dermatology, University of Pennsylvania Perelman School of Medicine. PMID: 30910660 DOI:10.1016/j.jaad.2019.03.045
98. Rheumatology (Oxford). 2019 Mar 25. pii: kez085. doi: 10.1093/rheumatology/kez085. [Epub ahead of print] Global analysis of protein expression in muscle tissues of dermatomyositis/polymyosisits patients demonstrated an association between dysferlin and human leucocyte antigen A. Xiao Y1,2, Zhu H1,2, Li L1,2, Gao S1,2, Liu D1,2, Dai B1,2, Li Q3, Duan H3, Yang H3, Li Q4, Zhang H5, Luo H1,2, Zuo X1,2. 1Department of Rheumatology and Immunology, Xiangya Hospital, Central South University, Changsha, China. 2Institute of Rheumatology and Immunology, Central South University, Changsha, China. 3Department of Neurology, Xiangya Hospital, Central South University, Changsha, China. 4Department of Immunology, University of Texas Southwestern Medical Center, Dallas, TX, USA. 5Department of Pathophysiology, Xiangya School of Medicine, Central South University, Changsha, China. KEYWORDS: DYSF; HLA-A; dermatomyositis; polymyositis; protein profiles PMID: 30907425 DOI:10.1093/rheumatology/kez085
99. Respirol Case Rep. 2019 Mar 12;7(4):e00412. doi: 10.1002/rcr2.412. eCollection 2019 May. Small cell lung cancer and interstitial pneumonia associated with anti-transcriptional intermediary factor-1γ-positive dermatomyositis. Kato T1, Ito S1, Tsuzuki T2, Watanabe D3, Kubo A1, Yamaguchi E1. 1Department of Respiratory Medicine and Allergology Aichi Medical University Nagakute Japan. 2Department of Surgical Pathology Aichi Medical University Nagakute Japan. 3Department of Dermatology Aichi Medical University Nagakute Japan. KEYWORDS: Dermatomyositis; interstitial lung disease; lung cancer; malignancy; transcriptional intermediary factor‐1γ PMID: 30906559 PMCID:PMC6412960 DOI:10.1002/rcr2.412 Free PMC Article
100. Clin Rheumatol. 2019 Mar 22. doi: 10.1007/s10067-019-04512-6. [Epub ahead of print] Comparison of the 2017 EULAR/ACR criteria with Bohan and Peter criteria for the classification of idiopathic inflammatory myopathies. Pinto B1, Janardana R1, Nadig R2, Mahadevan A3, Bhatt AS3, Raj JM4, Shobha V5.
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1Department of Clinical Immunology and Rheumatology, St John's Medical College, Sarjapur Road, Bengaluru, 560034, India. 2Department of Neurology, St John's Medical College, Bengaluru, India. 3Department of Neuropathology, National Institute of Mental Health and Neurosciences (NIMHANS), Bengaluru, India. 4Department of Biostatistics, St John's Medical College, Bengaluru, India. 5Department of Clinical Immunology and Rheumatology, St John's Medical College, Sarjapur Road, Bengaluru, 560034, India. [email protected]. KEYWORDS: 2017 EULAR/ACR classification criteria; Bohan and Peter; Inflammatory myopathy PMID: 30903308 DOI:10.1007/s10067-019-04512-6
101. Rheumatology (Oxford). 2019 Mar 21. pii: kez076. doi: 10.1093/rheumatology/kez076. [Epub ahead of print] Increased risk of coronary heart disease among patients with idiopathic inflammatory myositis: a nationwide population study in Taiwan. Weng MY1, Lai EC2,3, Kao Yang YH2. 1Department of Internal Medicine, Division of Allergy, Immunology, and Rheumatology, National Cheng Kung University Medical College and Hospital, Tainan, Taiwan. 2School of Pharmacy, Institute of Clinical Pharmacy and Pharmaceutical Sciences, College of Medicine, National Cheng Kung University, Tainan, Taiwan. 3Department of Pharmacy, National Cheng Kung University Hospital, Tainan, Taiwan. KEYWORDS: coronary heart disease; dermatomyositis; idiopathic inflammatory myositis; polymyositis PMID: 30903193 DOI: 10.1093/rheumatology/kez076
102. Clin Case Rep. 2019 Jan 29;7(3):461-464. doi: 10.1002/ccr3.2001. eCollection 2019 Mar. A rare presentation of benign acute childhood myositis. Chu EC1, Yip AS2. 1New York Chiropractic & Physiotherapy Center New York Medical Group Hong Kong China. 2The Department of Orthopaedics and Traumatology University of Hong Kong Hong Kong China. KEYWORDS: calf pain; creatine kinase; influenza; myositis; self‐limiting disease PMID: 30899472 PMCID:PMC6406135 DOI:10.1002/ccr3.2001 Free PMC Article
103. Arthritis Rheumatol. 2019 Mar 21. doi: 10.1002/art.40895. [Epub ahead of print] The IgG2 isotype of anti-transcription intermediary factor 1-gamma autoantibodies is a biomarker of mortality in adult dermatomyositis. Aussy A1, Fréret M1,2, Gallay L3, Bessis D4, Vincent T5, Jullien D6, Drouot L1, Fabienne J1, Joly P1,7, Isabelle M1,8, Meyer A9, Sibilia J9, Bader-Meunier B10, Hachulla E11, Hamidou M12, Huë S13, Charuel JL14, Fabien N15, Viailly PJ16, Allenbach Y17, Benveniste O17, Cordel N1,18, Boyer O1; OncoMyositis study group. Collaborators (21) 1Normandie University, UNIROUEN, IRIB, Inserm, U1234, Rouen University Hospital, Department of Immunology and Biotherapy, Rouen, France. 2Normandie University, UNIROUEN, IRIB, Inserm, U1234, Rouen University Hospital, Department of Rheumatology, Rouen, France. 3Edouard Herriot University Hospital, Department of Clinical Immunology, Lyon, France. 4Saint-Eloi Hospital and Montpellier University Hospital, Department of Dermatology, Inserm, U1051, Montpellier, France. 5Saint-Eloi Hospital and Montpellier University Hospital, Department of Immunology, Montpellier, France. 6Lyon University, Edouard Herriot University Hospital, Department of Dermatology, Lyon, France. 7Normandie University, UNIROUEN, IRIB, Inserm, U1234, Rouen University Hospital, Department of Dermatology, Rouen, France. 8Normandie University, UNIROUEN, IRIB, Inserm, U1234, Rouen University Hospital, Department of Internal Medicine, Rouen, France. 9Strasbourg University Hospital, Centre de Référence des Maladies Autoimmunes Rares, Department of Rheumatology, Strasbourg, France. 10Department of Pediatric Immunology-Hematology and Rheumatology, Necker University Hospital - AP-HP, Imagine Institute, Paris, France. 11Department of Internal Medicine and Clinical immunology, Referral Centre for Rare Systemic Auto-immune Diseases North and North-West of France, Healh Care Provider of the European Reference Network on Rare Connective Tissue and Musculoskeletal Diseases Network (ReCONNET), University of Lille, Huriez' Hospital, 59037, Lille cedex, France. 12Service de Médecine Interne, Hôtel-Dieu, CHU de Nantes, Nantes, France. 13Public Hospital Network of Paris, Henri Mondor Hospital, Department of Immunology, Créteil, France. 14Public Hospital Network of Paris, Pitié-Salpêtrière University Hospital, Laboratory of Immunochemistry, Paris.
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15Edouard Herriot University Hospital, Laboratory of Immunology, Lyon, France. 16Normandie University, UNIROUEN, IRIB, Inserm, U1245, Rouen, France. 17AP-HP, GH Pitié-Salpêtrière, Département de médecine Interne et Immunologie Clinique, Centre de Référence Maladies Neuro-Musculaires, DHUi2B, Centre de Recherche en Myologie UMRS 974 UPMC - INSERM, Paris, France. 18French West Indies University, Guadeloupe Fouillole Campus, Pointe-à-Pitre University Hospital, Unit of Dermatology and Internal Medicine, Pointe-à-Pitre, Guadeloupe. PMID: 30896088 DOI:10.1002/art.40895
104. Clin Rheumatol. 2019 Mar 19. doi: 10.1007/s10067-019-04501-9. [Epub ahead of print] Serum KL-6 is associated with the severity of interstitial lung disease in Chinese patients with polymyositis and dermatomyositis. Hu C1,2, Wu C1,2, Yang E1,2, Huang H3, Xu D1,2, Hou Y1,2, Zhao J1,2, Li M1,2, Xu Z3, Zeng X4,5, Wang Q6,7. 1Department of Rheumatology, Peking Union Medical College Hospital, Peking Union Medical College &Chinese Academy of Medical Sciences, No.1 Shuaifuyuan, Beijing, 100730, China. 2Key Laboratory of Rheumatology and Clinical Immunology, Ministry of Education, No.1 Shuaifuyuan, Beijing, 100730, China. 3Department of Respiratory Medicine, Peking Union Medical College Hospital, Peking Union Medical College &Chinese Academy of Medical Sciences, No.1 Shuaifuyuan, Beijing, 100730, China. 4Department of Rheumatology, Peking Union Medical College Hospital, Peking Union Medical College &Chinese Academy of Medical Sciences, No.1 Shuaifuyuan, Beijing, 100730, China. [email protected]. 5Key Laboratory of Rheumatology and Clinical Immunology, Ministry of Education, No.1 Shuaifuyuan, Beijing, 100730, China. [email protected]. 6Department of Rheumatology, Peking Union Medical College Hospital, Peking Union Medical College &Chinese Academy of Medical Sciences, No.1 Shuaifuyuan, Beijing, 100730, China. [email protected]. 7Key Laboratory of Rheumatology and Clinical Immunology, Ministry of Education, No.1 Shuaifuyuan, Beijing, 100730, China. [email protected]. KEYWORDS: Dermatomyositis; Interstitial lung disease; KL-6; Polymyositis; Pulmonary function test PMID: 30888566 DOI:10.1007/s10067-019-04501-9
105. J Gen Intern Med. 2019 Mar 18. doi: 10.1007/s11606-019-04931-w. [Epub ahead of print] A Patient with Sjogren's Syndrome and Subsequent Diagnosis of Inclusion Body Myositis and Light- Chain Amyloidosis. Hom J1,2, Marwaha S3,4, Postolova A5, Kittle J6, Vasquez R7, Davidson J3, Kohler J3, Dries A3, Fernandez-Betancourt L3, Majcherska M3, Dearlove J8, Raghavan S9, Vogel H9, Bernstein JA3,10, Fisher P3,11, Ashley E3,4, Sampson J3,8, Wheeler M3,4; Undiagnosed Diseases Network. 1Stanford Center for Undiagnosed Diseases, Stanford University School of Medicine, Stanford, CA, USA. [email protected]. 2Division of Hospital Medicine, Department of Medicine, Stanford University School of Medicine, Stanford, CA, USA. [email protected]. 3Stanford Center for Undiagnosed Diseases, Stanford University School of Medicine, Stanford, CA, USA. 4Division of Cardiovascular Medicine, Department of Medicine, Stanford University School of Medicine, Stanford, CA, USA. 5Division of Immunology and Rheumatology, Stanford University School of Medicine, Stanford, CA, USA. 6Division of Hospital Medicine, Department of Medicine, Stanford University School of Medicine, Stanford, CA, USA. 7Division of Primary Care and Population Health, Department of Medicine, Stanford University School of Medicine, Stanford, CA, USA. 8Department of Neurology, Stanford University School of Medicine, Stanford, CA, USA. 9Department of Pathology, Stanford University School of Medicine, Stanford, CA, USA. 10Division of Medical Genetics, Department of Pediatrics, Stanford University School of Medicine, Stanford, CA, USA. 11Division of Child Neurology, Department of Neurology, Stanford University School of Medicine, Stanford, CA, USA. KEYWORDS: Sjogren’s syndrome; amyloidosis; immunophenotyping; inclusion body myositis PMID: 30887439 DOI:10.1007/s11606-019-04931-w
106. RMD Open. 2019 Feb 26;5(1):e000811. doi: 10.1136/rmdopen-2018-000811. eCollection 2019. Distinct interferon signatures stratify inflammatory and dysimmune myopathies. Rigolet M1, Hou C1, Baba Amer Y1, Aouizerate J1,2, Periou B1, Gherardi RK1,2, Lafuste P1, Authier FJ1,2. 1IMRB, Inserm U955-Team 10, Paris Est-Creteil University, Paris, France. 2Reference Center for Neuromuscular Diseases, Henri Mondor University Hospitals, Paris, France. KEYWORDS: ISG15; antisynthetase; dermatomyositis; inclusion body myositis; inflammatory myopathy; interferon; major histocompatibility class 2 (MHC-2); necrotising autoimmune myopathies
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PMID: 30886734 PMCID:PMC6397431DOI:10.1136/rmdopen-2018-000811 Free PMC Article
