Bibliographie sur les maladies neuromusculaires Bibliography of neuromuscular disorders n° 2020-05-2 du 12 au 24 mai 2020 (May 12 to 24, 2020)
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 issue des Fiches Techniques Savoir & Comprendre publiées par l'AFM-Téléthon intitulées « Principales maladies neuromusculaires » (Novembre 2017) et « Recherche Neuromusculaire : Etat des lieux, 6ème Edition » (Septembre 2018). Vous trouverez les veilles précédentes sur notre portail documentaire dédié aux maladies neuromusculaires Myobase
Every two weeks, the AFM documentation service publishes the “Neuromuscular Bibliography” in which you will find latest references published in Pubmed. The list of diseases below comes from both resources: « Principales maladies neuromusculaires » (November 2017) and « Recherche Neuromusculaire : Etat des lieux, 6ème Edition » (September 2018) published by AFM-Téléthon in Fiches Techniques Savoir & Comprendre Serie. Previous reports are available on Myobase, the informations tool about neuromuscular diseases.
Sommaire par maladies / diseases COVID-19 et maladies neuromusculaires – COVID-19 and neuromuscular diseases ...... 3 Amyotrophies bulbospinales – Bulbospinal amyotrophies ...... 3 Amyotrophie spinale proximale liée à SMN1 – SMN1-related spinal muscular atrophy (SMA) ...... 3 Anoctaminopathies – Anoctaminopathies ...... 7 Canalopathies musculaires – Muscular channelopathies...... 7 Dystrophies musculaires congénitales – Congenital muscular dystrophies ...... 7 Collagénopathies – Collagenopathies...... 8 Dystrophinopathies, dystrophie musculaire de Duchenne, dystrophie musculaire de Becker – Dystrophinopathies ...... 9 Dystrophies musculaires des ceintures – Limb-girdle muscular dystrophies ...... 14 Dysferlinopathies – Dysferlinopathies ...... 15 Dystroglycanopathies – Dystroglycanopathies ...... 15 Dystrophies myotoniques – Myotonic dystrophies ...... 16 Laminopathies – Laminopathies ...... 16 Maladie de Charcot-Marie-Tooth – Charcot-Marie-Tooth disease ...... 16 Myasthénie autoimmune – Myasthenia gravis ...... 18 Myopathies congénitales – Congenital myopathies ...... 22 Myopathies distales – Distal myopathies ...... 23 Myopathies inflammatoires – Inflammatory myopathies ...... 23 Maladie de Pompe – Pompe disease ...... 28 Myopathies métaboliques – Metabolic myopathies ...... 28 Myopathies mitochondriales – Mitochondrial myopathies ...... 29 Myopathies myofibrillaires – Myofibrillar myopathies...... 30 Myosinopathies – Myosinopathies ...... 30 Myotonies congénitales – Myotonia congenita ...... 31 Syndromes myasthéniques congénitaux – Congenital myasthenic syndrome ...... 31 Maladies du motoneurone (plusieurs pathologies) – Motor neuron diseases (Multiple) ...... 31 Dystrophies musculaires (plusieurs pathologies) – Muscular dystrophies (Multiple) ...... 31
AFM-Téléthon (Service Documentation) – 25/05/2020 1/42
Bibliographie sur les maladies neuromusculaires Bibliography of neuromuscular disorders n° 2020-05-2 du 12 au 24 mai 2020 (May 12 to 24, 2020)
Maladies neuromusculaires (plusieurs pathologies) – Neuromuscular diseases (Multiple) ...... 32 Divers – Miscellaneous ...... 34 Sommaire par spécialités / specialties Anatomopathologie – Anatomical pathology ...... 36 Cardiologie – Cardiology ...... 36 Électromyographie – Electromyography ...... 37 Gastroentérologie / Nutrition – Gastroenterology / Nutrition ...... 38 Imagerie médicale – Medical imaging ...... 38 Médecine physique et de réadaptation – Physical and rehabilitation medicine ...... 39 Ophtalmologie – Ophthalmology ...... 40 Pneumologie – Pulmonogy ...... 41
AFM-Téléthon (Service Documentation) – 25/05/2020 2/42
Bibliographie sur les maladies neuromusculaires Bibliography of neuromuscular disorders n° 2020-05-2 du 12 au 24 mai 2020 (May 12 to 24, 2020)
COVID-19 et maladies neuromusculaires – COVID-19 and neuromuscular diseases 1. Muscle Nerve. 2020 May 11. doi: 10.1002/mus.26918. [Epub ahead of print] COVID-19 in patients with myasthenia gravis. Anand P1, Slama MCC2,3, Kaku M1, Ong C1, Cervantes-Arslanian AM1, Zhou L1, David WS2, Guidon AC2. 1Department of Neurology, Boston University Medical Center, Boston, Massachusetts. 2Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts. 3Department of Neurology, Brigham and Women's Hospital, Boston, Massachusetts. KEYWORDS: COVID-19; immunosuppression; myasthenia gravis; neuroimmunology; neuromuscular disorders PMID: 32392389 DOI:10.1002/mus.26918
2. Ann Rheum Dis. 2020 May 22. pii: annrheumdis-2020-217522. [Epub ahead of print] Antibodies against immunogenic epitopes with high sequence identity to SARS-CoV-2 in patients with autoimmune dermatomyositis. Megremis S1, Walker TDJ2, He X2, Ollier WER3,4, Chinoy H5,6, Hampson L2, Hampson I2, Lamb JA7. 1Division of Evolution and Genomic Sciences, The University of Manchester, Manchester, UK. 2Division of Cancer Sciences, The University of Manchester, Manchester, UK. 3Division of Population Health, Health Services Research and Primary Care, The University of Manchester, Manchester, Manchester, UK. 4Centre for Bioscience, Faculty of Science and Engineering, Manchester Metropolitan University, Manchester, UK. 5National Institute for Health Research Manchester Biomedical Research Centre, Manchester University NHS Foundation Trust, The University of Manchester, Manchester, UK. 6Department of Rheumatology, Manchester Academic Health Science Centre, Salford Royal NHS Foundation Trust, Salford, Salford, UK. 7Division of Population Health, Health Services Research and Primary Care, The University of Manchester, Manchester, Manchester, UK [email protected]. KEYWORDS: autoantibodies; autoimmune diseases; dermatomyositis PMID: 32444414 DOI:10.1136/annrheumdis-2020-217522
Amyotrophies bulbospinales – Bulbospinal amyotrophies 3. Int J Mol Sci. 2020 May 13;21(10). pii: E3443. doi: 10.3390/ijms21103443. Enhanced Clearance of Neurotoxic Misfolded Proteins by the Natural Compound Berberine and Its Derivatives. Rusmini P1, Cristofani R1, Tedesco B1, Ferrari V1, Messi E1, Piccolella M1, Casarotto E1, Chierichetti M1, Cicardi ME1,2, Galbiati M1, Geroni C3, Lombardi P3, Crippa V1, Poletti A1. 1Dipartimento di Scienze Farmacologiche e Biomolecolari (DiSFeB), Dipartimento di Eccellenza 2018-2022, Centro di Eccellenza sulle Malattie Neurodegenerative, Università degli Studi di Milano, 20133 Milan, Italy. 2Jefferson Weinberg ALS Center, Vickie and Jack Farber Institute for Neuroscience, Sidney Kimmel Medical College, Department of Neuroscience, Thomas Jefferson University, Philadelphia, PA 19107, USA. 3Naxospharma srl, 20026 Novate Milanese, Milan, Italy. KEYWORDS: amyotrophic lateral sclerosis; autophagy; berberine; frontotemporal dementia; misfolding; neurodegeneration; proteasome; protein aggregation; spinal and bulbar muscular atrophy PMID: 32414108 DOI:10.3390/ijms21103443 Free full text
Amyotrophie spinale proximale liée à SMN1 – SMN1-related spinal muscular atrophy (SMA) 4. Orphanet J Rare Dis. 2020 May 22;15(1):118. doi: 10.1186/s13023-020-01387-8. The SMA Clinical Trial Readiness Program: creation and evaluation of a program to enhance SMA trial readiness in the United States. Peterson I1, Cruz R2, Sarr F1, Stanley AM1, Jarecki J3. 1Faegre Drinker Biddle & Reath LLP, Washington, DC, USA. 2Cure SMA, Elk Grove Village, IL, USA. [email protected]. 3Cure SMA, Elk Grove Village, IL, USA. KEYWORDS: Clinical trial best practices; Clinical trial coordination; Clinical trial readiness; Physical therapist and evaluator readiness; Rare disease; Rare disease clinical trial; Spinal muscular atrophy PMID: 32443972 DOI:10.1186/s13023-020-01387-8
AFM-Téléthon (Service Documentation) – 25/05/2020 3/42
Bibliographie sur les maladies neuromusculaires Bibliography of neuromuscular disorders n° 2020-05-2 du 12 au 24 mai 2020 (May 12 to 24, 2020)
5. Noncoding RNA. 2020 May 18;6(2). pii: E18. doi: 10.3390/ncrna6020018. Expression Profile of Long Non-Coding RNAs during Early Postnatal Development of Mouse Spinal Cord. Verheijen BM1,2. 1Department of Translational Neuroscience, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht University, 3584 CG Utrecht, The Netherlands. 2Laboratory for Experimental Neurology, University Medical Center Utrecht, 3584 CG Utrecht, The Netherlands. KEYWORDS: RNA sequencing; circular RNA; long non-coding RNA; myelination; neurodevelopment; postnatal development; spinal cord; spinal muscular atrophy; splicing PMID: 32443580 DOI:10.3390/ncrna6020018
6. Diagn Interv Radiol. 2020 May 21. doi: 10.5152/dir.2020.19607. [Epub ahead of print] Nusinersen injections in adults and children with spinal muscular atrophy: a single-center experience. Özütemiz C, Karachunski P, R Nascene D. PMID: 32436843 DOI:10.5152/dir.2020.19607 Free full text
7. Expert Opin Biol Ther. 2020 May 20. doi: 10.1080/14712598.2020.1772747. [Epub ahead of print] Will the US$5 million onasemnogene abeparvosec treatment for spinal muscular atrophy represent 'value for money' for the NHS? A rapid inquiry into suggestions that it may be cost-effective. Connock M1, Andronis L1, Auguste P1, Dussart C2, Armoiry X1,3. 1University of Warwick, Warwick Medical School , Gibbet Hill road, CV47AL Coventry, UK. 2University of Lyon , School of Pharmacy (ISPB)/EA P2S/Pharmacy Department, Lyon, France. 3University of Lyon, School of Pharmacy (ISPB)/UMR CNRS 5510 MATEIS/Edouard Herriot Hospital , Pharmacy Department, Lyon, France. KEYWORDS: Zolgensma; cost-effectiveness; onasemnogene abeparvosec; spinal muscular atrophy PMID: 32434404 DOI:10.1080/14712598.2020.1772747
8. Neurosci Insights. 2020 Apr 28;15:2633105520921294. doi: 10.1177/2633105520921294. eCollection 2020. CORRIGENDUM to Molecular Crosstalk Between Non-SMN-Related and SMN-Related Spinal Muscular Atrophy. [No authors listed] [This corrects the article DOI: 10.1177/2633105520914301.]. Erratum for Molecular Crosstalk Between Non-SMN-Related and SMN-Related Spinal Muscular Atrophy. [Neurosci Insights. 2020] PMID: 32426711 PMCID:PMC7218302 DOI:10.1177/2633105520921294 Free PMC Article