107. RMD Open. 2019 Feb 26;4(Suppl 1):e000784. doi: 10.1136/rmdopen-2018-000784. eCollection 2018. Idiopathic inflammatory myopathies: narrative review of unmet needs in clinical practice guidelines. Meyer A1,2, Scirè CA3, Talarico R4, Alexander T5, Amoura Z6, Avcin T7, Barsotti S8,9, Beretta L10, Blagojevic J11, Burmester G5, Cavazzana I12, Cherrin P6, Damian L13, Doria A14, Fonseca JE15, Furini F16, Galetti I17, Houssiau F18, Krieg T19, Maddalena L14, Launay D20, Campanilho-Marques R15, Martin T21, Matucci-Cerinic M11, Moinzadeh P19, Montecucco C22, Moraes-Fontes MF23, Mouthon L24, Neri R4, Paolino S25, Piette Y26, Rednic S13, Tamirou F18, Tincani A12, Toplak N7, Bombardieri S27, Hachulla E20, Mueller-Ladner U28, Schneider M29, Smith V26, Vieira A30, Cutolo M25, Mosca M4,8, Cavagna L22. 1Centre National de Référence des Maladies Systémiques et Auto-immunes Rares Grand-Est Sud-Ouest (RESO), Service de humatologie, Service de physiologie, Unité d'explorations fonctionnelles musculaires, Hôpitaux Universitaires de Strasbourg, Strasbourg, France. 2EA3072, Fédération de Médecine Translationelle, Université de Strasbourg, Strasbourg, France. 3Section of Rheumatology, Department of Medical Sciences, University of Ferrara, Ferrara, Italy. 4Rheumatology Unit, AOU Pisana, Pisa, Italy. 5Department of Rheumatology and Clinical Immunology, Charité University Hospital Berlin, Berlin, Germany. 6Department of Internal Medicine, Hospital Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, Paris, France. 7Department of Allergology, Rheumatology and Clinical Immunology, University Children's Hospital, University Medical Centre Ljubljana, Ljubljana, Slovenia. 8Rheumatology Unit, University of Pisa, Pisa, Italy. 9Department of Medical Biotechnology, University of Siena, Siena, Italy. 10Referral Center for Systemic Autoimmue Diseases, Referral Center for Systemic Autoimmue DiseasesFondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico di Milano, Milan, Italy. 11Department of Clinical and Experimental Medicine, Department of Geriatric Medicine, Division of Rheumatology and Scleroderma Unit, University of Florence, AOUC, Florence, Italy. 12Rheumatology and Clinical Immunology Unit, Civil Hospital, Brescia, Italy. 13Department of Rheumatology, Emergency County Teaching Hospital, Cluj-Napoca, Romania. 14Rheumatology Unit, Department of Medicine, AO Padova and University of Padua, Padua, Italy. 15Rheumatology Department, Hospital de Santa Maria, Centro Hospitalar Lisboa Norte, Lisbon Academic Medical Centre, Lisbon, Portugal. 16Section of Rheumatology, Department of Medical Sciences, Sant'Anna University Hospital, Ferrara, Italy. 17FESCA, Federation of European Scleroderma Associations, Milan, Italy. 18Department of Rheumatology, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Louvain-la-Neuve, Belgium. 19Department of Dermatology, Universitätsklinikum Köln, Cologne, Germany. 20Département de Médecine Interne et Immunologie Clinique, Centre de Référence des Maladies Systémiques et Auto- Immunes Rares du Nord-Ouest (CERAINO), Université de Lille, CHU Lille, LIRIC, INSERM, Lille, France. 21Departement of Internal Medicine, Centre National de Référence des Maladies Systémiques et Auto-immunes Rares Grand-Est Sud-Ouest (RESO), Hôpitaux Universitaires de Strasbourg, France, Strasbourg, France. 22Division of Rheumatology, University and IRCCS Policlinico S. Matteo Foundation, Pavia, Italy. 23Unidade de Doenças Auto-imunes/Medicina 7.2, Hospital de Curry Cabral, Centro Hospitalar de Lisboa Central, Lisbon, Portugal. 24Service de Médecine Interne, Centre de Référence Maladies systémiques Autoimmunes Rares d'Ile de France, Assistance Publique-Hôpitaux de Paris (AP-HP), Hôpital Cochin, Université Paris Descartes, Paris, France. 25Research Laboratory and Academic Division of Clinical Rheumatology, Department of Internal Medicine, IRCCS Polyclinic Hospital San Martino, University of Genoa, Genoa, Italy. 26Department of Rheumatology, Department of Internal Medicine, Ghent University Hospital, Ghent University, Ghent, Belgium. 27University of Pisa, Pisa, Italy. 28Department of Rheumatology and Clinical Immunology, Kerckhoff Klinik, Justus-Liebig University of Giessen, Bad Nauheim, Germany. 29Department of Rheumatology, Universitätsklinikum Düsseldorf, Düsseldorf, Germany. 30Liga Portuguesa Contra as Doenças Reumáticas, Núcleo Síndrome de Sjögren, Lisbon, Portugal. PMID: 30886730 PMCID: PMC6397434 DOI:10.1136/rmdopen-2018-000784 Free PMC Article
108. Rheumatology (Oxford). 2019 Mar 16. pii: kez083. doi: 10.1093/rheumatology/kez083. [Epub ahead of print] FDG-PET detects extensive calcinosis cutis in anti-NXP2 antibody-positive dermatomyositis. Nakamura N1, Izumi R1, Hoshi Y2, Takai Y1, Ono R1, Suzuki N1, Nagai T2, Ishii Y2, Ishii T2, Harigae H2, Okada S3, Aiba S3, Okiyama N4, Fujimoto M4, Kuroda H1, Tateyama M1,5, Aoki M1. 1Department of Neurology, Tohoku University School of Medicine, Miyagi, Japan.
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2Department of Hematology and Rheumatology, Tohoku University School of Medicine, Miyagi, Japan. 3Department of Dermatology, Tohoku University School of Medicine, Miyagi, Japan. 4Department of Dermatology, Faculty of Medicine, University of Tsukuba, Ibaraki, Japan. 5Department of Neurology, National Hospital Organization Iwate Hospital, Iwate, Japan. PMID: 30879053 DOI: 10.1093/rheumatology/kez083
109. J Rheumatol. 2019 Mar 15. pii: jrheum.181248. doi: 10.3899/jrheum.181248. [Epub ahead of print] Acute coronary syndrome in idiopathic inflammatory myopathies: a population-based study. Leclair V1, Svensson J1, Lundberg IE1, Holmqvist M1. 1From the Unit of Clinical Epidemiology, Department of Medicine, Solna, Karolinska University Hospital, Karolinska Institutet, Stockholm, Sweden; Division of Rheumatology, Jewish General Hospital, Montreal, Canada, 3Division of Rheumatology, Department of Medicine, Solna, Karolinska Institutet, Karolinska University Hospital, Stockholm, Sweden. Dr Lundberg was supported by grants from the Swedish Research Council, the Swedish Rheumatism Association, King Gustaf V 80 Year Foundation, and the Stockholm County Council (ALF project). Dr Holmqvist was supported by grants from the Swedish Rheumatism Association, the King Gustaf V 60 Year Foundation, the Nanna Svartz Foundation, and the Stockholm County Council (ALF project). Dr Lundberg has received honoraria from Bristol Myers Squibb and MedImmune and is currently receiving a research grant from Bristol Myers Squibb and from Astra Zeneca for projects unrelated to the present manuscript. No reference is made to specific products in our work, nor do we suggest therapeutic choices in our conclusions. The other authors declare no competing interests. Address correspondence to Valérie Leclair, MD, Karolinska Institutet, Unit of Clinical Epidemiology, Karolinska Hospital T2, SE-17176, Stockholm. PMID: 30877220 DOI:10.3899/jrheum.181248
110. Jpn J Radiol. 2019 Mar 14. doi: 10.1007/s11604-019-00824-4. [Epub ahead of print] Imaging findings of mixed connective tissue disease in children and adolescents: a case series. Gorkem SB1, Doria AS2, Tse S3. 1Department of Diagnostic Imaging, The Hospital for Sick Children, Department of Medical Imaging, University of Toronto, Toronto, ON, Canada. [email protected]. 2Department of Diagnostic Imaging, The Hospital for Sick Children, Department of Medical Imaging, University of Toronto, Toronto, ON, Canada. 3Department of Rheumatology, The Hospital for Sick Children, Department of Medical Imaging, University of Toronto, Toronto, ON, Canada. KEYWORDS: Children and adolescents; Differential diagnosis; Imaging; Juvenile idiopathic arthritis; Mixed connective tissue disorder; Polymyositis/dermatomyositis; Systemic lupus erythematosus; Systemic sclerosis PMID: 30875012 DOI:10.1007/s11604-019-00824-4
111. Rheumatol Int. 2019 Apr;39(4):743-750. doi: 10.1007/s00296-019-04268-x. Epub 2019 Mar 14. Is it required to routinely check fibrinogen level in patients with rheumatic diseases on tocilizumab? Case-based review. Üsküdar Cansu D1, Demirtaş E2, Andiç N3, Üsküdar Teke H3, Korkmaz C4. 1Division of Rheumatology, Department of Internal Medicine, School of Medicine, Eskişehir Osmangazi University, Eskisehir, Turkey. [email protected]. 2Department of Internal Medicine, Eskişehir Osmangazi University, Eskisehir, Turkey. 3Division of Hematology, Department of Internal Medicine, Eskişehir Osmangazi University, Eskisehir, Turkey. 4Division of Rheumatology, Department of Internal Medicine, Eskişehir Osmangazi University, Eskisehir, Turkey. KEYWORDS: Bleeding; Fibrinogen level; Hypofibrinogenemia; Tocilizumab PMID: 30874871 DOI: 10.1007/s00296-019-04268-x
112. Z Gastroenterol. 2019 Mar 14. doi: 10.1055/a-0855-4404. [Epub ahead of print] Gastric cancer and paraneoplastic dermatomyositis as complications of an unrecognized juvenile polyposis syndrome. Schiemer M1, Schmitt-Graeff A2, Brass V1,3, Hasselblatt P1. 1Department of Medicine II, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Germany. 2Institute of Pathology, Medical Center - University of Freiburg and Faculty of Medicine, University of Freiburg, Germany. 3Present address: Kliniken des Landkreises Lörrach, Germany. PMID: 30873576 DOI:10.1055/a-0855-4404
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113. Arch Rheumatol. 2018 Mar 23;33(4):488-490. doi: 10.5606/ArchRheumatol.2018.6776. eCollection 2018 Dec. Peripheral Neuropathy Presenting as Myopathy That was Confused With Inflammatory Myositis. Kim Y, Kim Y, Jin SY, Roh HJ, Kim HS. PMID: 30874248 PMCID: PMC6409178 DOI: 10.5606/ArchRheumatol.2018.6776 Free PMC Article
114. Arch Rheumatol. 2018 Jan 29;33(4):482-487. doi: 10.5606/ArchRheumatol.2018.6688. eCollection 2018 Dec. Hepatocellular Carcinoma-Associated Polymyositis Presenting With Unilateral Upper Limb Subcutaneous Edema. Meng-Ko T1, Yi-Hsin C1, You-Hsin C2, Kuo-Lung L1. 1Department of Internal Medicine, Taichung Veterans General Hospital, Taichung, Taiwan. 2Department of Radiology, Taichung Veterans General Hospital, Taichung, Taiwan. KEYWORDS: Edema; malignancy; polymyositis PMID: 30874235 PMCID:PMC6409162 DOI:10.5606/ArchRheumatol.2018.6688 Free PMC Article Similar articlesRemove from clipboard
115. BMC Rheumatol. 2017 Nov 28;1:4. doi: 10.1186/s41927-017-0002-7. eCollection 2017. Patient-centred standards of care for adults with myositis. Lilleker JB1,2, Gordon P3, Lamb JA4, Lempp H5, Cooper RG4,6, Roberts ME1, Jordan P7, Chinoy H2,8; UK Myositis Network (UKMYONET); Myositis UK. Collaborators (10) 1Greater Manchester Neuroscience Centre, Salford Royal NHS Foundation Trust, Manchester Academic Health Science Centre, Stott Lane, Salford, UK. 2NIHR Manchester Biomedical Research Centre, Central Manchester University Hospitals NHS Foundation Trust, The University of Manchester, Manchester, UK. 3King's College Hospital NHS Foundation Trust, London, UK. 4Centre for Integrated Genomic Medical Research, School of Health Sciences, Faculty of Biology Medicine and Health, The University of Manchester, Manchester, UK. 5Academic Rheumatology, Faculty of Life Sciences & Medicine, King's College London, London, UK. 6MRC-ARUK Institute for Ageing and Chronic Disease, University of Liverpool, Liverpool, UK. Myositis UK, Southampton, UK. 8Rheumatology Department, Salford Royal NHS Foundation Trust, Manchester Academic Health Science Centre, Stott Lane, Salford, UK. KEYWORDS: Delphi process; Idiopathic inflammatory myopathy; Myositis; Patient-centred care; Quality improvement; Standards of care PMID: 30886948 PMCID:PMC6383593 DOI:10.1186/s41927-017-0002-7 Free PMC Article
Myopathies métaboliques – Metabolic myopathies 116. J Inherit Metab Dis. 2019 Mar 19. doi: 10.1002/jimd.12087. [Epub ahead of print] Phosphoglycerate kinase deficiency: A nationwide multicenter retrospective study. Echaniz-Laguna A1,2,3, Nadjar Y4, Béhin A4, Biancalana V5,6, Piraud M7, Malfatti E8, Laforêt P8. 1Department of Neurology, APHP, Bicêtre University Hospital, Le Kremlin Bicêtre, France. 2French National Reference Center for Rare Neuropathies (NNERF), Le Kremlin Bicêtre, France. 3INSERM U1195 & Paris-Sud University, Le Kremlin Bicêtre, France. 4Neurology Department, Hôpital Pitié-Salpêtrière, Paris, France. 5Laboratoire Diagnostic Génétique, CHR, Strasbourg, France. 6Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), INSERM U964, CNRS UMR 7104, Fédération de Médecine Translationnelle de Strasbourg, Université de Strasbourg, Illkirch, France. 7Laboratoire des Maladies Héréditaires du Métabolisme et dépistage Néonatal, Centre de Biologie et de Pathologie Est, Hospices Civils de Lyon, Bron, France. 8Neurology Department, Hôpital Raymond Poincaré, Paris, France. KEYWORDS: PGK deficiency; PGK1 gene; myopathy; parkinsonism; polyneuropathy PMID: 30887539 DOI:10.1002/jimd.12087
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117. Mol Genet Genomic Med. 2019 Mar 27:e634. doi: 10.1002/mgg3.634. [Epub ahead of print] Uniparental isodisomy of chromosome 1 results in glycogen storage disease type III with profound growth retardation. Ponzi E1, Alesi V2, Lepri FR2, Genovese S2, Loddo S2, Mucciolo M2, Novelli A2, Dionisi-Vici C1, Maiorana A1. 1Division of Metabolism, Department of Pediatrics Specialties, Bambino Gesù Children's Hospital, Rome, Italy. 2Medical Genetics Unit, Medical Genetics Laboratory, Bambino Gesù Children's Hospital, Rome, Italy. KEYWORDS: genomic imprinting; glycogen storage disease type III; severe growth retardation; uniparental isodisomy PMID: 30916492 DOI:10.1002/mgg3.634 Free full text
118. Circ Genom Precis Med. 2019 Mar;12(3):e002395. doi: 10.1161/CIRCGEN.118.002395. Delayed Diagnosis of Danon Disease in Patients Presenting With Isolated Cardiomyopathy. Demirdas S1,2, van Slegtenhorst MA1,2, Verdijk RM3, Lee M2,4,5, van den Hout HMP4,5, Wessels MW1,2, Frohn-Mulder IME6, Gardeitchik T7, van der Ploeg AT4,5, Schaaf GJ2,4,5. 1Department of Clinical Genetics (S.D., M.A.v.S., M.W.W.), Sophia Children's Hospital, Erasmus Medical Centre, Erasmus University, Rotterdam, the Netherlands. 2Department of Clinical Genetics (S.D., M.A. v. S, M.L., M.W.W., G.J.S.), Sophia Children's Hospital, Erasmus Medical Centre, Erasmus University, Rotterdam, the Netherlands. 3Department of Pathology (R.M.V.), Sophia Children's Hospital, Erasmus Medical Centre, Erasmus University, Rotterdam, the Netherlands. 4Department of Pediatrics (M.L., H.M.P.v.d.H., A.T.v.d.P., G.J.S.), Sophia Children's Hospital, Erasmus Medical Centre, Erasmus University, Rotterdam, the Netherlands. 5Center for Lysosomal and Metabolic Diseases (M.L., H.M.P.v.d.H., A.T.v.d.P., G.J.S.), Sophia Children's Hospital, Erasmus Medical Centre, Erasmus University, Rotterdam, the Netherlands. 6Division of Cardiology, Department of Pediatrics (I.M.E.F.-M.), Sophia Children's Hospital, Erasmus Medical Centre, Erasmus University, Rotterdam, the Netherlands. 7Department of Human Genetics, Radboud University Medical Centre, Nijmegen, the Netherlands (T.J.). KEYWORDS: biological variation, population; cardiomyopathy, hypertrophic; death, sudden, cardiac; genetic testing; glycogen storage disease type IIb; lysosomal storage diseases; pathology, molecular PMID: 30919683 DOI:10.1161/CIRCGEN.118.002395
119. CEN Case Rep. 2019 Mar 21. doi: 10.1007/s13730-019-00392-6. [Epub ahead of print] Novel Asp511Thr mutation in McArdle disease with acute kidney injury caused by rhabdomyolysis. Satoh A1,2, Hirashio S1,2, Arima T2, Yamada Y1,2, Irifuku T2, Ishibashi H3, Motoda A3, Sueda Y3, Masaki T4. 1Department of Nephrology, Hiroshima University Hospital, 1-2-3 Kasumi, Minami-ku, Hiroshima, 7348551, Japan. 2Department of Nephrology, National Hospital Organization Higashi-Hiroshima Medical Center, Hiroshima, Japan. 3Department of Neurology, National Hospital Organization Higashi-Hiroshima Medical Center, Hiroshima, Japan. 4Department of Nephrology, Hiroshima University Hospital, 1-2-3 Kasumi, Minami-ku, Hiroshima, 7348551, Japan. [email protected]. KEYWORDS: Acute kidney injury; Glycogen storage disease type V; Hypercreatine phosphokinase; McArdle disease; Rhabdomyolysis PMID: 30900170 DOI: 10.1007/s13730-019-00392-6 Free full text
120. Sci Rep. 2019 Mar 26;9(1):5116. doi: 10.1038/s41598-019-41414-8. Low survival rate and muscle fiber-dependent aging effects in the McArdle disease mouse model. Real-Martinez A1, Brull A2, Huerta J1, Tarrasó G1, Lucia A3,4,5, Martin MA4,5, Arenas J4,5, Andreu AL1,5, Nogales-Gadea G5,6, Vissing J7, Krag TO7, de Luna N5,8, Pinós T9,10. 1Mitochondrial and Neuromuscular Disorders Unit, Vall d'Hebron Institut de Recerca, Universitat Autònoma de Barcelona, Barcelona, Spain. 2Sorbonne Université, INSERM UMRS_974, Center of Research in Myology, 75013, Paris, France. 3Faculty of Sport Sciences, Universidad Europea de Madrid, Madrid, Spain. 4Mitochondrial and Neuromuscular Diseases Laboratory, 12 de Octubre Hospital Research Institute (i+ 12), Madrid, Spain. 5Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain. 6Grup de Recerca en Malalties Neuromusculars i Neuropediàtriques, Department of Neurosciences, Institut d'Investigacio en Ciencies de la Salut Germans Trias i Pujol i Campus Can Ruti, Universitat Autònoma de Barcelona, Badalona, Spain. 7Copenhagen Neuromuscular Center, Department of Neurology, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark. 8Laboratori de Malalties Neuromusculars, Institut de Recerca Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Barcelona, Spain. 9Mitochondrial and Neuromuscular Disorders Unit, Vall d'Hebron Institut de Recerca, Universitat Autònoma de Barcelona, Barcelona, Spain. [email protected]. 10Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain. [email protected].
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PMID: 30914683 PMCID: PMC6435661 DOI:10.1038/s41598-019-41414-8 Free PMC Article
Maladie de Pompe – Pompe disease 121. EBioMedicine. 2019 Mar 25. pii: S2352-3964(19)30193-8. doi: 10.1016/j.ebiom.2019.03.048. [Epub ahead of print] A genetic modifier of symptom onset in Pompe disease. Bergsma AJ1, In 't Groen SLM1, van den Dorpel JJA2, van den Hout HJMP2, van der Beek NAME2, Schoser B3, Toscano A4, Musumeci O4, Bembi B5, Dardis A5, Morrone A6, Tummolo A7, Pasquini E8, van der Ploeg AT2, Pijnappel WWMP9. 1Department of Pediatrics, Erasmus University Medical Center, Rotterdam, Netherlands; Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, Netherlands; Center for Lysosomal and Metabolic Diseases, Erasmus University Medical Center, 3015 GE Rotterdam, Netherlands. 2Department of Pediatrics, Erasmus University Medical Center, Rotterdam, Netherlands; Center for Lysosomal and Metabolic Diseases, Erasmus University Medical Center, 3015 GE Rotterdam, Netherlands. 3Friedrich-Baur-Institute, Department of Neurology, Ludwig-Maximilians-University, Munich, Germany. 4Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy. 5Academic Hospital "Santa Maria della Misericordia", Udine, Italy. 6Neurofarba, University of Florence, Meyer Children's Hospital, Florence, Italy. 7Giovanni XXIII Children's Hospital, Bari, Italy. 8Meyer Children's Hospital, Florence, Italy. 9Department of Pediatrics, Erasmus University Medical Center, Rotterdam, Netherlands; Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, Netherlands; Center for Lysosomal and Metabolic Diseases, Erasmus University Medical Center, 3015 GE Rotterdam, Netherlands. Electronic address: [email protected]. KEYWORDS: Lysosomal storage disease; Modifying factor; Pompe disease; Pre-mRNA splicing; c.510C>T PMID: 30922962 DOI:10.1016/j.ebiom.2019.03.048 Free full text
122. Orphanet J Rare Dis. 2019 Mar 22;14(1):71. doi: 10.1186/s13023-019-1039-z. Effects of immunomodulation in classic infantile Pompe patients with high antibody titers. Poelman E1, Hoogeveen-Westerveld M1, van den Hout JMP1, Bredius RGM2, Lankester AC2, Driessen GJA3, Kamphuis SSM4, Pijnappel WWM1, van der Ploeg AT5. 1Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, P.O. BOX 2060, 3000, CB, Rotterdam, The Netherlands. 2Department of Pediatrics, Leiden Medical University Center, Leiden, The Netherlands. 3Department of Pediatrics, Juliana Children's Hospital, The Hague, The Netherlands. 4Department of Pediatric Rheumatology, Erasmus MC University Medical Center, Rotterdam, The Netherlands. 5Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, P.O. BOX 2060, 3000, CB, Rotterdam, The Netherlands. [email protected]. KEYWORDS: Antibodies; Bortezomib; Cross-reactive immunologic material (CRIM); ERT; Immunomodulation; Pompe disease PMID: 30902109 PMCID: PMC6431009 DOI: 10.1186/s13023-019-1039-z Free PMC Article
123. Adv Ther. 2019 Mar 16. doi: 10.1007/s12325-019-00926-5. [Epub ahead of print] Assessing the Role of Anti rh-GAA in Modulating Response to ERT in a Late-Onset Pompe Disease Cohort from the Italian GSDII Study Group. Filosto M1, Cotti Piccinelli S2, Ravaglia S3, Servidei S4, Moggio M5, Musumeci O6, Donati MA7, Pegoraro E8, Di Muzio A9, Maggi L10, Tonin P11, Marrosu G12, Sancricca C4, Lerario A5, Sacchini M7, Semplicini C8, Bozzoni V8, Telese R9, Bonanno S10, Piras R12, Maioli MA12, Ricci G13, Vercelli L14, Galvagni A2, Gallo Cassarino S2, Caria F2, Mongini T14, Siciliano G13, Padovani A2, Toscano A6. 1Center for Neuromuscular Diseases, Unit of Neurology, ASST Spedali Civili and University of Brescia, Brescia, Italy. [email protected]. 2Center for Neuromuscular Diseases, Unit of Neurology, ASST Spedali Civili and University of Brescia, Brescia, Italy. 3Emergency Neurology, IRCCS Mondino Foundation, Pavia, Italy. 4Institute of Neurology, Catholic University of Sacred Heart, Rome, Italy. 5Neuromuscular and Rare Diseases Unit, Department of Neuroscience, Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico, Milan, Italy. 6Department of Clinical and Experimental Medicine, UOC di Neurologia e Malattie Neuromuscolari, University of Messina, Messina, Italy. 7Metabolic and Neuromuscular Unit, Meyer Children Hospital, University of Florence, Florence, Italy. 8Neuromuscular Center, Department of Neurosciences, University of Padova, Padua, Italy. 9Department of Neuroscience and Imaging, G. d'Annunzio University, Chieti, Italy.
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10Neurology IV, Neuroimmunology and Neuromuscular Diseases Unit, Fondazione IRCCS Istituto Neurologico "Carlo Besta", Milan, Italy. 11Neurological Clinic, University of Verona, Verona, Italy. 12ASL8, Centro Sclerosi Multipla, Cagliari, Italy. 13Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy. 14Department of Neurosciences Rita Levi Montalcini, University of Torino, Turin, Italy. KEYWORDS: Anti rh-GAA antibodies; GSD II; Glycogen storage diseases II; LOPD; Pompe disease PMID: 30879255 DOI: 10.1007/s12325-019-00926-5
124. J Clin Pathol. 2019 Mar 16. pii: jclinpath-2018-205446. doi: 10.1136/jclinpath-2018-205446. [Epub ahead of print] Selective screening of late-onset Pompe disease (LOPD) in patients with non-diagnostic muscle biopsies. Meznaric M1, Fumic K2,3, Leonardis L4. 1Faculty of Medicine, Institute of Anatomy, University of Ljubljana, Ljubljana, Slovenia [email protected]. 2Department of Laboratory Diagnostics, Division for Laboratory Diagnostics of Inborn Errors of Metabolism, University Hospital Center Zagreb, Zagreb, Croatia. 3Faculty of Pharmacy and Biochemistry, University of Zagreb, Zagreb, Croatia. 4Division of Neurology, Institute of Clinical Neurophysiology, University Medical Centre Ljubljana, Ljubljana, Slovenia. KEYWORDS: diagnostic screening; enzymes; inherited pathology; muscle; neuromuscular PMID: 30878973 DOI:10.1136/jclinpath-2018-205446
125. J Pharm Biomed Anal. 2019 May 30;169:188-195. doi: 10.1016/j.jpba.2019.03.013. Epub 2019 Mar 7. Seventeen O-acetylated N-glycans and six O-acetylation sites of Myozyme identified using liquid chromatography-tandem mass spectrometry. Park H1, You S1, Kim J1, Kim W1, Do J1, Jang Y1, Kim D1, Lee J1, Ha J1, Oh DB2, Kim JI3, Kim HH4. 1Biotherapeutics and Glycomics Laboratory, College of Pharmacy, Chung-Ang University, 84 Heukseok-ro, Dongjak-gu, Seoul 06944, South Korea. 2Korea Research Institute of Bioscience & Biotechnology, 125 Gwahak-ro, Yuseong-gu, Daejeon 34141, South Korea. 3School of Life Sciences, Gwangju Institute of Science and Technology, 123 Cheomdangwagi-ro, Buk-gu, Gwangju 61005, South Korea. 4Biotherapeutics and Glycomics Laboratory, College of Pharmacy, Chung-Ang University, 84 Heukseok-ro, Dongjak-gu, Seoul 06944, South Korea. Electronic address: [email protected]. KEYWORDS: Glycopeptide; LC-ESI-HCD-MS/MS; Myozyme; N-glycan; O-acetylated sialic acid; O-acetylation site PMID: 30877930 DOI:10.1016/j.jpba.2019.03.013
Myopathies mitochondriales – Mitochondrial myopathies 126. Acta Diabetol. 2019 Mar 29. doi: 10.1007/s00592-019-01302-z. [Epub ahead of print] Therapeutic options in a patient with MELAS and diabetes mellitus: follow-up after 6 months of treatment. Cosentino C1, Contento M2, Paganini M3, Mannucci E4, Cresci B4. 1Diabetology, Azienda Ospedaliero-Universitaria Careggi and University of Florence, Florence, Italy. [email protected]. 2Department of Neurosciences, Drug Research, and Child's Health, University of Florence, Florence, Italy. 3Division Neurology 2, Careggi University Hospital, University of Florence, Florence, Italy. 4Diabetology, Azienda Ospedaliero-Universitaria Careggi and University of Florence, Florence, Italy. KEYWORDS: DPPIV inhibitors; Diabetes; MELAS PMID: 30927106 DOI:10.1007/s00592-019-01302-z
127. J Neurol. 2019 Mar 19. doi: 10.1007/s00415-019-09283-3. [Epub ahead of print] A cluster of disseminated small cortical lesions in MELAS: its distinctive clinical and neuroimaging features. Hongo Y1, Kaneko J1, Suga H1, Ishima D1, Kitamura E1, Akutsu T1, Onozawa Y2, Kanazawa N1, Goto T3, Nishiyama K1, Iizuka T4. 1Department of Neurology, Kitasato University School of Medicine, 1-15-1 Kitasato, Minami-ku, Sagamihara, Kanagawa, 252-0374, Japan. 2Department of Clinical Laboratory, Kitasato University Hospital, Sagamihara, Japan. 3Department of Neurology, Kanagawa Children's Medical Center, Yokohama, Japan.