9. Mol Ther Methods Clin Dev. 2020 Apr 18;17:969-974. eCollection 2020 Jun 12. Translational Feasibility of Lumbar Puncture for Intrathecal AAV Administration. Hinderer C1, Katz N1, Dyer C1, Goode T1, Johansson J1, Bell P1, Richman L1, Buza E1, Wilson JM1. 1Gene Therapy Program, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA. KEYWORDS: AAV; central nervous system; cerebrospinal fluid; cisterna magna; intrathecal; lumbar puncture PMID: 32420410 PMCID:PMC7218226 DOI: 10.1016/j.omtm.2020.04.012 Free PMC Article
10. SLAS Discov. 2020 May 18:2472555220922802. doi: 10.1177/2472555220922802. [Epub ahead of print] Target-Directed Approaches for Screening Small Molecules against RNA Targets. Haniff HS1, Knerr L2, Chen JL1, Disney MD1, Lightfoot HL3. 1Department of Chemistry, The Scripps Research Institute, Jupiter, FL, USA. 2Medicinal Chemistry, Research and Early Development, Cardiovascular, Renal and Metabolism (CVRM), BioPharmaceuticals R&D, AstraZeneca, Gothenburg, Sweden. 3Functional and Mechanistic Safety, R&D, AstraZeneca, Cambridge, UK. PMID: 32419578 DOI:10.1177/2472555220922802
AFM-Téléthon (Service Documentation) – 25/05/2020 4/42
Bibliographie sur les maladies neuromusculaires Bibliography of neuromuscular disorders n° 2020-05-2 du 12 au 24 mai 2020 (May 12 to 24, 2020)
11. Genet Med. 2020 May 18. doi: 10.1038/s41436-020-0824-3. [Epub ahead of print] Implementation of population-based newborn screening reveals low incidence of spinal muscular atrophy. Kay DM1, Stevens CF2, Parker A2, Saavedra-Matiz CA2, Sack V2, Chung WK3,4, Chiriboga CA5, Engelstad K5, Laureta E6, Farooq O7, Ciafaloni E8, Lee BH8, Malek S9, Treidler S10, Anziska Y11, Delfiner L12, Sakonju A13, Caggana M2. 1Newborn Screening Program, Division of Genetics, Wadsworth Center, New York State Department of Health, Albany, NY, USA. [email protected]. 2Newborn Screening Program, Division of Genetics, Wadsworth Center, New York State Department of Health, Albany, NY, USA. 3Department of Pediatrics, Columbia University, New York, NY, USA. 4Department of Medicine, Columbia University, New York, NY, USA. 5Division of Child Neurology, Department of Neurology, Columbia University, New York, NY, USA. 6Cohen Children's Medical Center, New Hyde Park, NY, USA. 7Department of Neurology, Jacobs School of Medicine & Biomedical Sciences, University of Buffalo, Buffalo, NY, USA. 8Department of Neurology, University of Rochester, Rochester, NY, USA. 9Albany Medical Center, Albany, NY, USA. 10Department of Neurology, Renaissance School of Medicine, Stony Brook University, Stony Brook, NY, USA. 11SUNY Downstate Medical Center, Brooklyn, NY, USA. 12Montefiore Medical Center, Bronx, NY, USA. 13SUNY Upstate Medical Center, Syracuse, NY, USA. KEYWORDS: Recommended Uniform Screening Panel (RUSP); SMN1; carrier screening; newborn screening (NBS); spinal muscular atrophy (SMA) PMID: 32418989 DOI:10.1038/s41436-020-0824-3
12. J Neuromuscul Dis. 2020 May 11. doi: 10.3233/JND-190466. [Epub ahead of print] Evaluation of Genotypes and Epidemiology of Spinal Muscular Atrophy in Greece: A Nationwide Study Spanning 24 Years. Kekou K1, Svingou M1, Sofocleous C1,2, Mourtzi N3, Nitsa E4, Konstantinidis G5, Youroukos S3, Skiadas K6, Katsalouli M6, Pons R3, Papavasileiou A7, Kotsalis C7, Pavlou E8, Evangeliou A9, Katsarou E10, Voudris K10, Ntinopoulos A11, Vorgia P12, Niotakis G13, Diamantopoulos N14, Nakou I15, Koute V16, Vartzelis G17, Papadimas GK18, Papadopoulos C18, Tsivgoulis G19, Traeger-Synodinos J1. 1Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens, "Aghia Sophia" Children's Hospital, Athens. 2Research Institute for the Study of Genetic and Malignant Disorders in Childhood, "Aghia Sophia" Children's Hospital, Athens. 3First Department of Paediatrics, Medical School, National and Kapodistrian University of Athens, "Aghia Sophia" Children's Hospital, Athens. 4Postgraduate Program in Biostatistics School Of Medicine, National and Kapodistrian University of Athens, Athens. 5Laboratory of, Medical School, National and Kapodistrian University of Athens, "Aghia Sophia" Children's Hospital, Athens. 6Department of Neurology, "Aghia Sophia" Children's Hospital, Athens. 7Department of Pediatric Neurology, Penteli Children's Hospital, Athens. 82nd Department of Pediatrics, School of Medicine, Aristotle University of Thessaloniki, University General Hospital AHEPA, Thessaloniki. 9Department of Pediatrics, School of Medicine, Aristotle University of Thessaloniki, General Hospital Papageorgiou, Thessaloniki. 10Department of Neurology, 'P & A Kyriakou' Children's Hospital, Athens. 11Third Department of Pediatrics, National & Kapodistrian University of Athens, "Attikon" University Hospital, Athens. 12Pediatric Department, University Hospital of Heraklion, Crete. 13Pediatric Neurology Clinics, Venizeleion General Hospital, Heraklion, Crete. 14Department of Pediatric Neurology, Karamandanion Children's Hospital, Patras. 15Department of Pediatrics, University of Ioannina, Stavros Niarchos Avenue, Ioannina. 16Pediatric Department, University Hospital of Larissa, University of Thessaly, Larissa. 17Second Department of Pediatrics, National and Kapodistrian University of Athens, Medical School, "P. & A. Kyriakous" Children's Hospital, Athens, Greece. 18Department of Neurology, Eginition Hospital, Medical School, National and Kapodistrian University of Athens, Athens. 19Second Department of Neurology, National & Kapodistrian University of Athens, "Attikon" University Hospital, Athens. KEYWORDS: Spinal muscular atrophy; epidemiology; gender; incidence; mutation; neuromuscular disease; prevalence PMID: 32417790 DOI:10.3233/JND-190466
AFM-Téléthon (Service Documentation) – 25/05/2020 5/42
Bibliographie sur les maladies neuromusculaires Bibliography of neuromuscular disorders n° 2020-05-2 du 12 au 24 mai 2020 (May 12 to 24, 2020)
13. Pediatr Neurol. 2020 Jan 22. pii: S0887-8994(20)30027-8. [Epub ahead of print] Overturning the Paradigm of Spinal Muscular Atrophy as just a Motor Neuron Disease. Yeo CJJ1, Darras BT2. 1Department of Neurology, Neuromuscular Center and SMA Program, Boston Children's Hospital, Boston, Massachusetts; Harvard Medical School, Boston, Massachusetts; Division of Neuromuscular Medicine, Department of Neurology, Brigham and Women's Hospital, Boston, Massachusetts; Division of Neuromuscular Medicine, Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts; Translational Neuromuscular Medicine Laboratory, Institute of Molecular and Cell Biology, Singapore; Experimental Drug Development Center, Singapore. Electronic address: [email protected]. 2Department of Neurology, Neuromuscular Center and SMA Program, Boston Children's Hospital, Boston, Massachusetts; Harvard Medical School, Boston, Massachusetts. Electronic address: [email protected]. KEYWORDS: Gene therapy; Motor neuron; Multisystem; Neuromuscular; Spinal muscular atrophy PMID: 32409122 DOI:10.1016/j.pediatrneurol.2020.01.003
14. Sci Rep. 2020 May 13;10(1):8206. doi: 10.1038/s41598-020-64694-x. Author Correction: Neuronal activity regulates DROSHA via autophagy in spinal muscular atrophy. Gonçalves IDCG1, Brecht J1, Thelen MP1, Rehorst WA1, Peters M1,2, Lee HJ3,4, Motameny S5, Torres-Benito L1,2, Ebrahimi- Fakhari D6, Kononenko NL4, Altmüller J1,2,5, Vilchez D3,4, Sahin M6, Wirth B1,2,3,7, Kye MJ8. 1Institute of Human Genetics, University of Cologne, Cologne, 50931, Germany. 2Center for Molecular Medicine Cologne, University of Cologne, Cologne, 50931, Germany. 3Institute for Genetics, University of Cologne, Cologne, 50931, Germany. 4Cologne Excellence Cluster for Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne, 50931, Cologne, Germany. 5Cologne Center for Genomics (CCG), University of Cologne, 50931, Cologne, Germany. 6Department of Neurology, The F.M. Kirby Center for Neurobiology, Boston Children's Hospital, Harvard Medical School, Boston, MA, 02115, USA. 7Center for Rare Diseases, University Hospital Cologne, Cologne, Germany. 8Institute of Human Genetics, University of Cologne, Cologne, 50931, Germany. [email protected]. Erratum for Neuronal activity regulates DROSHA via autophagy in spinal muscular atrophy. [Sci Rep. 2018]. Myobase link : http://www.myobase.org/index.php?lvl=notice_display&id=65583 PMID: 32398663 PMCID: PMC7217882 DOI: 10.1038/s41598-020-64694-x Free PMC Article
15. Pediatr Pulmonol. 2020 May 11. doi: 10.1002/ppul.24814. [Epub ahead of print] Ultrasound assessment of diaphragmatic function in type 1 spinal muscular atrophy. Buonsenso D1,2, Berti B3, Palermo C3, Leone D3, Ferrantini G3, De Sanctis R3, Onesimo R1, Curatola A1, Fanelli L3, Forcina N3, Norcia G3, Carnicella S3, Lucibello S3, Mercuri E2,3, Pane M2,3. 1Paediatric Unit, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli IRCCS, Roma, Italia. 2Istituto di Pediatria, Università Cattolica del Sacro Cuore, Roma, Italia. 3Department of Woman and Child Health and Public Health, Paediatric Neurology and Neuromuscular Omnicentre Clinical Center, Fondazione Policlinico A. Gemelli IRCCS, Roma, Italia. KEYWORDS: diaphragm; spinal muscular atrophy; ultrasound PMID: 32394611 DOI:10.1002/ppul.24814
16. Int J Mol Sci. 2020 May 7;21(9). pii: E3297. doi: 10.3390/ijms21093297. New and Developing Therapies in Spinal Muscular Atrophy: From Genotype to Phenotype to Treatment and Where Do We Stand? Chen TH1,2,3. 1Section of Neurobiology, Department of Biological Sciences, University of Southern California, Los Angeles, CA 90089, USA. 2Division of Pediatric Emergency, Department of Pediatrics, Kaohsiung Medical University Hospital, Kaohsiung Medical University, Kaohsiung 80708, Taiwan. 3Ph.D. Program in Translational Medicine, Graduate Institute of Clinical Medicine, Kaohsiung Medical University and Academia Sinica, Taipei 11529, Taiwan. KEYWORDS: clinical care; novel therapy; spinal muscular atrophy; survival motor neuron protein PMID: 32392694 DOI:10.3390/ijms21093297 Free full text
AFM-Téléthon (Service Documentation) – 25/05/2020 6/42
Bibliographie sur les maladies neuromusculaires Bibliography of neuromuscular disorders n° 2020-05-2 du 12 au 24 mai 2020 (May 12 to 24, 2020)
Anoctaminopathies – Anoctaminopathies 17. Neurol Sci. 2020 May 12. doi: 10.1007/s10072-020-04453-y. [Epub ahead of print] Anoctamin 5 (ANO5) muscular dystrophy-three different phenotypes and a new histological pattern. Seguí F1, Gonzalez-Quereda L2, Sanchez A3, Matas-García A1, Garrabou G1, Rodriguez MJ2, Gallano P2, Grau JM1, Milisenda JC4. 1Muscle Research Unit, Internal Medicine Service, Hospital Clínic de Barcelona, Universidad de Barcelona and CIBERER, C/Villarroel, 170 08036, Barcelona, Spain. 2Genetics Department, Hospital de la Santa Creu i Sant Pau and CIBERER, Barcelona, Spain. 3Genetics Department, Hospital Clínic de Barcelona, Barcelona, Spain. 4Muscle Research Unit, Internal Medicine Service, Hospital Clínic de Barcelona, Universidad de Barcelona and CIBERER, C/Villarroel, 170 08036, Barcelona, Spain. [email protected]. KEYWORDS: Anoctamin 5; Asymptomatic hyperCKemia; Distal Miyoshi-type myopathy; Mitochondrial myopathy; limb- girdle muscular dystrophy 2L PMID: 32399949 DOI:10.1007/s10072-020-04453-y
Canalopathies musculaires – Muscular channelopathies 18. Front Neurol. 2020 Apr 29;11:255. doi: 10.3389/fneur.2020.00255. eCollection 2020. Sodium Channel Myotonia Due to Novel Mutations in Domain I of Nav1.4. Pagliarani S1, Lucchiari S1, Scarlato M2, Redaelli E3, Modoni A4, Magri F5, Fossati B6, Previtali SC2, Sansone VA7, Lecchi M8, Lo Monaco M4,9, Meola G6, Comi GP1,10. 1Dino Ferrari Center, Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy. 2Department of Neurology and INSPE, IRCCS Ospedale San Raffaele, Milan, Italy. 3Department of Biotechnology and Biosciences, University of Milano - Bicocca, Milan, Italy. 4Institute of Neurology, Area of Neuroscience, Fondazione Policlinico Universitario A. Gemelli, IRCCS, Rome, Italy. 5Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Neurology Unit, Milan, Italy. 6Department of Neurorehabilitation Sciences, casa di Cura del Policlinico, Milan, Italy. 7Neurorehabilitation Unit, University of Milan; The NEMO (NEuroMuscular Omniservice) Clinical Center, Milan, Italy. 8Department of Biotechnology and Biosciences and Milan Center for Neuroscience, University of Milano - Bicocca, Milan, Italy. 9MIA (Myotonics in Association), Portici, Italy. 10Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Neuromuscular and Rare Diseases Unit, Milan, Italy. KEYWORDS: Nav 1.4; channelopathy; founder effect; mexiletine; myotonia; sodium channel myotonia PMID: 32411069 PMCID:PMC7201054 DOI:10.3389/fneur.2020.00255 Free PMC Article
19. PLoS One. 2020 May 14;15(5):e0233017. doi: 10.1371/journal.pone.0233017. eCollection 2020. Myotonia congenita and periodic hypokalemia paralysis in a consanguineous marriage pedigree: Coexistence of a novel CLCN1 mutation and an SCN4A mutation. Zhao C1,2, Tang D3, Huang H1, Tang H1, Yang Y1,4, Yang M5, Luo Y6, Tao H7, Tang J6, Zhou X3, Shi X1. 1Department of Medical Genetics, The Second Xiangya Hospital, Central South University, Changsha, Hunan, China. 2Department of Gastroenterology, The Second Xiangya Hospital, Central South University, Changsha, Hunan, China. 3The National & Local Joint Engineering Laboratory of Animal Peptide Drug Development, College of Life Sciences, Hunan Normal University, Changsha, Hunan, China. 4Key laboratory of Carcinogenesis and Translational Research (Ministry of Education), Intensive Care Unit, Peking University Cancer Hospital & Institute, Beijing, China. 5Department of Rehabilitation, The Second Xiangya Hospital, Central South University, Changsha, Hunan, China. 6Department of Neurology, The Second Xiangya Hospital, Central South University, Changsha, Hunan, China. 7Depatment of Biochemistry and Molecular Biology, Hunan University of Chinese Medicine, Changsha, Hunan, China. PMID: 32407401 DOI:10.1371/journal.pone.0233017 Free full text
Dystrophies musculaires congénitales – Congenital muscular dystrophies 20. Neuromuscul Disord. 2020 Apr 17. pii: S0960-8966(20)30086-9. [Epub ahead of print] Clinical and genomic characteristics of LAMA2 related congenital muscular dystrophy in a patients' cohort from Qatar. A population specific founder variant. Abdel Aleem A1, Elsaid MF2, Chalhoub N3, Chakroun A3, Mohamed KAS2, AlShami R2, Kuzu O3, Mohamed RB4, Ibrahim K2, AlMudheki N5, Osman O6, Ross ME3, ELalamy O7.
AFM-Téléthon (Service Documentation) – 25/05/2020 7/42
Bibliographie sur les maladies neuromusculaires Bibliography of neuromuscular disorders n° 2020-05-2 du 12 au 24 mai 2020 (May 12 to 24, 2020)
1Departments of Neurology, Weill Cornell Medicine Qatar, Education City, P.O. 24144, Doha, Qatar; Departments of Center for Neurogenetics, Brain and Mind Research Institute, Weill Cornell Medicine, NY, USA. Electronic address: [email protected]. 2Departments of Neuropediatric, Hamad Medical Corporation and Sidra Medicine, Doha, Qatar. 3Departments of Center for Neurogenetics, Brain and Mind Research Institute, Weill Cornell Medicine, NY, USA. 4Departments of Pediatric, Hamad Medical Corporation and Sidra Medicine, Doha, Qatar. 5Departments of Physiotherapy, Hamad Medical Corporation, Doha, Qatar. 6Department of Radiology, Hamad Medical Corporation, Doha, Qatar. 7Department of Adult Neurology, Hamad Medical Corporation, Doha, Qatar. KEYWORDS: Genomic modifiers; LAMA2 Founder mutation in Qatar; LAMA2-RD; MDC1A; Merosin deficiency congenital muscular dystrophy; Osteopenia in MDC1A PMID: 32444167 DOI:10.1016/j.nmd.2020.03.009
21. Front Mol Neurosci. 2020 Apr 23;13:60. doi: 10.3389/fnmol.2020.00060. eCollection 2020. LAMA2 Neuropathies: Human Findings and Pathomechanisms From Mouse Models. Previtali SC1,2, Zambon AA2. 1Neuromuscular Repair Unit, Institute of Experimental Neurology (InSpe), Division of Neuroscience, IRCCS Ospedale San Raffaele, Milan, Italy. 2Department of Neurology, IRCCS Ospedale San Raffaele, Milan, Italy. KEYWORDS: LAMA2 gene; human; laminin; mousemodel; neuropathy PMID: 32390798 PMCID:PMC7190814 DOI:10.3389/fnmol.2020.00060 Free PMC Article
22. AJNR Am J Neuroradiol. 2020 May 21. doi: 10.3174/ajnr.A6577. [Epub ahead of print] New MRI Findings in Fukuyama Congenital Muscular Dystrophy: Brain Stem and Venous System Anomalies. Hirasawa-Inoue A1, Sato N2, Shigemoto Y3, Kimura Y3, Ishiyama A1, Takeshita E1, Mori-Yoshimura M4, Oya Y4, Takahashi Y4, Komaki H1,5, Matsuda H6, Sasaki M1. 1From the Departments of Child Neurology (A.H.-I., A.I., E.T., H.K., M.S.). 2Radiology (N.S., Y.S., Y.K.) [email protected]. 3Radiology (N.S., Y.S., Y.K.). 4Neurology (M.M.-Y., Y.O., Y.T.). 5National Center Hospital, Translational Medical Center (H.K.). 6Integrative Brain Imaging Center (H.M.), National Center of Neurology and Psychiatry, Tokyo, Japan. PMID: 32439644 DOI:10.3174/ajnr.A6577
Collagénopathies – Collagenopathies 23. Neuromuscul Disord. 2020 Apr 16. pii: S0960-8966(20)30081-X. [Epub ahead of print] Pathogenic variants in COL6A3 cause Ullrich-like congenital muscular dystrophy in young Labrador Retriever dogs. Bolduc V1, Minor KM2, Hu Y1, Kaur R1, Friedenberg SG3, Van Buren S2, Guo LT4, Glennon JC5, Marioni-Henry K6, Mickelson JR2, Bönnemann CG7, Shelton GD8. 1Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892-3705, USA. 2Department of Veterinary and Biomedical Sciences, College of Veterinary Medicine, University of Minnesota, Saint Paul, MN, USA. 3Department of Veterinary Clinical Sciences, College of Veterinary Medicine, University of Minnesota, Saint Paul, MN, USA. 4Department of Pathology, School of Medicine, University of California San Diego, La Jolla, CA 92093-0709, USA. 5Veterinary Specialties, Pattersonville, NY, USA. 6Royal (Dick) School of Veterinary Studies, University of Edinburgh, United Kingdom. 7Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892-3705, USA. Electronic address: [email protected]. 8Department of Pathology, School of Medicine, University of California San Diego, La Jolla, CA 92093-0709, USA. Electronic address: [email protected]. KEYWORDS: Canine; Collagen VI; Muscle; Myopathy PMID: 32439203 DOI:10.1016/j.nmd.2020.03.005
AFM-Téléthon (Service Documentation) – 25/05/2020 8/42
Bibliographie sur les maladies neuromusculaires Bibliography of neuromuscular disorders n° 2020-05-2 du 12 au 24 mai 2020 (May 12 to 24, 2020)
Dystrophinopathies, dystrophie musculaire de Duchenne, dystrophie musculaire de Becker – Dystrophinopathies 24. Photodiagnosis Photodyn Ther. 2020 May 20:101826. doi: 10.1016/j.pdpdt.2020.101826. [Epub ahead of print] Medication-Related Osteonecrosis of the Jaw in a Duchenne Muscular Dystrophy Patient. Campos L1, Miziara LNB1, Gallottini M2, Ortega K2, Martins F3. 1School of Dentistry, University of Santo Amaro, São Paulo, Brazil. 2Special Care Dentistry Center, Department of Stomatology, School of Dentistry, University of São Paulo, São Paulo, SP, Brazil. 3School of Dentistry, University of Santo Amaro, São Paulo, Brazil. Electronic address: [email protected]. KEYWORDS: Duchenne; antimicrobial photodynamic therapy; bisphosphonates; medication-related osteonecrosis; muscular dystrophy; osteonecrosis PMID: 32445961 DOI:10.1016/j.pdpdt.2020.101826
25. Int J Mol Sci. 2020 May 18;21(10). pii: E3555. doi: 10.3390/ijms21103555. Intronic Alternative Polyadenylation in the Middle of the DMD Gene Produces Half-Size N-Terminal Dystrophin with a Potential Implication of ECG Abnormalities of DMD Patients. Rani AQM1,2, Yamamoto T3, Kawaguchi T4, Maeta K1,2, Awano H5, Nishio H1,6, Matsuo M1,2. 1Research Center for Locomotion Biology, Kobe Gakuin University, Nishi, Kobe 6512180, Japan. 2KNC Department of Nucleic Acid Drug Discovery, Faculty of Rehabilitation, Kobe Gakuin University, Nishi, Kobe 6512180, Japan. 3Department of Clinical Laboratory, Kobe University Hospital, Chuo, Kobe 6500017, Japan. 4Translational Research Department, Daiichi Sankyo RD Novare Co., Ltd., Edogawa, Tokyo 1348630, Japan. 5Department of Pediatrics, Kobe University Graduate School of Medicine, Chuo, Kobe 6500017, Japan. 6Department of Occupational Therapy, Faculty of Rehabilitation, Kobe Gakuin University, Nishi, Kobe 6512180, Japan. KEYWORDS: DMD; Dpm234; Duchenne muscular dystrophy; dystrophin; iPS-derived cardiomyocytes; intronic alternative polyadenylation PMID: 32443516 DOI:10.3390/ijms21103555