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4Department of Neurology, Kitasato University School of Medicine, 1-15-1 Kitasato, Minami-ku, Sagamihara, Kanagawa, 252-0374, Japan. [email protected]. KEYWORDS: Brain MRI; Cerebral blood flow; Diversity; MELAS; Stroke-like episodes PMID: 30888501 DOI:10.1007/s00415-019-09283-3
128. Yonsei Med J. 2019 Apr;60(4):399-400. doi: 10.3349/ymj.2019.60.4.399. Genetic Data Are a Prerequisite for Interpreting Clinical and Muscle Biopsy Findings in MELAS. Finsterer J1. 1Krankenanstalt Rudolfstiftung, Messerlin Institute, Veterinary University of Vienna, Vienna, Austria. [email protected]. PMID: 30900428 DOI:10.3349/ymj.2019.60.4.399 Free PMC Article
129. Yonsei Med J. 2019 Apr;60(4):401. doi: 10.3349/ymj.2019.60.4.401. The Author Reply: Genetic Data Are a Prerequisite for Interpreting Clinical and Muscle Biopsy Findings in MELAS. Lee YM1. 1Department of Pediatrics, Gangnam Severance Hospital, Severance Children's Hospital, Yonsei University College of Medicine, Seoul, Korea. [email protected]. PMID: 30900429 DOI:10.3349/ymj.2019.60.4.401 Free PMC Article
130. Doc Ophthalmol. 2019 Mar 28. doi: 10.1007/s10633-019-09690-x. [Epub ahead of print] Diagnosing MELAS requires not only an mtDNA variant but also an appropriate phenotype. Finsterer J1, Zarrouk-Mahjoub S2. 1Krankenanstalt Rudolfstiftung, Postfach 20, 1180, Vienna, Austria. [email protected]. 2Pasteur Institute of Tunis, University of Tunis El Manar and Genomics Platform, Tunis, Tunisia. PMID: 30924003 DOI:10.1007/s10633-019-09690-x
131. Acta Ophthalmol. 2019 Mar 29. doi: 10.1111/aos.14095. [Epub ahead of print] The combination of whole-exome sequencing and clinical analysis allows better diagnosis of rare syndromic retinal dystrophies. Abu Diab A1, AlTalbishi A2, Rosin B1, Kanaan M3, Kamal L3, Swaroop A4, Chowers I1, Banin E1, Sharon D1, Khateb S1. 1Department of Ophthalmology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel. 2St John Eye Hospital, Jerusalem, Israel. 3Hereditary Research Lab, Bethlehem University, Jerusalem, Israel. 4Neurobiology-Neurodegeneration & Repair Laboratory, National Eye Institute, National Institutes of Health, Bethesda, Maryland, USA. KEYWORDS: inherited rare disease; precise clinical diagnosis; syndromic retinal disease; whole-exome sequencing PMID: 30925032 DOI:10.1111/aos.14095
132. J Cachexia Sarcopenia Muscle. 2019 Feb;10(1):218-225. doi: 10.1002/jcsm.12408. Recent developments in the field of cachexia, sarcopenia, and muscle wasting: highlights from the 11th Cachexia Conference. Ebner N1,2, Anker SD3,4,5, von Haehling S1,2. 1Department of Cardiology and Pneumology, University of Göttingen Medical Center, Göttingen, Germany. 2German Center for Cardiovascular Research (DZHK), partner site Göttingen, Göttingen, Germany. 3Division of Cardiology and Metabolism, Department of Cardiology (CVK), Charité, Berlin, Germany. 4Berlin-Brandenburg Center for Regenerative Therapies (BCRT), Berlin, Germany. 5DZHK (German Centre for Cardiovascular Research), partner site Berlin, Charité, Berlin, Germany. KEYWORDS: Cachexia; Muscle wasting; Sarcopenia PMID: 30920774 DOI: 10.1002/jcsm.12408 Free full text
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133. Chin Med J (Engl). 2019 Apr 5;132(7):865-867. doi: 10.1097/CM9.0000000000000151. Broadening the phenotype of m.5703G>A mutation in mitochondrial tRNAAsn gene from mitochondrial myopathy to myoclonic epilepsy with ragged red fibers syndrome. Fu J1, Ma MM, Pang M, Yang L, Li G, Song J, Zhang JW. 1Department of Neurology, Henan Provincial People's Hospital, Zhengzhou, Henan 450003, China. PMID: 30897601 DOI:10.1097/CM9.0000000000000151
134. Acta Neuropathol. 2019 Mar 14. doi: 10.1007/s00401-019-01989-y. [Epub ahead of print] ALS/FTD mutant CHCHD10 mice reveal a tissue-specific toxic gain-of-function and mitochondrial stress response. Anderson CJ1, Bredvik K1, Burstein SR1, Davis C2, Meadows SM1,3, Dash J1, Case L2, Milner TA1,4, Kawamata H1, Zuberi A2, Piersigilli A5, Lutz C2, Manfredi G6. 1Feil Family Brain and Mind Research Institute, Weill Cornell Medicine, 407 East 61st Street, New York, NY, 10065, USA. 2The Rare and Orphan Disease Center, JAX Center for Precision Genetics, 600 Main Street, Bar Harbor, ME, 04609, USA. 3Neuroscience Graduate Program, Weill Cornell Graduate School of Medical Sciences, 1300 York Ave, New York, NY, 10065, USA. 4Harold and Margaret Milliken Hatch Laboratory of Neuroendocrinology, The Rockefeller University, New York, USA. 5Tri-Institutional Laboratory of Comparative Pathology, Memorial Sloan Kettering Cancer Center, Weill Cornell Medicine, and The Rockefeller University, New York, NY, 10065, USA. 6Feil Family Brain and Mind Research Institute, Weill Cornell Medicine, 407 East 61st Street, New York, NY, 10065, USA. [email protected]. KEYWORDS: ALS; CHCHD10; CHCHD2; FTD; Knock-in mice; Mitochondrial integrated stress response; Mitochondrial myopathy; Neurodegeneration; Protein aggregation PMID: 30877432 DOI:10.1007/s00401-019-01989-y
135. Acta Neuropathol. 2019 Mar 14. doi: 10.1007/s00401-019-01988-z. [Epub ahead of print] Mitochondrial defect in muscle precedes neuromuscular junction degeneration and motor neuron death in CHCHD10S59L/+ mouse. Genin EC1, Madji Hounoum B2, Bannwarth S1, Fragaki K1, Lacas-Gervais S3, Mauri-Crouzet A1, Lespinasse F1, Neveu J1, Ropert B1, Augé G1, Cochaud C1, Lefebvre-Omar C4, Bigou S4, Chiot A4, Mochel F4,5, Boillée S4, Lobsiger CS4, Bohl D4, Ricci JE2, Paquis-Flucklinger V6. 1Inserm U1081, CNRS UMR7284, IRCAN, CHU de Nice, Medicine School, Université Côte d'Azur, 28 av de Valombrose, 06107, Nice Cedex 2, France. 2Inserm U1065, C3M, Université Côte d'Azur, Nice, France. 3Centre Commun de Microscopie Appliquée, Université Côte d'Azur, Nice, France. 4Institut du Cerveau et de la Moelle Epinière, ICM, Inserm, U1127, CNRS UMR7225, Sorbonne Universités, 75013, Paris, France. 5Department of Genetics and Reference Centre for Adult Neurometabolic Diseases, AP-HP, La Pitié-Salpêtriere University Hospital, Paris, France. 6Inserm U1081, CNRS UMR7284, IRCAN, CHU de Nice, Medicine School, Université Côte d'Azur, 28 av de Valombrose, 06107, Nice Cedex 2, France. [email protected]. KEYWORDS: ALS; CHCHD10; Mitochondrial disorder; Mouse model; iPSC PMID: 30874923 DOI: 10.1007/s00401-019-01988-z
136. Front Neurol. 2019 Feb 27;10:160. doi: 10.3389/fneur.2019.00160. eCollection 2019. Lipomatosis Incidence and Characteristics in an Italian Cohort of Mitochondrial Patients. Musumeci O1, Barca E2, Lamperti C3, Servidei S4, Comi GP5, Moggio M6, Mongini T7, Siciliano G8, Filosto M9, Pegoraro E10, Primiano G4, Ronchi D5, Vercelli L7, Orsucci D8, Bello L10, Zeviani M11, Mancuso M8, Toscano A1. 1Department of Clinical and Experimental Medicine, UOC Neurologia e Malattie Neuromuscolari, University of Messina, Messina, Italy. 2Department of Neurology, Columbia University Medical Center, New York, NY, United States. 3UO of Medical Genetics and Neurogenetics, The Foundation "Carlo Besta" Institute of Neurology-IRCCS, Milan, Italy. 4UOC Neurofisiopatologia, Fondazione Policlinico Universitario A. Gemelli IRCCS, Istituto di Neurologia Università Cattolica del Sacro Cuore, Rome, Italy. 5Neurology Unit, Neuroscience Section, Department of Pathophysiology and Transplantation, Dino Ferrari Centre, IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, University of Milan, Milan, Italy. 6Neuromuscular and Rare Diseases Unit, Department of Neuroscience, Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico, Milan, Italy.
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7Department of Neurosciences Rita Levi Montalcini, University of Torino, Torino, Italy. 8Department of Clinical and Experimental Medicine, Neurological Institute, University of Pisa, Pisa, Italy. 9Unit of Neurology, Center for Neuromuscular Diseases, ASST Spedali Civili and University of Brescia, Brescia, Italy. 10Department of Neurosciences, University of Padova, Padova, Italy. 11Mitochondrial Biology Unit, Medical Research Council, Cambridge, United Kingdom. KEYWORDS: MERRF; brown fat; madelung's disease; mitochondrial myopathy; multiple symmetrical lipomatosis PMID: 30873109 PMCID:PMC6402385 10.3389/fneur.2019.00160Free PMC Article
Myopathies myofibrillaires – Myofibrillar myopathies 137. J Neurol Sci. 2019 Mar 20;400:110-112. doi: 10.1016/j.jns.2019.03.017. [Epub ahead of print] Motor unit potential changes in myofibrillar myopathy. Anagnostou E1, Vasilakou I2, Papadopoulos C3, Zambelis T2, Papadimas G3. 1Laboratory of Clinical Neurophysiology, Department of Neurology, University of Athens, Eginition Hospital, Athens, Greece. Electronic address: [email protected]. 2Laboratory of Clinical Neurophysiology, Department of Neurology, University of Athens, Eginition Hospital, Athens, Greece. 3Laboratory of Myopathology, Department of Neurology, University of Athens, Eginition Hospital, Athens, Greece. KEYWORDS: Biopsy; Motor unit potentials; Myofibrillar myopathy; Needle EMG; Quantitative EMG PMID: 30913523 DOI:10.1016/j.jns.2019.03.017
Titinopathies – Titinopathies 138. J Muscle Res Cell Motil. 2019 Mar 21. doi: 10.1007/s10974-019-09508-y. [Epub ahead of print] A mechanical model of the half-sarcomere which includes the contribution of titin. Pertici I1, Caremani M1, Reconditi M2. 1PhysioLab, University of Florence, Via Sansone, 1 - 50019, Sesto Fiorentino, Italy. 2PhysioLab, University of Florence, Via Sansone, 1 - 50019, Sesto Fiorentino, Italy. [email protected]. KEYWORDS: Cross-bridges stiffness; Half-sarcomere compliance; Myofilaments; Titin PMID: 30900059 DOI:10.1007/s10974-019-09508-y
Syndromes myasthéniques congénitaux – Congenital myasthenic syndrome 139. Front Pharmacol. 2019 Mar 12;10:259. doi: 10.3389/fphar.2019.00259. eCollection 2019. Compound Heterozygous CHAT Gene Mutations of a Large Deletion and a Missense Variant in a Chinese Patient With Severe Congenital Myasthenic Syndrome With Episodic Apnea. Liu Z1, Zhang L2,3, Shen D1, Ding C1, Yang X1, Zhang W1, Li J1, Deng J1, Gong S1, Liu J4, Qian S4, Fang F1. 1Department of Neurology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China. 2Center for Bioinformatics and Computational Biology, Institute of Biomedical Sciences, School of Life Sciences, East China Normal University, Shanghai, China. 3School of Statistics, Faculty of Economics and Management, East China Normal University, Shanghai, China. 4Department of Pediatric Intensive Care Unit, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China. KEYWORDS: CHAT; congenital myasthenic syndromes; episodic apnea; large deletion; severe PMID: 30914958 PMCID:PMC6422987 DOI:10.3389/fphar.2019.00259 Free PMC Article
140. Neuromuscul Disord. 2019 Feb 19. pii: S0960-8966(18)31217-3. [Epub ahead of print] Cardiac autonomic function evaluation in pediatric and adult patients with congenital myasthenic syndromes. Günbey C1, Sel K2, Temuçin ÇM3, Aykan HH2, Konuşkan B4, Karagöz T2, Anlar B4. 1Department of Pediatric Neurology, Diyarbakır Children's Hospital, Diyarbakır, Turkey. Electronic address: [email protected]. 2Department of Pediatric Cardiology, Hacettepe University Faculty of Medicine, Ankara, Turkey. 3Department of Neurology, Hacettepe University Faculty of Medicine, Ankara, Turkey. 4Department of Pediatric Neurology, Hacettepe University Faculty of Medicine, Ankara, Turkey. KEYWORDS: Autonomic functions; Congenital myasthenic syndromes; Heart rate variability PMID: 30898524 DOI:10.1016/j.nmd.2019.02.004
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Dystrophies musculaires (plusieurs pathologies) – Muscular dystrophies (Multiple) 141. Circ Heart Fail. 2019 Apr;12(4):e005873. doi: 10.1161/CIRCHEARTFAILURE.119.005873. RevAMP(K)ing Mitochondria for Sarcoglycanopathy Therapeutics. Hammers DW1. 1Department of Pharmacology and Therapeutics, Myology Institute, University of Florida College of Medicine, Gainesville. KEYWORDS: Editorials; cardiomyopathies; dystrophin; muscular dystrophies; mutation; sarcoglycanopathies PMID: 30922065 DOI:10.1161/CIRCHEARTFAILURE.119.005873