26. Eur Spine J. 2020 May 21. doi: 10.1007/s00586-020-06458-9. [Epub ahead of print] Intraoperative neurophysiological monitoring during scoliosis surgery in patients with Duchenne muscular dystrophy. Dulfer SE1, Lange F2, Wapstra FH3, Potgieser ARE4, Valk JP5, Absalom AR5, Groen RJM4, Faber C3, Drost G4,2. 1Department of Neurosurgery, University Medical Centre Groningen, University of Groningen, Hanzeplein 1, 9713 GZ, Groningen, The Netherlands. [email protected]. 2Department of Neurology, University Medical Centre Groningen, University of Groningen, Groningen, The Netherlands. 3Department of Orthopedics, University Medical Centre Groningen, University of Groningen, Groningen, The Netherlands. 4Department of Neurosurgery, University Medical Centre Groningen, University of Groningen, Hanzeplein 1, 9713 GZ, Groningen, The Netherlands. 5Department of Anesthesiology, University Medical Centre Groningen, University of Groningen, Groningen, The Netherlands. KEYWORDS: Cortical excitability; Duchenne muscular dystrophy; Intraoperative neurophysiological monitoring; Scoliosis correction surgery; Transcranial electrical stimulation motor evoked potentials PMID: 32440770 DOI:10.1007/s00586-020-06458-9
27. J Cachexia Sarcopenia Muscle. 2020 May 20. doi: 10.1002/jcsm.12569. [Epub ahead of print] Long-term human IgG treatment improves heart and muscle function in a mouse model of Duchenne muscular dystrophy. Zschüntzsch J1, Jouvenal PV1, Zhang Y2, Klinker F3, Tiburcy M4,5, Liebetanz D3, Malzahn D6,7, Brinkmeier H2, Schmidt J1. 1Department of Neurology, University Medical Center Göttingen, Göttingen, Germany. 2Institute of Pathophysiology, University Medicine Greifswald, Karlsburg, Germany. 3Department of Clinical Neurophysiology, University Medical Center Göttingen, Göttingen, Germany. 4Institute of Pharmacology and Toxicology, University Medical Center Göttingen, Göttingen, Germany. 5DZHK (German Center for Cardiovascular Research), Partner Site Göttingen, Göttingen, Germany. 6Department of Genetic Epidemiology, University Medical Center Göttingen, Göttingen, Germany. 7mzBiostatistics, Statistical Consultancy, Göttingen, Germany. KEYWORDS: Immunmodulation; Immunoglobulin G; Inflammation; Muscular dystrophy; Voluntary wheel running; mdx mouse model PMID: 32436338 DOI:10.1002/jcsm.12569 Free full text
AFM-Téléthon (Service Documentation) – 25/05/2020 9/42
Bibliographie sur les maladies neuromusculaires Bibliography of neuromuscular disorders n° 2020-05-2 du 12 au 24 mai 2020 (May 12 to 24, 2020)
28. J Mol Neurosci. 2020 May 21. doi: 10.1007/s12031-020-01594-9. [Epub ahead of print] The First Comprehensive Cohort of the Duchenne Muscular Dystrophy in Iranian Population: Mutation Spectrum of 314 Patients and Identifying Two Novel Nonsense Mutations. Zamani G1, Hosseini Bereshneh A2,3, Azizi Malamiri R4, Bagheri S1,5, Moradi K1,5, Ashrafi MR6, Tavasoli AR1, Mohammadi M1, Badv RS1, Ghahvechi Akbari M7, Heidari M8,9. 1Pediatrics Center of Excellence, Department of Pediatric Neurology, Children's Medical Center, Tehran University of Medical Sciences, Bagherkhan St, Tehran, 1419733141, Iran. 2Prenatal Diagnosis and Genetic Research Center, Dastgheib Hospital, Shiraz University of Medical Sciences, Shiraz, Iran. 3Department of Medical Genetics, School of Medicine, Shiraz University of Medical Sciences, Shiraz, Iran. 4Department of Pediatric Neurology, Golestan Medical, Educational, and Research Center, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran. 5Faculty of Medicine, Students' Scientific Research Center, Tehran University of Medical Sciences, Tehran, Iran. 6Pediatrics Center of Excellence, Department of Pediatric Neurology, Children's Medical Center, Growth and Development Research Center, Tehran University of Medical Sciences, Tehran, Iran. 7Department of Physical Medicine and Rehabilitation, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran. 8Pediatrics Center of Excellence, Department of Pediatric Neurology, Children's Medical Center, Tehran University of Medical Sciences, Bagherkhan St, Tehran, 1419733141, Iran. [email protected]. 9Department of Pediatric Neurology, Vali-e-Asr Hospital, Imam Khomeini Hospital Complex, Tehran University of Medical Sciences, Tehran, Iran. [email protected]. KEYWORDS: Duchenne muscular dystrophy; Dystrophin mutation; Iranian patients; MLPA; NGS PMID: 32436198 DOI:10.1007/s12031-020-01594-9
29. J Clin Pharmacol. 2020 May 20. doi: 10.1002/jcph.1632. [Epub ahead of print] Exposure-Response Analysis of Vamorolone (VBP15) in Boys With Duchenne Muscular Dystrophy. Li X1, Conklin LS2,3, van den Anker J2,3, Hoffman EP2,4, Clemens PR5, Jusko WJ1. 1Department of Pharmaceutical Sciences, University at Buffalo, State University of New York, Buffalo, New York, USA. 2ReveraGen BioPharma, Rockville, Maryland, USA. 3Children's National Hospital, Washington, District of Columbia, USA. 4Binghamton University-SUNY, Binghamton, New York, USA. 5University of Pittsburgh and Department of Veterans Affairs Medical Center, Pittsburgh, Pennsylvania, USA. KEYWORDS: Duchenne muscular dystrophy (DMD); children; exposure-response; glucocorticoids; pharmacodynamics; vamorolone PMID: 32434278 DOI:10.1002/jcph.1632
30. Biol Res. 2020 May 19;53(1):22. doi: 10.1186/s40659-020-00288-1. Engraftment of human induced pluripotent stem cell-derived myogenic progenitors restores dystrophin in mice with duchenne muscular dystrophy. He R1,2, Li H1,2, Wang L1,2, Li Y3, Zhang Y4, Chen M4, Zhu Y5,6, Zhang C7,8. 1Department of Neurology, The First Affiliated Hospital, Sun Yat-sen University, Guangzhou, Guangdong, China. 2Guangdong Provincial Key Laboratory of Diagnosis and Treatment of Major Neurological Diseases, National Key Clinical Department and Key Discipline of Neurology, Guangzhou, Guangdong, China. 3Department of Neurology, The Seventh Affiliated Hospital, Sun Yat-sen University, Shenzhen, Guangdong, China. 4Department of Neurology, The First Affiliated Hospital, Jinan University, Guangzhou, Guangdong, China. 5Department of Neurology, The First Affiliated Hospital, Sun Yat-sen University, Guangzhou, Guangdong, China. [email protected]. 6Guangdong Provincial Key Laboratory of Diagnosis and Treatment of Major Neurological Diseases, National Key Clinical Department and Key Discipline of Neurology, Guangzhou, Guangdong, China. [email protected]. 7Department of Neurology, The First Affiliated Hospital, Sun Yat-sen University, Guangzhou, Guangdong, China. [email protected]. 8Guangdong Provincial Key Laboratory of Diagnosis and Treatment of Major Neurological Diseases, National Key Clinical Department and Key Discipline of Neurology, Guangzhou, Guangdong, China. [email protected]. KEYWORDS: Duchenne muscular dystrophy; Human induced pluripotent stem cells; Muscle regeneration; Myogenic progenitors; Satellite cells PMID: 32430065 DOI:10.1186/s40659-020-00288-1 Free full text
AFM-Téléthon (Service Documentation) – 25/05/2020 10/42
Bibliographie sur les maladies neuromusculaires Bibliography of neuromuscular disorders n° 2020-05-2 du 12 au 24 mai 2020 (May 12 to 24, 2020)
31. Dev Med Child Neurol. 2020 May 19. doi: 10.1111/dmcn.14568. [Epub ahead of print] What are the effects of treatments used to prevent or treat heart complications in Duchenne muscular dystrophy, Becker muscular dystrophy, and X-linked dilated cardiomyopathy? A Cochrane Review summary with commentary. Patrick Engkasan J1, Chan SC1. 1Department of Rehabilitation Medicine, University of Malaya, Kuala Lumpur, Malaysia. Related article (Bourke et al) is in Myobase : http://www.myobase.org/index.php?lvl=notice_display&id=70223 PMID: 32427344 DOI:10.1111/dmcn.14568
32. Eur J Hum Genet. 2020 May 18. doi: 10.1038/s41431-020-0643-7. [Epub ahead of print] EMQN best practice guidelines for genetic testing in dystrophinopathies. Fratter C1,2, Dalgleish R3, Allen SK4, Santos R5, Abbs S6, Tuffery-Giraud S7, Ferlini A8,9. 1Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, Oxford, UK. [email protected]. 2Genomics Quality Assessment (GenQA), Edinburgh, UK. [email protected]. 3Department of Genetics and Genome Biology, University of Leicester, Leicester, UK. 4West Midlands Regional Genetics Laboratory, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK. 5Unidade de Genética Molecular, CGMJM, Centro Hospitalar Universitário do Porto, Porto, Portugal. 6Genetics Laboratories, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK. 7Laboratory of Genetics of Rare Diseases (LGMR), University of Montpellier, Montpellier, France. 8Unit of Medical Genetics, Department of Medical Sciences, University of Ferrara, Ferrara, Italy. 9Dubowitz Neuromuscular Unit, University College London, London, UK. PMID: 32424326 DOI:10.1038/s41431-020-0643-7
33. CPT Pharmacometrics Syst Pharmacol. 2020 May 17. doi: 10.1002/psp4.12518. [Epub ahead of print] Leveraging Quantitative Systems Pharmacology Approach into Development of Human Recombinant Follistatin Fusion Protein for Duchenne Muscular Dystrophy. Nguyen HQ1, Iskenderian A1, Ehmann D1, Jasper P2, Zhang Z2, Rong H3, Welty D4, Narayanan R1. 1Shire HGT Inc., Lexington, MA, US. 2RES Group, Inc, Needham, MA, US. 3Kymera Therapeutics, Cambridge, MA, US. 4Nuventra Pharma Sciences, Research Triangle Park, NC, Durham, US. KEYWORDS: follistatin; model-based drug development; muscular dystrophy; myostatin; quantitative systems pharmacology PMID: 32419339 DOI:10.1002/psp4.12518 Free full text
34. Indian J Pediatr. 2020 May 16. doi: 10.1007/s12098-020-03324-w. [Epub ahead of print] Duchenne Muscular Dystrophy- Where Genetic Testing is Inevitable and Vital! Gupta A1, Kabra M1, Gupta N2. 1Division of Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, 110029, India. 2Division of Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, 110029, India. [email protected]. PMID: 32418184 DOI:10.1007/s12098-020-03324-w
35. J Neuromuscul Dis. 2020 May 15. doi: 10.3233/JND-200483. [Epub ahead of print] Clinical Phenotypes of DMD Exon 51 Skip Equivalent Deletions: A Systematic Review. Waldrop MA1,2, Ben Yaou R3, Lucas KK4, Martin AS5, O'Rourke E4; FILNEMUS, Ferlini A6, Muntoni F7,8, Leturcq F9, Tuffery-Giraud S10, Weiss RB11, Flanigan KM1,2. 1The Center for Gene Therapy, Nationwide Children's Hospital, Columbus, OH, USA. 2Departments of Neurology and Pediatrics, The Ohio State University, Columbus, OH, USA. 3Center of Research in Myology, Sorbonne Université - Inserm UMRS 974; Databases unit; APHP, Nord/Est/Ile-de-France Neuromuscular reference center, Institut de Myologie, Hôpital Pitié-Salpêtrière, Paris, France. 4Sarepta Therapeutics, Inc., Cambridge, MA, USA. 5Parent Project Muscular Dystrophy, Hackensack, NJ, USA. 6U.O. Genetica Medica, Azienda Ospedaliero-Universitaria di Ferrara.