142. Curr Opin Pharmacol. 2019 Mar 19;47:40-45. doi: 10.1016/j.coph.2019.02.003. [Epub ahead of print] P2X7 purinoceptor as a therapeutic target in muscular dystrophies. Górecki DC1. 1School of Pharmacy and Biomedical Sciences, University of Portsmouth, UK; Military Institute of Hygiene and Epidemiology, Warsaw, Poland. Electronic address: [email protected]. PMID: 30901735 DOI:10.1016/j.coph.2019.02.003
Maladies neuromusculaires (plusieurs pathologies) – Neuromuscular diseases (Multiple) 143. Minerva Cardioangiol. 2019 Mar 27. doi: 10.23736/S0026-4725.19.04908-9. [Epub ahead of print] Prognostic role of Pro-BNP levels in left ventricular hypertrabeculation/noncompaction and neuromuscular disorders: results of a pilot study. Malli N1, Wilfinger-Lutz N1, Krugluger W2, Stöllberger C3, Winkler-Dworak M4, Finsterer J5. 12nd Medical Deptartment, KA Rudolfstiftung, Vienna, Austria. 2Central Laboratory, KA Rudolfstiftung, Vienna, Austria. 32nd Medical Deptartment, KA Rudolfstiftung, Vienna, Austria - [email protected]. 4Vienna Institute of Demography of the Austrian Academy of Sciences, Vienna, Austria. 5KA Rudolfstiftung, Vienna, Austria. PMID: 30919605 DOI:10.23736/S0026-4725.19.04908-9
144. Clin Genet. 2019 Mar 28. doi: 10.1111/cge.13544. [Epub ahead of print] Autosomal recessive limb-girdle and Miyoshi muscular dystrophies in the Netherlands: the clinical and molecular spectrum of 244 patients. Ten Dam L1, Frankhuizen WS2, Linssen WHJP3, Straathof CS4, Niks EH4, Faber CG5, Fock JM6, Kuks JB6, Brusse E7, de Coo IF7, Voermans N8, Verrips A9, Hoogendijk JE10, van der Pol WL10, Westra D11, de Visser M1, van der Kooi AJ1, Ginjaar HB2. 1Department of Neurology, Amsterdam University Medical Centre, Amsterdam Neuroscience, Amsterdam, The Netherlands. 2Department of Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands. 3Department of Neurology, OLVG-West hospital, Amsterdam, The Netherlands. 4Department of Neurology, Leiden University Medical Centre, Leiden, The Netherlands. 5Department of Neurology, Maastricht University Medical Centre, Maastricht, The Netherlands. 6Department of Neurology, University Medical Centre Groningen, Groningen, The Netherlands. 7Department of Neurology, Erasmus MC University Medical Centre, Rotterdam, The Netherlands. 8Department of Neurology, Radboud University Medical Centre, Nijmegen, The Netherlands. 9Department of Neurology, Canisius Wilhelmina Hospital Nijmegen, Nijmegen, The Netherlands. 10Department of Neurology, Rudolf Magnus Institute of Neuroscience, University Medical Center, Utrecht, The Netherlands. 11Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands. KEYWORDS: Miyoshi muscular dystrophy; limb girdle muscular dystrophy; neurology; neuromuscular disorders PMID: 30919934 DOI:10.1111/cge.13544
145. Chin Med J (Engl). 2019 Apr 5;132(7):805-810. doi: 10.1097/CM9.0000000000000144. Activated mTOR signaling pathway in myofibers with inherited metabolic defect might be an evidence for mTOR inhibition therapies. Lyu JW1,2, Xu XB1,2, Ji KQ1,2, Zhang N1,2, Sun Y3,4, Zhao DD1,2, Zhao YY1,2, Yan CZ1,2,3,4. 1Institute of Neuromuscular and Neurodegenerative Diseases. 2Brain Science Research Institute, Shandong University, Jinan, Shandong 250012, China. 3Department of Neurology, Qilu Hospital (Qingdao), Shandong University, Qingdao, Shandong 266035, China. 4Mitochondrial Medicine Laboratory, Qilu Hospital (Qingdao), Shandong University, Qingdao, Shandong 266035, China. PMID: 30897595 DOI:10.1097/CM9.0000000000000144
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146. Nucleic Acids Res. 2019 Mar 27. pii: gkz197. doi: 10.1093/nar/gkz197. [Epub ahead of print] NMR solution structure of tricyclo-DNA containing duplexes: insight into enhanced thermal stability and nuclease resistance. Istrate A1, Johannsen S2, Istrate A1, Sigel RKO2, Leumann CJ1. 1Department of Chemistry and Biochemistry, University of Bern, Freiestrasse 3, Bern CH-3012, Switzerland. 2Department of Chemistry, Winterthurerstrasse 190, University of Zürich, Zürich CH-8057, Switzerland. PMID: 30916334 DOI:10.1093/nar/gkz197
147. Sci Rep. 2019 Mar 27;9(1):5284. doi: 10.1038/s41598-019-41730-z. Cytometric cell-based assays for anti-striational antibodies in myasthenia gravis with myositis and/or myocarditis. Kufukihara K1, Watanabe Y1, Inagaki T1, Takamatsu K2, Nakane S2,3, Nakahara J1, Ando Y2, Suzuki S4. 1Department of Neurology, Keio University School of Medicine, 35 Shinanomachi, Shinjuku-ku, Tokyo, 160-8582, Japan. 2Department of Neurology, Graduate School of Medical Sciences, Faculty of Life Sciences, Kumamoto University, 1-1-1 Honjo, Chuo-ku, Kumamoto, 860-8556, Japan. 3Department of Molecular Neurology and Therapeutics, Kumamoto University Hospital, 1-1-1 Honjo, Chuo-ku, Kumamoto, 860-8556, Japan. 4Department of Neurology, Keio University School of Medicine, 35 Shinanomachi, Shinjuku-ku, Tokyo, 160-8582, Japan. [email protected]. PMID: 30918333 DOI:10.1038/s41598-019-41730-z Free full text
148. PLoS One. 2019 Mar 26;14(3):e0210574. doi: 10.1371/journal.pone.0210574. eCollection 2019. Trends in incidence, prevalence, and mortality of neuromuscular disease in Ontario, Canada: A population-based retrospective cohort study (2003-2014). Rose L1,2,3,4, McKim D5,6, Leasa D7,8, Nonoyama M9,10,11, Tandon A12,13, Bai YQ14, Amin R10,13, Katz S15,6, Goldstein R13,16, Gershon A4,12,13. 1Department of Critical Care, Sunnybrook Health Sciences Centre and Sunnybrook Research Institute, Toronto, Canada. 2Florence Nightingale Faculty of Nursing, Midwifery and Palliative Care, King's College London, London, United Kingdom. 3Lawrence S. Bloomberg Faculty of Nursing, University of Toronto, Toronto, Canada. 4Institute of Clinical Evaluative Sciences, Toronto, Canada. 5The Ottawa Hospital Respiratory Rehabilitation and The Ottawa Hospital Sleep Centre and Ottawa Hospital Research Institute, Ottawa, Canada. 6Faculty of Medicine, University of Ottawa, Ottawa, Canada. 7Department of Medicine, Divisions of Critical Care and Respirology, London Health Sciences Centre, London, Canada. 8Faculty of Medicine, Western University, London, Canada. 9Faculty of Health Sciences, University of Ontario Institute of Technology, Oshawa, Canada. 10Hospital for Sick Children (SickKids) Research Institute, Toronto, Canada. 11Rehabilitation Sciences Institute, University of Toronto, Toronto, Canada. 12Department of Respirology & Clinical Immunology, Sunnybrook Health Sciences Centre and Sunnybrook Research Institute, Toronto, Canada. 13Faculty of Medicine, University of Toronto, Toronto, Canada. 14Institute of Health Policy, Management and Evaluation, University of Toronto, Toronto, Canada. 15Children's Hospital of Eastern Ontario and Children's Hospital of Eastern Ontario Research Institute, Ottawa, Canada. 16West Park Healthcare Centre, Toronto, Canada. PMID: 30913206 DOI:10.1371/journal.pone.0210574 Free full text
149. J Microbiol Immunol Infect. 2019 Mar 8. pii: S1684-1182(18)30099-9. [Epub ahead of print] The microbiological characteristics of lower respiratory tract infection in patients with neuromuscular disorders: An investigation based on a multiplex polymerase chain reaction to detect viruses and a clone library analysis of the bacterial 16S rRNA gene sequence in sputum samples. Ogawa M1, Hoshina T2, Haro K1, Kumadaki T1, Ishii M1, Fujino Y3, Fukuda K4, Kusuhara K1. 1Department of Pediatrics, School of Medicine, University of Occupational and Environmental Health, Japan. 2Department of Pediatrics, School of Medicine, University of Occupational and Environmental Health, Japan. Electronic address: [email protected]. 3Department of Preventive Medicine and Community Health, School of Medicine, University of Occupational and Environmental Health, Japan.
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4Department of Microbiology, School of Medicine, University of Occupational and Environmental Health, Japan. KEYWORDS: 16S rRNA gene; Lower respiratory tract infection; Microbiome in respiratory tract; Neuromuscular disorders; Respiratory viruses PMID: 30898603 DOI:10.1016/j.jmii.2019.01.002 Free full text
150. World J Pediatr. 2019 Mar 23. doi: 10.1007/s12519-019-00242-6. [Epub ahead of print] Progress in treatment and newborn screening for Duchenne muscular dystrophy and spinal muscular atrophy. Ke Q1, Zhao ZY2, Mendell JR3, Baker M4, Wiley V5, Kwon JM6, Alfano LN7, Connolly AM8, Jay C9, Polari H10, Ciafaloni E9, Qi M11, Griggs RC9, Gatheridge MA12. 1Department of Neurology, The First Affiliated Hospital, College of Medicine, Zhejiang University, Hangzhou, Zhejiang, China. 2Children's Hospital, Zhejiang University School of Medicine, Hangzhou, China. 3Department of Pediatrics and Neurology, Nationwide Children's Hospital, Columbus, OH, USA. 4Department of Pediatrics, University of Wisconsin School of Medicine and Public Health, Madison, WI, USA. 5Disciplines of Genetic Medicine and Pediatric and Child Health, University of Sydney, Sydney, Australia. 6Department of Neurology, University of Wisconsin School of Medicine and Public Health, Madison, WI, USA. 7Department of Pediatrics, Nationwide Children's Hospital, Columbus, OH, USA. 8Department of Neurology, Washington University School of Medicine, St. Louis, MO, USA. 9Department of Neurology, University of Rochester School of Medicine and Dentistry, Rochester, NY, USA. 10PerkinElmer Inc, Turku, Finland. 11Department of Clinical Laboratory, Zhejiang University School of Medicine, Hangzhou, China. 12Department of Neurology, University of Rochester School of Medicine and Dentistry, 601 Elmwood Ave, Box 673, Rochester, NY, 14642, USA. [email protected]. KEYWORDS: Duchene muscular dystrophy; Neurology; Neuromuscular disorders; Newborn screening; Spinal muscular atrophy PMID: 30904991 DOI: 10.1007/s12519-019-00242-6
Divers – Miscellaneous 151. J Cachexia Sarcopenia Muscle. 2019 Mar 20. doi: 10.1002/jcsm.12409. [Epub ahead of print] Fibroblast growth factor 21 controls mitophagy and muscle mass. Oost LJ1,2, Kustermann M1,3, Armani A1,4, Blaauw B1,4,5, Romanello V1,4,5. 1Venetian Institute of Molecular Medicine, Via Orus 2, 35129, Padova, Italy. 2Minderbroedersberg, 4-66211, Maastricht, LK, The Netherlands. 3Molecular Cardiology, Department of Internal Medicine II, University of Ulm, Albert-Einstein-Allee 23, 89081, Ulm, Germany. 4Department of Biomedical Sciences, University of Padova, Via Ugo Bassi, 58/B35131, Padova, Italy. 5Myology Center, Department of Biomedical Science, University of Padova, Via Ugo Bassi, 58/B35131, Padova, Italy. KEYWORDS: Autophagy; Bnip3; FGF21; Mitophagy; Muscle atrophy; Myokine PMID: 30895728 DOI:10.1002/jcsm.12409 Free full text
152. Otolaryngol Head Neck Surg. 2019 Feb;160(2):187-205. doi: 10.1177/0194599818807917. Clinical Practice Guideline: Tonsillectomy in Children (Update)-Executive Summary. Mitchell RB1, Archer SM2, Ishman SL3, Rosenfeld RM4, Coles S5, Finestone SA6, Friedman NR7, Giordano T8, Hildrew DM9, Kim TW10, Lloyd RM11, Parikh SR12, Shulman ST13, Walner DL14, Walsh SA6, Nnacheta LC15. 1 UT Southwestern Medical Center, Dallas, Texas, USA. 2 University of Kentucky, Lexington, Kentucky, USA. 3 Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA. 4 SUNY Downstate Medical Center, Brooklyn, New York, USA. 5 University of Arizona College of Medicine, Phoenix, Arizona, USA. 6 Consumers United for Evidence-based Healthcare, Fredericton, New Brunswick, Canada. 7 Children's Hospital Colorado, Aurora, Colorado, USA. 8 Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA. 9 Yale School of Medicine, New Haven, Connecticut, USA. 10 University of Minnesota School of Medicine, Minneapolis, Minnesota, USA. 11 Mayo Clinic Center for Sleep Medicine, Rochester, Minnesota, USA. 12 Seattle Children's Hospital, Seattle, Washington, USA. 13 Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA. 14 Advocate Children's Hospital, Park Ridge, Illinois, USA.
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15 Department of Research and Quality, American Academy of Otolaryngology-Head and Neck Surgery Foundation, Alexandria, Virginia, USA. PMID: 30921525 DOI:10.1177/0194599818807917
153. Eur Rev Med Pharmacol Sci. 2019 Mar;23(1 Suppl):15-18. doi: 10.26355/eurrev_201903_17342. Obstructive sleep apnea syndrome in the pediatric age: the role of the pneumologist. Toraldo DM1, Di Michele L, Ralli M, Arigliani M, Passali GC, De Benedetto M, Passali D. 1Department of Rehabilitation, Cardiorespiratory Rehabilitation Unit, Vito Fazzi Hospital, ASL Lecce, Lecce, Italy. [email protected]. PMID: 30920630 DOI:10.26355/eurrev_201903_17342
154. Hum Reprod Open. 2018 May 16;2018(3):hoy008. doi: 10.1093/hropen/hoy008. eCollection 2018. Reasons for being in favour of or against genome modification: a survey of the Dutch general public. Hendriks S1,2, Giesbertz NAA3,4, Bredenoord AL3, Repping S2. 1Department of Bioethics, Clinical Center, National Institutes of Health, USA. 2Center for Reproductive Medicine, Department of Obstetrics and Gynecology, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands. 3Julius Centre, Medical Humanities, University Medical Center Utrecht/Utrecht University Utrecht, The Netherlands. 4Department of Genetics, University Medical Centre Utrecht, Utrecht, The Netherlands. KEYWORDS: CRISPR-Cas systems; ethics; genetic engineering; genome, human; germ cells; healthcare quality, access and evaluation; humans; mutation; reproductive techniques; surveys and questionnaires PMID: 30895249 PMCID:PMC6276646 DOI:10.1093/hropen/hoy008 Free PMC Article
155. Respir Med Case Rep. 2019 Feb 16;26:304-306. doi: 10.1016/j.rmcr.2019.02.012. eCollection 2019. Respiratory dysfunction following initiation of mirabegron: A case report. Malsin ES1, Coleman JM2, Wolfe LF3, Lam AP1. 1Northwestern University Feinberg School of Medicine, Division of Pulmonary and Critical Care Medicine, 240 East Huron Street, McGaw Pavilion, Suite M-349 Chicago, Illinois 60611, USA. 2Northwestern University Feinberg School of Medicine, Division of Pulmonary and Critical Care Medicine, 676 North St. Clair, Arkes Pavilion Suite 1400 Chicago, IL 60611, USA. 3Northwestern University Feinberg School of Medicine, Division of Pulmonary and Critical Care Medicine, 240 East Huron Street, McGaw Pavilion, Suite M-341, Chicago, IL 60611, USA. KEYWORDS: Adverse medication effect; Neuromuscular lung disease; β3 receptor agonist therapy PMID: 30886821 PMCID:PMC6402286 DOI:10.1016/j.rmcr.2019.02.012 Free PMC Article
156. Eur Respir J. 2019 Mar 17. pii: 1802118. doi: 10.1183/13993003.02118-2018. [Epub ahead of print] Randomised controlled trial of polysomnographic titration of non-invasive ventilation. Hannan LM1,2,3, Rautela L4,2,5, Berlowitz DJ4,2,5, McDonald CF4,2,3, Cori JM4, Sheers N4,2,5, Chao C4,2,5, O'Donoghue FJ4,2,3, Howard ME4,2,3. 1Institute for Breathing and Sleep, Austin Health, Melbourne, Victoria, Australia [email protected]. 2Department of Respiratory and Sleep Medicine, Austin Health, Melbourne, Victoria, Australia. 3Department of Medicine, Dentistry and Health Sciences, University of Melbourne, Victoria, Australia. 4Institute for Breathing and Sleep, Austin Health, Melbourne, Victoria, Australia. 5Department of Physiotherapy, University of Melbourne, Melbourne, Victoria, Australia. PMID: 30880286 DOI:10.1183/13993003.02118-2018
157. Front Cell Neurosci. 2019 Feb 27;13:49. doi: 10.3389/fncel.2019.00049. eCollection 2019. A Novel Optical Tissue Clearing Protocol for Mouse Skeletal Muscle to Visualize Endplates in Their Tissue Context. Williams MPI1, Rigon M1, Straka T1,2, Hörner SJ1,2, Thiel M3, Gretz N4,5, Hafner M1,5, Reischl M6, Rudolf R1,2,5,7. 1Institute of Molecular and Cell Biology, Mannheim University of Applied Sciences, Mannheim, Germany. 2Interdisciplinary Center for Neurosciences, Heidelberg University, Heidelberg, Germany. 3Department of Anesthesiology and Surgical Intensive Care Medicine, Medical Faculty Mannheim, Heidelberg University, Mannheim, Germany. 4Medical Faculty Mannheim, Medical Research Center, Heidelberg University, Mannheim, Germany. 5Medical Faculty Mannheim, Institute of Medical Technology, Mannheim University of Applied Sciences, Mannheim, Germany.
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6Institute for Automation and Applied Informatics, Karlsruhe Institute of Technology, Eggenstein-Leopoldshafen, Germany. 7Institute of Toxicology and Genetics, Karlsruhe Institute of Technology, Eggenstein-Leopoldshafen, Germany. KEYWORDS: NMJ; acetylcholine receptor; hydrogel embedding; optical tissue clearing; skeletal muscle PMID: 30873005 PMCID:PMC6401545 DOI:10.3389/fncel.2019.00049 Free PMC Article
158. Cells. 2019 Mar 23;8(3). pii: E280. doi: 10.3390/cells8030280. 2,4 Dinitrophenol as Medicine. Geisler JG1. 1Mitochon Pharmaceuticals, Inc., 970 Cross Lane, Blue Bell, PA 19422, USA. [email protected]. KEYWORDS: 2,4-dinitrophenol (DNP); Brain-derived neurotrophic factor (BDNF); Duchenne Muscular Dystrophy; Huntington’s Disease; Multiple Sclerosis; Traumatic Brain Injury; anti-aging; metabesity; mitochondrial uncoupler; neurodegeneration PMID: 30909602 DOI:10.3390/cells8030280 Free full text
159. Nat Commun. 2019 Mar 25;10(1):1364. doi: 10.1038/s41467-019-08983-8. ZEB1 protects skeletal muscle from damage and is required for its regeneration. Siles L1, Ninfali C1, Cortés M1, Darling DS2, Postigo A3,4,5. 1Group of Transcriptional Regulation of Gene Expression, Department of Oncology and Hematology, IDIBAPS, 08036, Barcelona, Spain. 2Center for Genetics and Molecular Medicine and Department of Immunology and Infectious Diseases, University of Louisville, Louisville, KY, 40202, USA. 3Group of Transcriptional Regulation of Gene Expression, Department of Oncology and Hematology, IDIBAPS, 08036, Barcelona, Spain. [email protected]. 4Molecular Targets Program, James G. Brown Cancer Center, Louisville, KY, 40202, USA. [email protected]. 5ICREA, Barcelona, 08010, Spain. [email protected]. PMID: 30910999 PMCID: PMC6434033DOI: 10.1038/s41467-019-08983-8[Indexed for MEDLINE] Free PMC Article
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Certaines références présentées par maladies sont triées ci-dessous par spécialités. Some of citations presented by diseases are sorted below by specialties.
Anatomopathologie – Anatomical pathology PLoS One. 2019 Mar 22;14(3):e0214254. doi: 10.1371/journal.pone.0214254. eCollection 2019. Aberrant insulin receptor expression is associated with insulin resistance and skeletal muscle atrophy in myotonic dystrophies. Renna LV1, Bosè F1, Brigonzi E2, Fossati B3, Meola G2,3, Cardani R1. 1Laboratory of Muscle Histopathology and Molecular Biology, IRCCS-Policlinico San Donato, San Donato Milanese, Milan, Italy. 2Department of Biomedical Sciences for Health, University of Milan, Milan, Italy. 3Department of Neurology, IRCCS-Policlinico San Donato, San Donato Milanese, Milan, Italy. PMID: 30901379 PMCID:PMC6430513 DOI:10.1371/journal.pone.0214254 Free PMC Article
RMD Open. 2019 Feb 26;5(1):e000811. doi: 10.1136/rmdopen-2018-000811. eCollection 2019. Distinct interferon signatures stratify inflammatory and dysimmune myopathies. Rigolet M1, Hou C1, Baba Amer Y1, Aouizerate J1,2, Periou B1, Gherardi RK1,2, Lafuste P1, Authier FJ1,2. 1IMRB, Inserm U955-Team 10, Paris Est-Creteil University, Paris, France. 2Reference Center for Neuromuscular Diseases, Henri Mondor University Hospitals, Paris, France. KEYWORDS: ISG15; antisynthetase; dermatomyositis; inclusion body myositis; inflammatory myopathy; interferon; major histocompatibility class 2 (MHC-2); necrotising autoimmune myopathies PMID: 30886734 PMCID:PMC6397431DOI:10.1136/rmdopen-2018-000811 Free PMC Article
Yonsei Med J. 2019 Apr;60(4):399-400. doi: 10.3349/ymj.2019.60.4.399. Genetic Data Are a Prerequisite for Interpreting Clinical and Muscle Biopsy Findings in MELAS. Finsterer J1. 1Krankenanstalt Rudolfstiftung, Messerlin Institute, Veterinary University of Vienna, Vienna, Austria. [email protected]. PMID: 30900428 DOI:10.3349/ymj.2019.60.4.399 Free PMC Article
Yonsei Med J. 2019 Apr;60(4):401. doi: 10.3349/ymj.2019.60.4.401. The Author Reply: Genetic Data Are a Prerequisite for Interpreting Clinical and Muscle Biopsy Findings in MELAS. Lee YM1. 1Department of Pediatrics, Gangnam Severance Hospital, Severance Children's Hospital, Yonsei University College of Medicine, Seoul, Korea. [email protected]. PMID: 30900429 DOI:10.3349/ymj.2019.60.4.401 Free PMC Article
Cardiologie – Cardiology Physiol Rep. 2019 Mar;7(6):e14018. doi: 10.14814/phy2.14018. Simvastatin provides long-term improvement of left ventricular function and prevents cardiac fibrosis in muscular dystrophy. Kim MJ1, Bible KL1, Regnier M2, Adams ME1, Froehner SC1, Whitehead NP1. 1Department of Physiology & Biophysics, University of Washington, Seattle, Washington. 2Department of Bioengineering, University of Washington, Seattle, Washington. KEYWORDS: Cardiac function; fibrosis; muscular dystrophy; simvastatin PMID: 30912308 DOI: 10.14814/phy2.14018 Free full text
PLoS One. 2019 Mar 15;14(3):e0213768. doi: 10.1371/journal.pone.0213768. eCollection 2019. The intracellular Ca2+ concentration is elevated in cardiomyocytes differentiated from hiPSCs derived from a Duchenne muscular dystrophy patient. Tsurumi F1, Baba S1, Yoshinaga D1, Umeda K1, Hirata T1, Takita J1, Heike T1.