AFM-Téléthon (Service Documentation) – 25/05/2020 11/42
Bibliographie sur les maladies neuromusculaires Bibliography of neuromuscular disorders n° 2020-05-2 du 12 au 24 mai 2020 (May 12 to 24, 2020)
7Dubowitz Neuromuscular Centre, Molecular Neurosciences Section, Developmental Neuroscience Programme, UCL Great Ormond Street Institute of Child Health, London, United Kingdom. 8NIHR Great Ormond Street Hospital Biomedical Research Centre, London, United Kingdom. 9APHP, Laboratoire de Génétique et Biologie Moléculaires, HUPC Hôpital Cochin, Paris, France; Center of Research in Myology, Sorbonne Université - Inserm UMRS 974. 10Université de Montpellier, Laboratoire de Génétique de Maladies Rares, Montpellier, France. 11Department of Human Genetics, The University of Utah, Salt Lake City, UT, USA. KEYWORDS: BMD; DMD; eteplirsen; exon skipping; systematic review PMID: 32417793 DOI:10.3233/JND-200483
36. J Neuromuscul Dis. 2020 May 11. doi: 10.3233/JND-200478. [Epub ahead of print] Assessing Physical Activity Using Accelerometers in Youth with Duchenne Muscular Dystrophy. Arteaga D1, Donnelly T2,3, Crum K4, Markham L5, Killian M6, Burnette WB7, Soslow J4, Buchowski MS2. 1School of Medicine, Vanderbilt University, Nashville, TN, USA. 2Energy Balance Laboratory, Division of Gastroenterology, Hepatology and Nutrition, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA. 3Diabetes Research and Training Center, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA. 4Division of Pediatric Cardiology, Department of Pediatrics, Vanderbilt University Medical Center, Nashville, TN, USA. 5Division of Cardiology, Department of Pediatrics, Riley Hospital for Children at Indiana University Health, Indianapolis, IN, USA. 6Department of Pediatrics, Vanderbilt University Medical Center, Nashville, TN, USA. 7Division of Pediatric Neurology, Department of Pediatrics, Vanderbilt University Medical Center, Nashville, TN, USA. KEYWORDS: Duchenne muscular dystrophy (DMD); accelerometry; ambulation; physical activity PMID: 32417792 DOI:10.3233/JND-200478
37. J Neuromuscul Dis. 2020 May 11. doi: 10.3233/JND-200470. [Epub ahead of print] Rehabilitation Following Fracture in Dystrophinopathy, A Case Series. Glanzman AM1, Jones J1, Thompson CZ1, Pendergast EA1, Beam M1, Hughes AL1, King M2,3, Brandsema J4,3, Horn B5,3. 1Department of Physical Therapy, Children's Hospital of Philadelphia, Philadelphia PA. 2Center for Rehabilitation, Children's Hospital of Philadelphia, Philadelphia PA. 3Perelman School of Medicine at The University of Pennsylvania, Philadelphia PA. 4Division of Neurology, Children's Hospital of Philadelphia, Philadelphia PA. 5Department of Orthopedics, Children's Hospital of Philadelphia, Philadelphia PA. PMID: 32417791 DOI:10.3233/JND-200470
38. Neurol India. 2020 Mar-Apr;68(2):518-521. doi: 10.4103/0028-3886.284351. A symptomatic female patient with duchenne muscular dystrophy gene mutation showing rimmed vacuoles in muscle biopsy. Ban R1, Lu X2, Pu C3, Shi Q3, Wang H4, Liu H3, Zhang Y3, Fang F5. 1Neurological Department of the First Medical Center, Chinese PLA General Hospital; Department of Neurology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, P.R. China. 2Geriatric Neurological Department of the Second Medical Center and National Clinical Research Center for Geriatric Diseases, Chinese PLA General Hospital, P.R. China. 3Neurological Department of the First Medical Center, Chinese PLA General Hospital, P.R. China. 4Neurological Department, First Affiliated Hospital of Shanxi Medical University, P.R. China. 5Department of Neurology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, P.R. China. PMID: 32415039 DOI:10.4103/0028-3886.284351
39. Eur J Health Econ. 2020 May 12. doi: 10.1007/s10198-020-01197-6. [Epub ahead of print] Quantifying the economic impact of caregiving for Duchenne muscular dystrophy (DMD) in Spain. Flores D1, Ribate MP2, Montolio M3, Ramos FJ4, Gómez M2, García CB2. 1Facultad de Ciencias de la Salud, Grado en Farmacia, Universidad San Jorge, Campus Universitario de Villanueva de Gállego Zaragoza, Autovía A-23 Zaragoza-Huesca Km. 299. 50.830 Villanueva de Gállego, Zaragoza, Spain. [email protected]. 2Facultad de Ciencias de la Salud, Grado en Farmacia, Universidad San Jorge, Campus Universitario de Villanueva de Gállego Zaragoza, Autovía A-23 Zaragoza-Huesca Km. 299. 50.830 Villanueva de Gállego, Zaragoza, Spain.
AFM-Téléthon (Service Documentation) – 25/05/2020 12/42
Bibliographie sur les maladies neuromusculaires Bibliography of neuromuscular disorders n° 2020-05-2 du 12 au 24 mai 2020 (May 12 to 24, 2020)
3Scientific Director and Registry Curator, Duchenne Parent Project Spain, Adjunct Professor Department of Cell Biology, Physiology and Immunology, Faculty of Biology, Barcelona University, Avenida Diagonal, 643. 1st floor, Prevosti Building, 08028, Barcelona, Spain. 4Unidad de Genética Clínica, Servicio de Pediatría, Hospital Clínico Universitario "Lozano Blesa"-CIBERER-GCV02, Departmento de Pediatría, Facultad de Medicina, Universidad de Zaragoza, Zaragoza, Spain. KEYWORDS: Caregiver burden; Duchenne muscular dystrophy; Economic impact; TREAT-NMD PMID: 32399780 DOI:10.1007/s10198-020-01197-6
40. Open Heart. 2020 Apr 21;7(1):e001230. doi: 10.1136/openhrt-2019-001230. eCollection 2020. Exploring the acceptability of implantable defibrillators in patients with cardiac dystrophinopathy and carers. Hiermeier UM1, Baker C1, Bourke JP2,3. 1Department of Clinical Health Psychology, Royal Victoria Infirmary, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK. 2Department of Cardiology, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK. 3Institute of Translational and Clinical Research, Newcastle University, Newcastle upon Tyne, Tyne and Wear, UK. KEYWORDS: cardiomyopathy dilated; delivery of care; gene expression; implantable cardioverter defibrillator (ICD); sudden cardiac death PMID: 32399251 PMCID:PMC7204554 DOI:10.1136/openhrt-2019-001230 Free PMC Article
41. J Neuromuscul Dis. 2020 May 6. doi: 10.3233/JND-190454. [Epub ahead of print] Blood-derived biomarkers correlate with clinical progression in Duchenne muscular dystrophy. Strandberg K1, Ayoglu B2, Roos A3,4, Reza M3, Niks E5, Signorelli M6, Fasterius E1, Pontén F7, Lochmüller H3,8,9, Domingos J10, Ala P10, Muntoni F10,11, Aartsma-Rus A3,12, Spitali P12, Nilsson P2, Szigyarto CA1,2. 1Department of Protein Science, School of Chemistry, Biotechnology and Health, KTH-Royal Institute of Technology, Stockholm, Sweden. 2Department of Protein Science, SciLifeLab, Department of Protein Science, KTH-Royal Institute of Technology, Stockholm, Sweden. 3MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK. 4Leibniz-Institut für Analytische Wissenschaften (ISAS), Dortmund, Germany. 5Department of Neurology, Leiden University Medical Center, Leiden, The Netherlands. 6Department of Biomedical Data Sciences, Leiden University Medical Center, Leiden, The Netherlands. 7Department of Immunology, SciLifeLab, Genetics and Pathology, Uppsala University, Uppsala, Sweden. 8Department of Neuropediatrics and Muscle Disorders, Medical Center -University of Freiburg, Faculty of Medicine, Freiburg, Germany. 9Centro Nacional de Análisis Genómico (CNAGCRG), Center for Genomic Regulation, Barcelona Institute of Science and Technology (BIST), Barcelona, Spain. 10The Dubowitz Neuromuscular Centre, UCL Institute of Child Health, London, UK. 11National Institute for Health Research, Great Ormond Street Institute of Child Health, University College London, London WC1N 1EH, United Kingdom. 12Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands. KEYWORDS: Affinity-based proteomics; Duchenne muscular dystrophy; disease progression; protein biomarkers; serum and plasma PMID: 32390640 DOI:10.3233/JND-190454
42. Arch Bronconeumol. 2020 May 7. pii: S0300-2896(20)30091-0. [Epub ahead of print] Metabolic Acidosis Caused by Laxatives in a Patient with Duchenne Muscular Dystrophy Receiving Non-Invasive Mechanical Ventilation. [Article in English, Spanish] Peñacoba P1, Antón A2, Güell MR2. 1Servicio de Neumología, Hospital de la Santa Creu i Sant Pau, Instituto de Investigación Biomédica, Universitat Autònoma de Barcelona, Barcelona, España. Electronic address: [email protected]. 2Servicio de Neumología, Hospital de la Santa Creu i Sant Pau, Instituto de Investigación Biomédica, Universitat Autònoma de Barcelona, Barcelona, España. PMID: 32389379 DOI:10.1016/j.arbres.2020.03.013
AFM-Téléthon (Service Documentation) – 25/05/2020 13/42
Bibliographie sur les maladies neuromusculaires Bibliography of neuromuscular disorders n° 2020-05-2 du 12 au 24 mai 2020 (May 12 to 24, 2020)
Dystrophies musculaires des ceintures – Limb-girdle muscular dystrophies 43. J Electrocardiol. 2020 May 11;60:209-211. doi: 10.1016/j.jelectrocard.2020.05.003. [Epub ahead of print] Pauses in atrial rhythm in a patient with limb-girdle muscular dystrophy: A case report. Miki T1, Shirayama T2, Shiraishi H2, Hirao Y2, Matoba S2. 1Department of Cardiovascular Medicine, Kyoto Prefectural University of Medicine, Kyoto, Japan. Electronic address: t- [email protected]. 2Department of Cardiovascular Medicine, Kyoto Prefectural University of Medicine, Kyoto, Japan. KEYWORDS: Limb-girdle muscular dystrophy; Pause in atrial rhythm; Permanent pacemaker implantation PMID: 32446110 DOI:10.1016/j.jelectrocard.2020.05.003
44. BMC Neurol. 2020 May 19;20(1):196. doi: 10.1186/s12883-020-01774-5. Longitudinal functional and imaging outcome measures in FKRP limb-girdle muscular dystrophy. Leung DG1,2, Bocchieri AE3, Ahlawat S4, Jacobs MA4,5, Parekh VS3,5, Braverman V3, Summerton K6, Mansour J7, Bibat G6, Morris C8, Marraffino S9, Wagner KR6,10,11. 1Center for Genetic Muscle Disorders, Hugo W. Moser Research Institute at Kennedy Krieger Institute, 716 North Broadway, Room 411, Baltimore, MD, 21205, USA. [email protected]. 2Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD, USA. [email protected]. 3Department of Computer Science, Johns Hopkins University, Baltimore, MD, USA. 4Department of Radiology and Radiological Science, Johns Hopkins University School of Medicine, Baltimore, MD, USA. 5The Sidney Kimmel Comprehensive Cancer Center, Johns Hopkins University School of Medicine, Baltimore, MD, USA. 6Center for Genetic Muscle Disorders, Hugo W. Moser Research Institute at Kennedy Krieger Institute, 716 North Broadway, Room 411, Baltimore, MD, 21205, USA. 7Tulane University School of Medicine, New Orleans, LA, USA. 8Solid Biosciences, Cambridge, MA, USA. 9Pfizer, Inc., Cambridge, MA, USA. 10Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD, USA. 11Department of Neuroscience, Johns Hopkins University School of Medicine, Baltimore, MD, USA. KEYWORDS: Biomarkers; Convolutional neural network; Deep learning; FKRP; Limb-girdle muscular dystrophy; Tissue signatures; Whole-body MRI PMID: 32429923 DOI:10.1186/s12883-020-01774-5 Free full text