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1Department of Pediatrics, Graduate School of Medicine Kyoto University, Kyoto City, Japan. PMID: 30875388 PMCID: PMC6420015 DOI: 10.1371/journal.pone.0213768 Free PMC Article
J Neurol. 2019 Mar 14. doi: 10.1007/s00415-019-09267-3. [Epub ahead of print] Congenital myopathies are mainly associated with a mild cardiac phenotype. Petri H1, Wahbi K2, Witting N3, Køber L4, Bundgaard H4, Kamoun E5, Vellieux G5, Stojkovic T5, Béhin A5, Laforet P6,7, Vissing J3. 1Department of Cardiology, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark. [email protected]. 2APHP, Cochin Hospital, Cardiology Department, Centre de Référence de Pathologie, Neuromusculaire Nord/Est/Ile de France, Paris-Descartes, Sorbonne Paris Cité University, 75006, Paris, France. 3Department of Neurology, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark. 4Department of Cardiology, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark. 5Myology Institute, Nord/Est/Ile de France Neuromuscular Center, Pitié-Salpêtière hospital, APHP, Paris, France. 6Neurology Department, Nord/Est/Ile de France Neuromuscular Center, Raymond Poincaré Teaching Hospital, APHP, 92380, Garches, France. 7END-ICAP, INSERM U1179, Université Versailles Saint-Quentin-en-Yvelines, Montigny-le-Bretonneux, France. KEYWORDS: Arrhythmia; Congenital myopathies; Echocardiography; Heart failure PMID: 30874888 DOI:10.1007/s00415-019-09267-3
Rheumatology (Oxford). 2019 Mar 21. pii: kez076. doi: 10.1093/rheumatology/kez076. [Epub ahead of print] Increased risk of coronary heart disease among patients with idiopathic inflammatory myositis: a nationwide population study in Taiwan. Weng MY1, Lai EC2,3, Kao Yang YH2. 1Department of Internal Medicine, Division of Allergy, Immunology, and Rheumatology, National Cheng Kung University Medical College and Hospital, Tainan, Taiwan. 2School of Pharmacy, Institute of Clinical Pharmacy and Pharmaceutical Sciences, College of Medicine, National Cheng Kung University, Tainan, Taiwan. 3Department of Pharmacy, National Cheng Kung University Hospital, Tainan, Taiwan. KEYWORDS: coronary heart disease; dermatomyositis; idiopathic inflammatory myositis; polymyositis PMID: 30903193 DOI: 10.1093/rheumatology/kez076
Neuromuscul Disord. 2019 Feb 19. pii: S0960-8966(18)31217-3. [Epub ahead of print] Cardiac autonomic function evaluation in pediatric and adult patients with congenital myasthenic syndromes. Günbey C1, Sel K2, Temuçin ÇM3, Aykan HH2, Konuşkan B4, Karagöz T2, Anlar B4. 1Department of Pediatric Neurology, Diyarbakır Children's Hospital, Diyarbakır, Turkey. Electronic address: [email protected]. 2Department of Pediatric Cardiology, Hacettepe University Faculty of Medicine, Ankara, Turkey. 3Department of Neurology, Hacettepe University Faculty of Medicine, Ankara, Turkey. 4Department of Pediatric Neurology, Hacettepe University Faculty of Medicine, Ankara, Turkey. KEYWORDS: Autonomic functions; Congenital myasthenic syndromes; Heart rate variability PMID: 30898524 DOI:10.1016/j.nmd.2019.02.004
J Rheumatol. 2019 Mar 15. pii: jrheum.181248. doi: 10.3899/jrheum.181248. [Epub ahead of print] Acute coronary syndrome in idiopathic inflammatory myopathies: a population-based study. Leclair V1, Svensson J1, Lundberg IE1, Holmqvist M1. 1From the Unit of Clinical Epidemiology, Department of Medicine, Solna, Karolinska University Hospital, Karolinska Institutet, Stockholm, Sweden; Division of Rheumatology, Jewish General Hospital, Montreal, Canada, 3Division of Rheumatology, Department of Medicine, Solna, Karolinska Institutet, Karolinska University Hospital, Stockholm, Sweden. Dr Lundberg was supported by grants from the Swedish Research Council, the Swedish Rheumatism Association, King Gustaf V 80 Year Foundation, and the Stockholm County Council (ALF project). Dr Holmqvist was supported by grants from the Swedish Rheumatism Association, the King Gustaf V 60 Year Foundation, the Nanna Svartz Foundation, and the Stockholm County Council (ALF project). Dr Lundberg has received honoraria from Bristol Myers Squibb and MedImmune and is currently receiving a research grant from Bristol Myers Squibb and from Astra Zeneca for projects unrelated to the present manuscript. No reference is made to specific products in our work, nor do we suggest therapeutic choices in our
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Veille Neuromusculaire / Neuromuscular bibliography Bibliographie sur les maladies neuromusculaires / Bibliography on neuromuscular disorders n° 2019-03-3 du 16 au 31 Mars 2019 (Mars 16 to 31, 2019) conclusions. The other authors declare no competing interests. Address correspondence to Valérie Leclair, MD, Karolinska Institutet, Unit of Clinical Epidemiology, Karolinska Hospital T2, SE-17176, Stockholm. PMID: 30877220 DOI:10.3899/jrheum.181248
Circ Genom Precis Med. 2019 Mar;12(3):e002395. doi: 10.1161/CIRCGEN.118.002395. Delayed Diagnosis of Danon Disease in Patients Presenting With Isolated Cardiomyopathy. Demirdas S1,2, van Slegtenhorst MA1,2, Verdijk RM3, Lee M2,4,5, van den Hout HMP4,5, Wessels MW1,2, Frohn-Mulder IME6, Gardeitchik T7, van der Ploeg AT4,5, Schaaf GJ2,4,5. 1Department of Clinical Genetics (S.D., M.A.v.S., M.W.W.), Sophia Children's Hospital, Erasmus Medical Centre, Erasmus University, Rotterdam, the Netherlands. 2Department of Clinical Genetics (S.D., M.A. v. S, M.L., M.W.W., G.J.S.), Sophia Children's Hospital, Erasmus Medical Centre, Erasmus University, Rotterdam, the Netherlands. 3Department of Pathology (R.M.V.), Sophia Children's Hospital, Erasmus Medical Centre, Erasmus University, Rotterdam, the Netherlands. 4Department of Pediatrics (M.L., H.M.P.v.d.H., A.T.v.d.P., G.J.S.), Sophia Children's Hospital, Erasmus Medical Centre, Erasmus University, Rotterdam, the Netherlands. 5Center for Lysosomal and Metabolic Diseases (M.L., H.M.P.v.d.H., A.T.v.d.P., G.J.S.), Sophia Children's Hospital, Erasmus Medical Centre, Erasmus University, Rotterdam, the Netherlands. 6Division of Cardiology, Department of Pediatrics (I.M.E.F.-M.), Sophia Children's Hospital, Erasmus Medical Centre, Erasmus University, Rotterdam, the Netherlands. 7Department of Human Genetics, Radboud University Medical Centre, Nijmegen, the Netherlands (T.J.). KEYWORDS: biological variation, population; cardiomyopathy, hypertrophic; death, sudden, cardiac; genetic testing; glycogen storage disease type IIb; lysosomal storage diseases; pathology, molecular PMID: 30919683 DOI:10.1161/CIRCGEN.118.002395
Circ Heart Fail. 2019 Apr;12(4):e005873. doi: 10.1161/CIRCHEARTFAILURE.119.005873. RevAMP(K)ing Mitochondria for Sarcoglycanopathy Therapeutics. Hammers DW1. 1Department of Pharmacology and Therapeutics, Myology Institute, University of Florida College of Medicine, Gainesville. KEYWORDS: Editorials; cardiomyopathies; dystrophin; muscular dystrophies; mutation; sarcoglycanopathies PMID: 30922065 DOI:10.1161/CIRCHEARTFAILURE.119.005873
Minerva Cardioangiol. 2019 Mar 27. doi: 10.23736/S0026-4725.19.04908-9. [Epub ahead of print] Prognostic role of Pro-BNP levels in left ventricular hypertrabeculation/noncompaction and neuromuscular disorders: results of a pilot study. Malli N1, Wilfinger-Lutz N1, Krugluger W2, Stöllberger C3, Winkler-Dworak M4, Finsterer J5. 12nd Medical Deptartment, KA Rudolfstiftung, Vienna, Austria. 2Central Laboratory, KA Rudolfstiftung, Vienna, Austria. 32nd Medical Deptartment, KA Rudolfstiftung, Vienna, Austria - [email protected]. 4Vienna Institute of Demography of the Austrian Academy of Sciences, Vienna, Austria. 5KA Rudolfstiftung, Vienna, Austria. PMID: 30919605 DOI:10.23736/S0026-4725.19.04908-9
Électromyographie – Electromyography J Neuroeng Rehabil. 2019 Mar 27;16(1):44. doi: 10.1186/s12984-019-0515-y. Don't forget the trunk in Duchenne muscular dystrophy patients: more muscle weakness and compensation than expected. Peeters LHC1, Kingma I2, van Dieën JH2, de Groot IJM3. 1Department of Rehabilitation, Radboud University Medical Center, Donders Centre for Neuroscience, P.O. Box 9101, Nijmegen, HB, 6500, The Netherlands. [email protected]. 2Department of Human Movement Sciences, Faculty of Behavioral and Movement Sciences, Vrije Universiteit Amsterdam, Amsterdam Movement Sciences, Amsterdam, The Netherlands. 3Department of Rehabilitation, Radboud University Medical Center, Donders Centre for Neuroscience, P.O. Box 9101, Nijmegen, HB, 6500, The Netherlands. KEYWORDS: Activities of daily living; Electromyography; Kinematics; Muscular dystrophy; Trunk PMID: 30917845 DOI: 10.1186/s12984-019-0515-y Free full text
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J Neurol Sci. 2019 Mar 20;400:110-112. doi: 10.1016/j.jns.2019.03.017. [Epub ahead of print] Motor unit potential changes in myofibrillar myopathy. Anagnostou E1, Vasilakou I2, Papadopoulos C3, Zambelis T2, Papadimas G3. 1Laboratory of Clinical Neurophysiology, Department of Neurology, University of Athens, Eginition Hospital, Athens, Greece. Electronic address: [email protected]. 2Laboratory of Clinical Neurophysiology, Department of Neurology, University of Athens, Eginition Hospital, Athens, Greece. 3Laboratory of Myopathology, Department of Neurology, University of Athens, Eginition Hospital, Athens, Greece. KEYWORDS: Biopsy; Motor unit potentials; Myofibrillar myopathy; Needle EMG; Quantitative EMG PMID: 30913523 DOI:10.1016/j.jns.2019.03.017
Gastroentérologie / Nutrition – Gastroenterology / Nutrition Z Gastroenterol. 2019 Mar 14. doi: 10.1055/a-0855-4404. [Epub ahead of print] Gastric cancer and paraneoplastic dermatomyositis as complications of an unrecognized juvenile polyposis syndrome. Schiemer M1, Schmitt-Graeff A2, Brass V1,3, Hasselblatt P1. 1Department of Medicine II, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Germany. 2Institute of Pathology, Medical Center - University of Freiburg and Faculty of Medicine, University of Freiburg, Germany. 3Present address: Kliniken des Landkreises Lörrach, Germany. PMID: 30873576 DOI:10.1055/a-0855-4404
Imagerie médicale – Medical imaging J Cachexia Sarcopenia Muscle. 2019 Mar 15. doi: 10.1002/jcsm.12415. [Epub ahead of print] Muscle fat quantification using magnetic resonance imaging: case-control study of Charcot-Marie- Tooth disease patients and volunteers. Kim HS1, Yoon YC1, Choi BO2, Jin W3, Cha JG4. 1Department of Radiology, Samsung Medical Center, School of Medicine, Sungkyunkwan University, Seoul, South Korea. 2Department of Neurology, Samsung Medical Center, School of Medicine, Sungkyunkwan University, Seoul, South Korea. 3Department of Radiology, Kyung Hee University Hospital at Gangdong, Seoul, South Korea. 4Department of Radiology, Soonchunhyang University Bucheon Hospital, Bucheon, South Korea. KEYWORDS: Charcot-Marie-Tooth disease; Magnetic resonance imaging; Multiple gradient echo Dixon; Muscle fat quantification PMID: 30873759 DOI:10.1002/jcsm.12415 Free full text
Médecine physique et de réadaptation – Physical and rehabilitation medicine Neuromuscul Disord. 2019 Feb 2. pii: S0960-8966(18)30022-1. [Epub ahead of print] Are novel outcome measures for Charcot-Marie-Tooth disease sensitive to change? The 6-minute walk test and StepWatch™ Activity Monitor in a 12-month longitudinal study. Pazzaglia C1, Padua L2, Pareyson D3, Schenone A4, Aiello A4, Fabrizi GM5, Cavallaro T6, Santoro L7, Manganelli F7, Coraci D1, Gemignani F8, Vitetta F8, Quattrone A9, Mazzeo A10, Russo M11, Vita G12; CMT-TRIAAL Group. 1Fondazione Policlinico Universitario A. Gemelli IRCCS, Roma, Italy. 2IRCCS Fondazione Don Carlo Gnocchi, Piazzale Morandi 6, 20121 Milano, Italy; Department of Geriatrics, Neuroscience and Orthopedics, Università Cattolica del Sacro Cuore, Roma, Italia. Electronic address: [email protected]. 3Department of Clinical Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy. 4Department of Neuroscience, Ospedale San Martino Genova, Genova, Italy. 5Department of Neurological, Biomedical and Motor Sciences, University of Verona, Verona, Italy. 6UOC Neurologia B, AOUI Verona, Verona, Italy. 7Department of Neurological Sciences, Reproductive Sciences and Odontostomatological, ``Federico II'' University, Naples, Italy. 8Department of Neurosciences, University of Parma, Parma, Italy. 9Department of Medical Sciences, ``Magna Graecia'' University, Catanzaro, Italy. 10Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy. 11Nemo Sud Clinical Center for Neuromuscular Diseases, Messina, Italy. 12Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy; Nemo Sud Clinical Center for Neuromuscular Diseases, Messina, Italy. KEYWORDS: Charcot–Marie–Tooth; Outcome measures; Rehabilitation; Sensitivity to changes PMID: 30926199 DOI:10.1016/j.nmd.2019.01.009
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Sports (Basel). 2019 Mar 15;7(3). pii: E64. doi: 10.3390/sports7030064. Precision Medicine and Exercise Therapy in Duchenne Muscular Dystrophy. Kostek M1,2. 1Laboratory of Muscle and Translational Therapeutics, Department of Physical Therapy, Duquesne University, Pittsburgh, PA 15228, USA. [email protected]. 2McGowan Institute of Regenerative Medicine, University of Pittsburgh School of Medicine, Pittsburgh, PA 15228, USA. [email protected]. KEYWORDS: SNP; biomarkers; dystrophy; exercise; gene therapy; muscle contraction; precision exercise; precision medicine; therapy PMID: 30875955 DOI:10.3390/sports7030064Free full text
J Neuroeng Rehabil. 2019 Mar 27;16(1):44. doi: 10.1186/s12984-019-0515-y. Don't forget the trunk in Duchenne muscular dystrophy patients: more muscle weakness and compensation than expected. Peeters LHC1, Kingma I2, van Dieën JH2, de Groot IJM3. 1Department of Rehabilitation, Radboud University Medical Center, Donders Centre for Neuroscience, P.O. Box 9101, Nijmegen, HB, 6500, The Netherlands. [email protected]. 2Department of Human Movement Sciences, Faculty of Behavioral and Movement Sciences, Vrije Universiteit Amsterdam, Amsterdam Movement Sciences, Amsterdam, The Netherlands. 3Department of Rehabilitation, Radboud University Medical Center, Donders Centre for Neuroscience, P.O. Box 9101, Nijmegen, HB, 6500, The Netherlands. KEYWORDS: Activities of daily living; Electromyography; Kinematics; Muscular dystrophy; Trunk PMID: 30917845 DOI: 10.1186/s12984-019-0515-y Free full text
BMC Neurol. 2019 Mar 28;19(1):45. doi: 10.1186/s12883-019-1280-z. Perceived fatigue in myotonic dystrophy type 1: a case-control study. Winblad S1, Lindberg C2,3. 1Department of Psychology, University of Gothenburg, Box 500, 405 30, Gothenburg, Sweden. [email protected]. 2Neuromuscular Centre, Department of Neurology, Sahlgrenska University Hospital, Gothenburg, Sweden. 3Department of Clinical Genetics, Sahlgrenska University Hospital, Gothenburg, Sweden. KEYWORDS: Cognition; Depression; Fatigue; Myotonic dystrophy; Neuromuscular PMID: 30922263 DOI:10.1186/s12883-019-1280-zFree full text
Nephrologie – Nephrology CEN Case Rep. 2019 Mar 21. doi: 10.1007/s13730-019-00392-6. [Epub ahead of print] Novel Asp511Thr mutation in McArdle disease with acute kidney injury caused by rhabdomyolysis. Satoh A1,2, Hirashio S1,2, Arima T2, Yamada Y1,2, Irifuku T2, Ishibashi H3, Motoda A3, Sueda Y3, Masaki T4. 1Department of Nephrology, Hiroshima University Hospital, 1-2-3 Kasumi, Minami-ku, Hiroshima, 7348551, Japan. 2Department of Nephrology, National Hospital Organization Higashi-Hiroshima Medical Center, Hiroshima, Japan. 3Department of Neurology, National Hospital Organization Higashi-Hiroshima Medical Center, Hiroshima, Japan. 4Department of Nephrology, Hiroshima University Hospital, 1-2-3 Kasumi, Minami-ku, Hiroshima, 7348551, Japan. [email protected]. KEYWORDS: Acute kidney injury; Glycogen storage disease type V; Hypercreatine phosphokinase; McArdle disease; Rhabdomyolysis PMID: 30900170 DOI: 10.1007/s13730-019-00392-6 Free full text
Ophtalmologie – Ophthalmology Acta Ophthalmol. 2019 Mar 29. doi: 10.1111/aos.14095. [Epub ahead of print] The combination of whole-exome sequencing and clinical analysis allows better diagnosis of rare syndromic retinal dystrophies. Abu Diab A1, AlTalbishi A2, Rosin B1, Kanaan M3, Kamal L3, Swaroop A4, Chowers I1, Banin E1, Sharon D1, Khateb S1. 1Department of Ophthalmology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel. 2St John Eye Hospital, Jerusalem, Israel. 3Hereditary Research Lab, Bethlehem University, Jerusalem, Israel. 4Neurobiology-Neurodegeneration & Repair Laboratory, National Eye Institute, National Institutes of Health, Bethesda, Maryland, USA.