45. J Clin Invest. 2020 May 19. pii: 136167. doi: 10.1172/JCI136167. [Epub ahead of print] Inhibition of DNAJ-HSP70 interaction improves strength in muscular dystrophy. Bengoechea R1, Findlay AR1, Bhadra AK2, Shao H3, Stein KC4, Pittman SK1, Daw J1, Gestwicki JE3, True HL2, Weihl CC1. 1Department of Neurology, Washington University School of Medicine, St. Louis, United States of America. 2Department of Cell Biology and Physiology, Washington University School of Medicine, St. Louis, United States of America. 3Institute for Neurodegenerative Diseases, University of California San Francisco, San Francisco, United States of America. 4Department of Biology, Stanford University, California, United States of America. KEYWORDS: Cell Biology; Chaperones; Muscle Biology; Protein misfolding; Skeletal muscle PMID: 32427588 DOI:10.1172/JCI136167 Free full text
46. J Neurol Sci. 2020 May 1;414:116875. doi: 10.1016/j.jns.2020.116875. [Epub ahead of print] HNRNPDL-related limb girdle muscular dystrophy in a Spanish family with scapulo-peroneal phenotype, the first family in Europe. Vicente LM1, Martí P2, Azorín I2, Olivé M3, Muelas N2, Vilchez JJ4. 1Neuromuscular Reference Centre ERN EURO-NMD and Research Group on NMD and Ataxias, IIS La Fe and CIBERER, Hospital Universitari i Politècnic La Fe, Avenida Fernando Abril Martorell 106, floor 5, tower C, 46026, Valencia, Spain. Electronic address: [email protected]. 2Neuromuscular Reference Centre ERN EURO-NMD and Research Group on NMD and Ataxias, IIS La Fe and CIBERER, Hospital Universitari i Politècnic La Fe, Avenida Fernando Abril Martorell 106, floor 5, tower C, 46026, Valencia, Spain. 3IDIBELL, Hospital Universitari de Bellvitge, Carrer de la Feixa Llarga, s/n, 08907 L'Hospitalet de Llobregat. Barcelona, Spain. Electronic address: [email protected]. 4Neuromuscular Reference Centre ERN EURO-NMD and Research Group on NMD and Ataxias, IIS La Fe and CIBERER, Hospital Universitari i Politècnic La Fe, Avenida Fernando Abril Martorell 106, floor 5, tower C, 46026, Valencia, Spain. Electronic address: [email protected]. KEYWORDS: HNRNPDL; IBM; Inclusion body myopathies; LGMD D3; Limb girdle muscle dystrophy; Myopathy
AFM-Téléthon (Service Documentation) – 25/05/2020 14/42
Bibliographie sur les maladies neuromusculaires Bibliography of neuromuscular disorders n° 2020-05-2 du 12 au 24 mai 2020 (May 12 to 24, 2020)
PMID: 32407983 DOI:10.1016/j.jns.2020.116875
47. High Throughput. 2020 May 10;9(2). pii: E13. doi: 10.3390/ht9020013. Genetic Counseling and NGS Screening for Recessive LGMD2A Families. Strafella C1,2, Caputo V1,2, Campoli G1, Galota RM1, Mela J1, Zampatti S1, Minozzi G3, Sancricca C4,5, Servidei S4, Giardina E1,2, Cascella R1,6. 1Genomic Medicine Laboratory UILDM, Santa Lucia Foundation, 00179 Rome, Italy. 2Department of Biomedicine and Prevention, Tor Vergata University, 00133 Rome, Italy. 3Department of Veterinary Medicine, University of Milan, 20133 Milan, Italy. 4Fondazione Policlinico Universitario A. Gemelli IRCCS, UOC Neurofisiopatologia, 00168 Rome, Italy. 5Unione Italiana Lotta Distrofia Muscolare (UILDM), Sezione Laziale, 00167 Rome, Italy. 6Department of Biomedical Sciences, Catholic University Our Lady of Good Counsel, 1000 Tirana, Albania. KEYWORDS: CAPN3; LGMD2A; data analysis; family history; genetic counseling; next-generation sequencing; recurrence/reproductive risk PMID: 32397577 DOI:10.3390/ht9020013 Free full text
48. Clin Chim Acta. 2020 May 7;508:28-32. doi: 10.1016/j.cca.2020.05.011. [Epub ahead of print] Coexistence of digenic mutations in the collagen VI genes (COL6A1 and COL6A3) leads to Bethlem myopathy. Choi E1, Shin S2, Lee S1, Lee SJ3, Park J4. 1Department of Physical Medicine and Rehabilitation, College of Medicine, The Catholic University of Korea, Seoul, Republic of Korea. 2Department of Laboratory Medicine, College of Medicine, The Catholic University of Korea, Seoul, Republic of Korea. 3Department of Physical Medicine and Rehabilitation, College of Medicine, The Catholic University of Korea, Seoul, Republic of Korea. Electronic address: [email protected]. 4Department of Laboratory Medicine, College of Medicine, The Catholic University of Korea, Seoul, Republic of Korea. Electronic address: [email protected]. KEYWORDS: Bethlem myopathy; COL6A1 gene; COL6A3 gene; Digenic mutation; Whole exome sequencing PMID: 32389683 DOI:10.1016/j.cca.2020.05.011
Dysferlinopathies – Dysferlinopathies 49. Hum Mutat. 2020 May 12. doi: 10.1002/humu.24036. [Epub ahead of print] The genetic profile of dysferlinopathy in a cohort of 209 cases: genotype-phenotype relationship and a hotspot on the inner DysF domain. Izumi R1,2, Takahashi T3, Suzuki N1, Niihori T2, Ono H1,4, Nakamura N1, Katada S5, Kato M1, Warita H1, Tateyama M1,4, Aoki Y2, Aoki M1. 1Departments of Neurology, Tohoku University Graduate School of Medicine, Sendai, Japan. 2Departments of Medical Genetics, Tohoku University Graduate School of Medicine, Sendai, Japan. 3Department of Neurology, National Hospital Organization Sendai-Nishitaga Hospital, Sendai, Japan. 4Departments of Neurology, National Hospital Organization Iwate Hospital, Ichinoseki, Japan. 5Department of Neurology, Brain Research Institute, Niigata University, Niigata, Japan. KEYWORDS: Miyoshi muscular dystrophy; arginine and tryptophan (R/W) stacking; dysferlin; inner DysF domain; limb- girdle muscular dystrophy type 2B; next generation sequencing PMID: 32400077 DOI:10.1002/humu.24036
Dystroglycanopathies – Dystroglycanopathies 50. Dis Model Mech. 2020 May 17. pii: dmm.042986. doi: 10.1242/dmm.042986. [Epub ahead of print] Human embryoid bodies as a 3D tissue model of the extracellular matrix and α-dystroglycanopathies. Nickolls AR1,2, Lee MM1, Zukosky K1,2, Mallon BS1, Bönnemann CG3. 1National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA. 2Department of Neuroscience, Brown University, Providence, RI 02912, USA. 3National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA [email protected]. KEYWORDS: Dystroglycan; Extracellular matrix; Muscular dystrophy; Stem cells PMID: 32423971 DOI:10.1242/dmm.042986 Free full text
AFM-Téléthon (Service Documentation) – 25/05/2020 15/42
Bibliographie sur les maladies neuromusculaires Bibliography of neuromuscular disorders n° 2020-05-2 du 12 au 24 mai 2020 (May 12 to 24, 2020)
Dystrophies myotoniques – Myotonic dystrophies 51. PLoS One. 2020 May 14;15(5):e0224912. doi: 10.1371/journal.pone.0224912. eCollection 2020. Differences in splicing defects between the grey and white matter in myotonic dystrophy type 1 patients. Nishi M1, Kimura T1, Igeta M2, Furuta M3, Suenaga K1,4, Matsumura T5, Fujimura H5, Jinnai K6, Yoshikawa H1. 1Department of Internal Medicine Division of Neurology, Hyogo College of Medicine, Nishinomiya, Japan. 2Department of Biostatistics, Hyogo College of Medicine, Nishinomiya, Japan. 3Department of Neurology, Japan Organization of Occupational Health and Safety Kan-sai Rosai Hospital, Osaka, Japan. 4Department of Internal Medicine, Japan Self Defense Force Hanshin Hospital, Kawanishi, Japan. 5Department of Neurology, National Hospital Organization Toneyama Hospital, Toyonaka, Japan. 6Department of Neurology, National Hospital Organization Hyogo-Chuo Hospital, Sanda, Japan. PMID: 32407311 DOI:10.1371/journal.pone.0224912 Free full text
52. Hum Mol Genet. 2020 May 15. pii: ddaa095. doi: 10.1093/hmg/ddaa095. [Epub ahead of print] Increased nuclear but not cytoplasmic activities of CELF1 protein leads to muscle wasting. Cox DC1,2, Guan X3, Xia Z3,4, Cooper TA1,5,6. 1Department of Pathology & Immunology. 2Department of Biochemistry & Molecular Biology. 3Computational Biology Program. 4Department of Molecular Microbiology and Immunology, Oregon Health & Science University, Portland, OR, 97239 USA. 5Department of Molecular Physiology & Biophysics. 6Department of Molecular & Cellular Biology, Baylor College of Medicine, One Baylor Plaza, Houston TX, 77030 USA. PMID: 32412585 DOI:10.1093/hmg/ddaa095
Laminopathies – Laminopathies 53. FASEB J. 2020 May 15. doi: 10.1096/fj.202000500R. [Epub ahead of print] Genotype-phenotype analysis of LMNA-related diseases predicts phenotype-selective alterations in lamin phosphorylation. Lin EW1,2, Brady GF1,2, Kwan R1,3, Nesvizhskii AI4,5, Omary MB1,2,3. 1Department of Molecular and Integrative Physiology, University of Michigan, Ann Arbor, MI, USA. 2Department of Internal Medicine, University of Michigan, Ann Arbor, MI, USA. 3Center for Advanced Biotechnology and Medicine, Rutgers University, Piscataway, NJ, USA. 4Department of Computational Medicine and Bioinformatics, University of Michigan, Ann Arbor, MI, USA. 5Department of Pathology, University of Michigan, Ann Arbor, MI, USA. KEYWORDS: intermediate filaments; laminopathy; mutation; post-translational modifications PMID: 32413188 DOI:10.1096/fj.202000500R
Maladie de Charcot-Marie-Tooth – Charcot-Marie-Tooth disease 54. J Neuroophthalmol. 2020 Apr 16. doi: 10.1097/WNO.0000000000000965. [Epub ahead of print] Optic Neuropathy in Charcot-Marie-Tooth Disease. Hamedani AG1, Wilson JA, Avery RA, Scherer SS. 1Department of Neurology (AGH, JAW, RAA, SSS), Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania; Translational Center of Excellence for Neuroepidemiology and Neurology Outcomes Research (AGH), University of Pennsylvania, Philadelphia, Pennsylvania; Center for Clinical Epidemiology and Biostatistics (AGH), University of Pennsylvania, Philadelphia, Pennsylvania; Department of Ophthalmology (RAA), Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania; and Division of Ophthalmology (RAA), Children's Hospital of Philadelphia, Philadelphia, Pennsylvania. PMID: 32441898 DOI:10.1097/WNO.0000000000000965
AFM-Téléthon (Service Documentation) – 25/05/2020 16/42
Bibliographie sur les maladies neuromusculaires Bibliography of neuromuscular disorders n° 2020-05-2 du 12 au 24 mai 2020 (May 12 to 24, 2020)
55. J Peripher Nerv Syst. 2020 May 15. doi: 10.1111/jns.12386. [Epub ahead of print] A novel homozygous variant extending the peripheral myelin protein 22 by 9 AMino acids causes early-onset Charcot-Marie-Tooth disease with predominant severe sensory ataxia. Zambon AA1, Pitt M2, Laurà M3, Polke JM3, Reilly MM3, Muntoni F1,4. 1Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health & Great Ormond Street Hospital, London, UK. 2Department of Clinical Neurophysiology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK. 3MRC Centre for Neuromuscular Diseases, National Hospital for Neurology and Neurosurgery and UCL Queen Square Institute of Neurology, London, UK. 4NIHR Great Ormond Street Hospital Biomedical Research Centre, Great Ormond Street Institute of Child Health, University College London, & Great Ormond Street Hospital Trust, London, UK. KEYWORDS: CMT; Dejerine Sottas; PMP22; ataxia; early-onset neuropathy; loss-of-function PMID: 32412171 DOI:10.1111/jns.12386
56. Eur J Neurol. 2020 May 13. doi: 10.1111/ene.14317. [Epub ahead of print] Pregnancy outcome in Charcot-Marie-Tooth disease: results of the CMT-NET cohort study in Germany. Rudnik-Schöneborn S1, Thiele S2, Walter MC2, Reinecke L3, Sereda M3,4, Schöneborn R1, Elbracht M5. 1Institute for Human Genetics, Medical University Innsbruck, Innsbruck, Austria. 2Friedrich-Baur-Institute, Dept. of Neurology, Ludwigs-Maximilian University of Munich, Munich, Germany. 3Department of Clinical Neurophysiology, University Medical Centre Göttingen, Göttingen, Germany. 4Department of Neurogenetics, Max-Planck-Institute of Experimental Medicine, Göttingen, Germany. 5Institute of Human Genetics, Medical Faculty, RWTH Aachen University, Aachen, Germany. KEYWORDS: Charcot-Marie-Tooth (CMT) disease; delivery; influence on disease; neonatal outcome; personal attitude; pregnancy PMID: 32400062 DOI:10.1111/ene.14317
57. J Peripher Nerv Syst. 2020 May 11. doi: 10.1111/jns.12383. [Epub ahead of print] Validation of the Italian Version of the Charcot-Marie-Tooth disease Pediatric Scale. Zuccarino R1,2, Prada V3, Moroni I4, Pagliano E4, Foscan M4, Robbiano G3, Pisciotta C4, Cornett K5, Shy R1, Schenone A3, Pareyson D4, Shy ME1, Burns J5. 1Department of Neurology, University of Iowa Carver College of Medicine, Iowa City, IA, USA. 2Neuromuscular Omnicentre (NEMO)-Fondazione Serena Onlus, Via del Giappone 3, Genoa, Italy. 3Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics and Maternal/Child Sciences, University of Genova and IRCCS San Martino, Genoa, Italy. 4Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy. 5University of Sydney School of Health Sciences & Children's Hospital at Westmead, Sydney, New South Wales, Australia. KEYWORDS: CMTPedS; Charcot-Marie-Tooth disease; Clinical Outcome Assessment; Outcome Measures; Translation PMID: 32394473 DOI:10.1111/jns.12383
58. Eur J Neurol. 2020 May 11. doi: 10.1111/ene.14303. [Epub ahead of print] Quantitative assessment of sciatic nerve changes in CMT1A patients using magnetic resonance neurography. Fortanier E1, Ogier AC2,3, Delmont E1,4, Lefebvre MN5, Viout P2, Guye M2, Bendahan D2, Attarian S1,6. 1APHM, Neurology Department, Reference Center for Neuromuscular Diseases and ALS, La Timone University Hospital, Aix-Marseille University, Marseille, France. 2Aix-Marseille University, CNRS, Center for Magnetic Resonance in Biology and Medicine, UMR CNRS 7339, Marseille, France. 3Aix Marseille Univ, Université de Toulon, CNRS, LIS, Marseille, France. 4Aix-Marseille University, UMR 7286, Marseille, France. 5APHM, CIC-CPCET, La Timone University Hospital, Aix-Marseille University, Marseille, France. 6Aix-Marseille University, Inserm, GMGF, Marseille, France. PMID: 32391944 DOI:10.1111/ene.14303
AFM-Téléthon (Service Documentation) – 25/05/2020 17/42
Bibliographie sur les maladies neuromusculaires Bibliography of neuromuscular disorders n° 2020-05-2 du 12 au 24 mai 2020 (May 12 to 24, 2020)
59. J Am Soc Nephrol. 2020 May 22. pii: ASN.2019111174. [Epub ahead of print] A Deregulated Stress Response Underlies Distinct INF2-Associated Disease Profiles. Bayraktar S1,2, Nehrig J1, Menis E1, Karli K3, Janning A1, Struk T2, Halbritter J4, Michgehl U2, Krahn MP3, Schuberth CE1, Pavenstädt H2, Wedlich-Söldner R5. 1Institute of Cell Dynamics and Imaging and Cells in Motion Interfaculty Centre, University of Münster, Münster, Germany. 2Internal Medicine D, University Hospital Münster, Münster, Germany. 3Medical Cell Biology, Internal Medicine D, University Hospital Münster, Münster, Germany. 4Division of Nephrology, University of Leipzig, Leipzig, Germany. 5Institute of Cell Dynamics and Imaging and Cells in Motion Interfaculty Centre, University of Münster, Münster, Germany [email protected]. KEYWORDS: CaAR; INF2; actin; focal segmental glomerulosclerosis; imaging PMID: 32444357 DOI:10.1681/ASN.2019111174
60. GeneReviews® [Internet]. 2005 Feb 18 [updated 2020 May 14]. MFN2 Hereditary Motor and Sensory Neuropathy. Züchner S1. Myobase link : http://www.myobase.org/index.php?lvl=notice_display&id=57593 PMID: 20301684 Free Books & DocumentsFree full text
GeneReviews®Free full text
61. GeneReviews® [Internet]. 1998 Sep 28 [updated 2020 May 14]. Charcot-Marie-Tooth (CMT) Hereditary Neuropathy Overview. Bird TD1. 14 May 2020 (tb) Revision: SORD added to Table 4 [Cortese et al 2020] Myobase link : http://www.myobase.org/index.php?lvl=notice_display&id=69456 PMID: 20301532 Free Books & DocumentsFree full text
GeneReviews®Free full text
Myasthénie autoimmune – Myasthenia gravis 62. J Neuromuscul Dis. 2020 May 22. doi: 10.3233/JND-190464. [Epub ahead of print] Retrospective Analysis of Eculizumab in Patients with Acetylcholine Receptor Antibody-Negative Myasthenia Gravis: A Case Series. Datta S1, Singh S1, Govindarajan R1. 1University of Missouri Health Care, Columbia, MO, USA. KEYWORDS: ACh receptors; Myasthenia gravis; activities of daily living; complement inactivating agents; corticosteroids; neuromuscular junction PMID: 32444555 DOI:10.3233/JND-190464
63. Ther Adv Neurol Disord. 2020 May 6;13:1756286420911784. eCollection 2020. Response to eculizumab in patients with myasthenia gravis recently treated with chronic IVIg: a subgroup analysis of REGAIN and its open-label extension study. Jacob S1, Murai H2, Utsugisawa K3, Nowak RJ4, Wiendl H5, Fujita KP6, O'Brien F7, Howard JF Jr8. 1Queen Elizabeth Neuroscience Centre and Wellcome Trust Clinical Research Facility, University Hospitals Birmingham NHS Foundation Trust, Mindelsohn Way, Edgbaston, Birmingham, B15 2WB, UK. 2Department of Neurology, International University of Health and Welfare, Narita, Japan. 3Department of Neurology, Hanamaki General Hospital, Hanamaki, Japan. 4Department of Neurology, Yale University School of Medicine, New Haven, CT, USA. 5Department of Neurology, University of Münster, Münster, Germany. 6Alnylam Pharmaceuticals, Cambridge, MA, USA. 7Alexion Pharmaceuticals, Boston, MA, USA. 8Department of Neurology, University of North Carolina, Chapel Hill, NC, USA. KEYWORDS: IVIg; REGAIN; eculizumab; intravenous immunoglobulin; myasthenia gravis PMID: 32426038 PMCID:PMC7222230 DOI:10.1177/1756286420911784 Free PMC Article
AFM-Téléthon (Service Documentation) – 25/05/2020 18/42
Bibliographie sur les maladies neuromusculaires Bibliography of neuromuscular disorders n° 2020-05-2 du 12 au 24 mai 2020 (May 12 to 24, 2020)
64. Am J Case Rep. 2020 May 17;21:e921431. doi: 10.12659/AJCR.921431. Successful Transition from Plasma Exchange to Eculizumab in Acetylcholine Receptor Antibody- and Muscle-Specific Kinase (MuSK) Antibody-Negative Myasthenia Gravis: A Case Report. Greenwood GT1, Lynch Z1. 1Nephrology Section, Forsyth Medical Center, Winston-Salem, NC, USA. PMID: 32417849 DOI:10.12659/AJCR.921431
65. J Pediatr Surg. 2020 Apr 25. pii: S0022-3468(20)30270-0. [Epub ahead of print] Difficulties classifying myasthenia gravis in the pediatric surgical literature. Goldstein SD1, Kuntz NL2. 1Ann & Robert H. Lurie Children's Hospital of Chicago, 225 E. Chicago Avenue, Box 63, Chicago, IL 60611-2605; Northwestern University Feinberg School of Medicine, 225 E. Chicago Avenue, Box 63, Chicago, IL 60611-2605. Electronic address: [email protected]. 2Mazza Foundation Neuromuscular Disorders Program, 225 East Chicago Avenue, Box 51, Chicago, IL 60611-2605; Ann & Robert H. Lurie Children's Hospital of Chicago, 225 E. Chicago Avenue, Box 63, Chicago, IL 60611-2605; Northwestern University Feinberg School of Medicine, 225 E. Chicago Avenue, Box 63, Chicago, IL 60611-2605. PMID: 32444173 DOI:10.1016/j.jpedsurg.2020.03.033
66. Muscle Nerve. 2020 May 23. doi: 10.1002/mus.26984. [Epub ahead of print] ATM Mutation in a Patient with Thymoma Associated Myasthenia Gravis. Yuen C1, Soliven B1, Rezania K1. 1Department of Neurology, University of Chicago Medical Center. KEYWORDS: IVIg; anti-acetylcholine receptor antibody; gene mutation; myasthenia gravis; thymoma PMID: 32445285 DOI:10.1002/mus.26984
67. Mult Scler Relat Disord. 2020 May 13;43:102173. doi: 10.1016/j.msard.2020.102173. [Epub ahead of print] Neuromyelitis optica in patients with myasthenia gravis: Two case-reports. Castro-Suarez S1, Guevara-Silva E2, Caparó-Zamalloa C3, Cortez J3, Meza-Vega M3. 1Basic Research Center in Dementias and Central Nervous System Demyelinating Diseases, Instituto Nacional de Ciencias Neurológicas, 1271 Ancash Street, Lima 15003. Perú; Atlantic Fellow, Global Brain Health Institute, University of California, San Francisco, CA, USA. 2Basic Research Center in Dementias and Central Nervous System Demyelinating Diseases, Instituto Nacional de Ciencias Neurológicas, 1271 Ancash Street, Lima 15003. Perú. Electronic address: [email protected]. 3Basic Research Center in Dementias and Central Nervous System Demyelinating Diseases, Instituto Nacional de Ciencias Neurológicas, 1271 Ancash Street, Lima 15003. Perú. KEYWORDS: Neuromyelitis optica spectrum disorder; acetylcholine receptor antibody; aquaporin-4 antibody; myasthenia gravis; neuromyelitis optica PMID: 32442888 DOI:10.1016/j.msard.2020.102173
68. Clin Neurol Neurosurg. 2020 May 15;195:105923. doi: 10.1016/j.clineuro.2020.105923. [Epub ahead of print] Idiopathic CD4 lymphocytopenia in neurological disorders. Gupta D1, Mehta A2, Shetty N3, R P1, Javali M1, T Acharya P1, Srinivasa R1. 1Department of Neurology, Institute of Neurosciences, Ramaiah Medical College & Hospital, Bangalore-560054, Karnataka, India. 2Department of Neurology, Institute of Neurosciences, Ramaiah Medical College & Hospital, Bangalore-560054, Karnataka, India. Electronic address: [email protected]. 3Kasturba Medical College, Manipal, India. KEYWORDS: Idiopathic CD4(+)lymphocytopenia; Myasthenia gravis; Progressive multifocal leukoencephalopathy; Sensorimotor neuropathy PMID: 32442803 DOI:10.1016/j.clineuro.2020.105923
69. Gene. 2020 May 19:144774. doi: 10.1016/j.gene.2020.144774. [Epub ahead of print] Investigation of GHSR methylation levels in thymomas from patients with Myasthenia Gravis. Coppedè F1, Stoccoro A2, Nicolì V2, Gallo R2, De Rosa A3, Guida M3, Maestri M3, Lucchi M4, Ricciardi R5, Migliore L6. 1Department of Translational Research and of New Surgical and Medical Technologies, Lab. of Medical Genetics, University of Pisa, Medical School, Via Roma 55, 56126 Pisa, Italy. Electronic address: [email protected]. 2Department of Translational Research and of New Surgical and Medical Technologies, Lab. of Medical Genetics, University of Pisa, Medical School, Via Roma 55, 56126 Pisa, Italy. 3Department of Clinical and Experimental Medicine, Neurology Unit, University of Pisa, Pisa, Italy. 4Division of Thoracic Surgery, Cardiothoracic and Vascular Surgery Department, Pisa University Hospital, Pisa, Italy; Department of Surgical, Medical and Molecular Pathology and Critical Care Medicine, University of Pisa, Pisa, Italy.