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KEYWORDS: inherited rare disease; precise clinical diagnosis; syndromic retinal disease; whole-exome sequencing PMID: 30925032 DOI:10.1111/aos.14095
Neurology. 2019 Mar 26;92(13):636. doi: 10.1212/WNL.0000000000007170. Editors' note: A family-based study into penetrance in facioscapulohumeral muscular dystrophy type 1. Ganesh A, Galetta S. PMID: 30910945 DOI:10.1212/WNL.0000000000007170
Already see in Neuromuscular Bibliography 2018-07-2, available in Myobase.org: http://www.myobase.org/index.php?lvl=notice_display&id=65919 July 31, 2018; 91 (5) Neurology A family-based study into penetrance in facioscapulohumeral muscular dystrophy type 1 Mariëlle Wohlgemuth, Richard J. Lemmers, Marianne Jonker, Elly van der Kooi, Corinne G. Horlings, Baziel G. van Engelen, Silvere M. van der Maarel, George W. Padberg, Nicol C. Voermans Glossary CSS=clinical severity score; FSHD=facioscapulohumeral muscular dystrophy type 1; PFGE=pulsed field gel electrophoresis DOI: https://doi.org/10.1212/WNL.0000000000005915 PMID: 29997197 https://www.ncbi.nlm.nih.gov/pubmed/?term=29997197
Neurology. 2019 Mar 26;92(13):637. doi: 10.1212/WNL.0000000000007172. Reader response: A family-based study into penetrance in facioscapulohumeral muscular dystrophy type 1. Brignol TN1, Urtizberea JA2. 1(Evry, France). 2(Marseille, France). PMID: 30910946 DOI:10.1212/WNL.0000000000007172
Neurology. 2019 Mar 26;92(13):637. doi: 10.1212/WNL.0000000000007171. Author response: A family-based study into penetrance in facioscapulohumeral muscular dystrophy type 1. Voermans NC1, Goselink RJ1. 1(Nijmegen, Netherlands). PMID: 30910947 DOI:10.1212/WNL.0000000000007171
Pneumologie – Pulmonogy Eur Rev Med Pharmacol Sci. 2019 Mar;23(1 Suppl):15-18. doi: 10.26355/eurrev_201903_17342. Obstructive sleep apnea syndrome in the pediatric age: the role of the pneumologist. Toraldo DM1, Di Michele L, Ralli M, Arigliani M, Passali GC, De Benedetto M, Passali D. 1Department of Rehabilitation, Cardiorespiratory Rehabilitation Unit, Vito Fazzi Hospital, ASL Lecce, Lecce, Italy. [email protected]. PMID: 30920630 DOI:10.26355/eurrev_201903_17342
Pediatr Pulmonol. 2019 Mar 18. doi: 10.1002/ppul.24315. [Epub ahead of print] Turning the tide in spinal muscular atrophy: A different respiratory course. Mayer OH1. 1Division of Pulmonology, The Children's Hospital of Philadelphia, The Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania. PMID: 30884211 DOI:10.1002/ppul.24315
Muscle Nerve. 2019 Mar 21. doi: 10.1002/mus.26471. [Epub ahead of print] A model to predict ventilator requirement in myotonic dystrophy type 1. Vivekananda U1, Turner C1. 1MRC Centre for Neuromuscular Diseases, National Hospital for Neurology and Neurosurgery, Queen Square, London WC1N 3BG, United Kingdom.
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KEYWORDS: daytime somnolescence; muscle impairment rating scale; myotonic dystrophy; nocturnal positive airway pressure; obstructive sleep apnea; repeat expansion PMID: 30895625 DOI:10.1002/mus.26471
Case Rep Radiol. 2019 Feb 11;2019:5095343. doi: 10.1155/2019/5095343. eCollection 2019. A Case of Progressive Ossifying Fibrodysplasia of Tracheobronchial Respiratory Muscles. Habib N1, Konan A2, Bi Zamble Olivier Didier T3. 1Radiology Department of Mahavoky Atsimo University Hospital, Mahajanga, Madagascar. 2Radiology Department of Yopougon University Hospital, 21 BP 632 Abidjan, Côte d'Ivoire. 3Radiology Department of Bingerville University Hospital, Abidjan, Côte d'Ivoire. PMID: 30886756 PMCID:PMC6388317 DOI:10.1155/2019/5095343 Free PMC Article
Neurohospitalist. 2019 Apr;9(2):79-84. doi: 10.1177/1941874418811249. Epub 2018 Nov 26. Pulmonary Function Testing in Elderly Patients Treated for a Myasthenia Gravis Exacerbation. van Gaal SC1, English SW2, Bourque PRJ3, Zwicker JC3. 1Division of Neurology, Department of Medicine, University of British Columbia, Vancouver, British Columbia, Canada. 2Division of Neurology, Department of Medicine, University of Ottawa, Ottawa, Ontario, Canada. 3Department of Medicine (Critical Care), University of Ottawa, Ottawa, Ontario, Canada. KEYWORDS: age effects; elderly; myasthenia gravis; myasthenia gravis exacerbation; pulmonary function tests; vital capacity PMID: 30915185 PMCID:PMC6429677 [Available on 2020-04-01] DOI:10.1177/1941874418811249
Respirol Case Rep. 2019 Mar 12;7(4):e00412. doi: 10.1002/rcr2.412. eCollection 2019 May. Small cell lung cancer and interstitial pneumonia associated with anti-transcriptional intermediary factor-1γ-positive dermatomyositis. Kato T1, Ito S1, Tsuzuki T2, Watanabe D3, Kubo A1, Yamaguchi E1. 1Department of Respiratory Medicine and Allergology Aichi Medical University Nagakute Japan. 2Department of Surgical Pathology Aichi Medical University Nagakute Japan. 3Department of Dermatology Aichi Medical University Nagakute Japan. KEYWORDS: Dermatomyositis; interstitial lung disease; lung cancer; malignancy; transcriptional intermediary factor‐1γ PMID: 30906559 PMCID:PMC6412960 DOI:10.1002/rcr2.412 Free PMC Article
Clin Rheumatol. 2019 Mar 19. doi: 10.1007/s10067-019-04501-9. [Epub ahead of print] Serum KL-6 is associated with the severity of interstitial lung disease in Chinese patients with polymyositis and dermatomyositis. Hu C1,2, Wu C1,2, Yang E1,2, Huang H3, Xu D1,2, Hou Y1,2, Zhao J1,2, Li M1,2, Xu Z3, Zeng X4,5, Wang Q6,7. 1Department of Rheumatology, Peking Union Medical College Hospital, Peking Union Medical College &Chinese Academy of Medical Sciences, No.1 Shuaifuyuan, Beijing, 100730, China. 2Key Laboratory of Rheumatology and Clinical Immunology, Ministry of Education, No.1 Shuaifuyuan, Beijing, 100730, China. 3Department of Respiratory Medicine, Peking Union Medical College Hospital, Peking Union Medical College &Chinese Academy of Medical Sciences, No.1 Shuaifuyuan, Beijing, 100730, China. 4Department of Rheumatology, Peking Union Medical College Hospital, Peking Union Medical College &Chinese Academy of Medical Sciences, No.1 Shuaifuyuan, Beijing, 100730, China. [email protected]. 5Key Laboratory of Rheumatology and Clinical Immunology, Ministry of Education, No.1 Shuaifuyuan, Beijing, 100730, China. [email protected]. 6Department of Rheumatology, Peking Union Medical College Hospital, Peking Union Medical College &Chinese Academy of Medical Sciences, No.1 Shuaifuyuan, Beijing, 100730, China. [email protected]. 7Key Laboratory of Rheumatology and Clinical Immunology, Ministry of Education, No.1 Shuaifuyuan, Beijing, 100730, China. [email protected]. KEYWORDS: Dermatomyositis; Interstitial lung disease; KL-6; Polymyositis; Pulmonary function test PMID: 30888566 DOI:10.1007/s10067-019-04501-9
J Microbiol Immunol Infect. 2019 Mar 8. pii: S1684-1182(18)30099-9. [Epub ahead of print] The microbiological characteristics of lower respiratory tract infection in patients with neuromuscular disorders: An investigation based on a multiplex polymerase chain reaction to detect viruses and a clone library analysis of the bacterial 16S rRNA gene sequence in sputum samples.
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Ogawa M1, Hoshina T2, Haro K1, Kumadaki T1, Ishii M1, Fujino Y3, Fukuda K4, Kusuhara K1. 1Department of Pediatrics, School of Medicine, University of Occupational and Environmental Health, Japan. 2Department of Pediatrics, School of Medicine, University of Occupational and Environmental Health, Japan. Electronic address: [email protected]. 3Department of Preventive Medicine and Community Health, School of Medicine, University of Occupational and Environmental Health, Japan. 4Department of Microbiology, School of Medicine, University of Occupational and Environmental Health, Japan. KEYWORDS: 16S rRNA gene; Lower respiratory tract infection; Microbiome in respiratory tract; Neuromuscular disorders; Respiratory viruses PMID: 30898603 DOI:10.1016/j.jmii.2019.01.002 Free full text
Respir Med Case Rep. 2019 Feb 16;26:304-306. doi: 10.1016/j.rmcr.2019.02.012. eCollection 2019. Respiratory dysfunction following initiation of mirabegron: A case report. Malsin ES1, Coleman JM2, Wolfe LF3, Lam AP1. 1Northwestern University Feinberg School of Medicine, Division of Pulmonary and Critical Care Medicine, 240 East Huron Street, McGaw Pavilion, Suite M-349 Chicago, Illinois 60611, USA. 2Northwestern University Feinberg School of Medicine, Division of Pulmonary and Critical Care Medicine, 676 North St. Clair, Arkes Pavilion Suite 1400 Chicago, IL 60611, USA. 3Northwestern University Feinberg School of Medicine, Division of Pulmonary and Critical Care Medicine, 240 East Huron Street, McGaw Pavilion, Suite M-341, Chicago, IL 60611, USA. KEYWORDS: Adverse medication effect; Neuromuscular lung disease; β3 receptor agonist therapy PMID: 30886821 PMCID:PMC6402286 DOI:10.1016/j.rmcr.2019.02.012 Free PMC Article
Eur Respir J. 2019 Mar 17. pii: 1802118. doi: 10.1183/13993003.02118-2018. [Epub ahead of print] Randomised controlled trial of polysomnographic titration of non-invasive ventilation. Hannan LM1,2,3, Rautela L4,2,5, Berlowitz DJ4,2,5, McDonald CF4,2,3, Cori JM4, Sheers N4,2,5, Chao C4,2,5, O'Donoghue FJ4,2,3, Howard ME4,2,3. 1Institute for Breathing and Sleep, Austin Health, Melbourne, Victoria, Australia [email protected]. 2Department of Respiratory and Sleep Medicine, Austin Health, Melbourne, Victoria, Australia. 3Department of Medicine, Dentistry and Health Sciences, University of Melbourne, Victoria, Australia. 4Institute for Breathing and Sleep, Austin Health, Melbourne, Victoria, Australia. 5Department of Physiotherapy, University of Melbourne, Melbourne, Victoria, Australia. PMID: 30880286 DOI:10.1183/13993003.02118-2018
Eur Radiol. 2019 Mar 27. doi: 10.1007/s00330-019-06152-5. [Epub ahead of print] Prognostic factors of interstitial lung disease progression at sequential HRCT in anti-synthetase syndrome. Liu H1, Xie S2, Liang T1, Ma L3, Sun H1, Dai H4, Wang C5. 1Department of Radiology, China-Japan Friendship Hospital, Beijing, 100029, China. 2Department of Radiology, China-Japan Friendship Hospital, Beijing, 100029, China. [email protected]. 3Department of Rheumatology, China-Japan Friendship Hospital, Beijing, 100029, China. 4Department of Pulmonology, Beijing Chaoyang Hospital, Beijing, 100029, China. 5Department of Pulmonology, China-Japan Friendship Hospital, Beijing, 100029, China. KEYWORDS: Dermatomyositis; Interstitial lung disease; Polymyositis; Prognosis PMID: 30919069 DOI: 10.1007/s00330-019-06152-5
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