AFM-Téléthon (Service Documentation) – 25/05/2020 19/42
Bibliographie sur les maladies neuromusculaires Bibliography of neuromuscular disorders n° 2020-05-2 du 12 au 24 mai 2020 (May 12 to 24, 2020)
5Department of Clinical and Experimental Medicine, Neurology Unit, University of Pisa, Pisa, Italy; Division of Thoracic Surgery, Cardiothoracic and Vascular Surgery Department, Pisa University Hospital, Pisa, Italy. 6Department of Translational Research and of New Surgical and Medical Technologies, Lab. of Medical Genetics, University of Pisa, Medical School, Via Roma 55, 56126 Pisa, Italy; Department of Laboratory Medicine, Pisa University Hospital, Pisa, Italy. KEYWORDS: DNA methylation; GHSR; Myasthenia Gravis; cancer; epigenetics; thymoma PMID: 32442579 DOI:10.1016/j.gene.2020.144774
70. Adv Sci (Weinh). 2020 May 20;7(10):2001296. doi: 10.1002/advs.202001296. eCollection 2020 May. Erratum: Perturbed Microbial Ecology in Myasthenia Gravis: Evidence from the Gut Microbiome and Fecal Metabolome. Zheng P, Li Y, Wu J, Zhang H, Huang Y, Tan X, Pan J, Duan J, Liang W, Yin B, Deng F, Perry SW, Wong ML, Licinio J, Wei H, Yu G, Xie P. Erratum for Perturbed Microbial Ecology in Myasthenia Gravis: Evidence from the Gut Microbiome and Fecal Metabolome. [Adv Sci (Weinh). 2019]. Myobase link: http://www.myobase.org/index.php?lvl=notice_display&id=68634 PMID: 32440491 PMCID: PMC7237836 DOI:10.1002/advs.202001296
71. Clin Immunol. 2020 May 10:108462. doi: 10.1016/j.clim.2020.108462. [Epub ahead of print] Quantitative features and clinical significance of two subpopulations of AChR-specific CD4+ T cells in patients with myasthenia gravis. Liu X1, Ma Q1, Qiu L1, Ou C1, Lin Z1, Lu Y1, Huang H1, Chen P1, Huang Z1, Liu W2. 1Department of Neurology, The First Affiliated Hospital, Sun Yat-sen University, Guangdong Provincial Key Laboratory of Diagnosis and Treatment of Major Neurological Diseases, National Key Clinical Department and Key Discipline of Neurology, No.58 Zhongshan Road 2, Guangzhou 510080, China. 2Department of Neurology, The First Affiliated Hospital, Sun Yat-sen University, Guangdong Provincial Key Laboratory of Diagnosis and Treatment of Major Neurological Diseases, National Key Clinical Department and Key Discipline of Neurology, No.58 Zhongshan Road 2, Guangzhou 510080, China. Electronic address: [email protected]. KEYWORDS: AChR-specific T cells; Myasthenia gravis; Th1 cells; Th17 cells PMID: 32437925 DOI:10.1016/j.clim.2020.108462
72. Front Immunol. 2020 May 6;11:782. doi: 10.3389/fimmu.2020.00782. eCollection 2020. Comparative Analysis of Thymic and Blood Treg in Myasthenia Gravis: Thymic Epithelial Cells Contribute to Thymic Immunoregulatory Defects. Truffault F1, Nazzal D1, Verdier J1, Gradolatto A1, Fadel E2, Roussin R2, Eymard B3, Le Panse R1, Berrih-Aknin S1. 1Sorbonne Université, INSERM, Institut de Myologie, Centre de Recherche en Myologie, Paris, France. 2Marie Lannelongue Hospital, Le Plessis-Robinson, France. 3AP-HP, Referral Center for Neuromuscular Disorders, Pitié-Salpêtrière Hospital, Institute of Myology, Paris, France. KEYWORDS: CD31; PBMC; TSLP; Treg; immune regulation; myasthenia gravis; thymic epithelial cells; thymus PMID: 32435245 PMCID:PMC7218102 DOI:10.3389/fimmu.2020.00782 Free PMC Article
73. Front Immunol. 2020 May 5;11:613. doi: 10.3389/fimmu.2020.00613. eCollection 2020. Long-Lasting Rituximab-Induced Reduction of Specific-But Not Total-IgG4 in MuSK-Positive Myasthenia Gravis. Marino M1,2, Basile U3, Spagni G4,5, Napodano C6,7, Iorio R5, Gulli F8, Todi L1,2, Provenzano C1,2, Bartoccioni E1,2, Evoli A4,5. 1Istituto di Patologia Generale, Università Cattolica del Sacro Cuore, Rome, Italy. 2Fondazione Policlinico Universitario "A. Gemelli" IRCCS, Rome, Italy. 3Area Diagnostica di Laboratorio, Fondazione Policlinico Universitario "A. Gemelli" IRCCS, Rome, Italy. 4Istituto di Neurologia, Università Cattolica del Sacro Cuore, Rome, Italy. 5Dipartimento di Neuroscienze, Fondazione Policlinico Universitario "A. Gemelli" IRCCS, Rome, Italy. 6Istituto di Medicina Interna, Università Cattolica del Sacro Cuore, Rome, Italy. 7Area di Gastroenterologia e Oncologia Medica, Fondazione Policlinico Universitario "A. Gemelli" IRCCS, Rome, Italy. 8Dipartimento di Medicina di Laboratorio, Ospedale Madre Giuseppina Vannini, Rome, Italy. KEYWORDS: IgG4; MuSK; antibodies; myasthenia gravis; plasma cells; plasmablasts; rituximab; short-lived antibody- secreting cells PMID: 32431692 PMCID:PMC7214629 DOI:10.3389/fimmu.2020.00613 Free PMC Article
AFM-Téléthon (Service Documentation) – 25/05/2020 20/42
Bibliographie sur les maladies neuromusculaires Bibliography of neuromuscular disorders n° 2020-05-2 du 12 au 24 mai 2020 (May 12 to 24, 2020)
74. Int J Mol Sci. 2020 May 14;21(10). pii: E3483. doi: 10.3390/ijms21103483. Overview of Dual-Acting Drug Methotrexate in Different Neurological Diseases, Autoimmune Pathologies and Cancers. Koźmiński P1, Halik PK1, Chesori R1, Gniazdowska E1. 1Centre of Radiochemistry and Nuclear Chemistry, Institute of Nuclear Chemistry and Technology, Dorodna 16, 03-195 Warsaw, Poland. KEYWORDS: Alzheimer’s disease; anticancer drug; disease modifying anti-rheumatic drug; immunosuppressive drug; methotrexate; myasthenia gravis PMID: 32423175 DOI:10.3390/ijms21103483 Free full text
75. Int J Neurosci. 2020 May 18:1-10. doi: 10.1080/00207454.2020.1759587. [Epub ahead of print] Suppression of the CD28/B7 pathway reduces the occurrence and development of myasthenia gravis and cytokine levels. Xue ZX1, Gao YS2, Wu XL3. 1Hebei Key Laboratory of Neuropharmacology, Department of Pharmacology, Hebei North University, Zhangjiakou, P. R. China. 2Department of Thoracic-Cardiac Surgery, The First Affiliated Hospital of Hebei North University, Zhangjiakou, P. R. China. 3Department of Vascular Surgery, The First Affiliated Hospital of Hebei North University, Zhangjiakou, P. R. China. KEYWORDS: AChR; CD28/B7 pathway; CTLA4-Ig; Cytokine expression; EAMG; Lymphocyte proliferation; Myasthenia gravis PMID: 32419569 DOI:10.1080/00207454.2020.1759587
76. Optom Vis Sci. 2020 May;97(5):377-382. doi: 10.1097/OPX.0000000000001512. Pseudopartial Third Nerve Palsy as the Presenting Sign of Ocular Myasthenia Gravis. Bertolet AN, Druckenbrod RC1. 1Department of Optometry, VA Boston Healthcare System, Boston, Massachusetts. PMID: 32413010 DOI:10.1097/OPX.0000000000001512
77. Neuroophthalmology. 2019 Oct 9;44(3):148-156. doi: 10.1080/01658107.2019.1660686. eCollection 2020 Jun. Preliminary Findings of a Dedicated Ocular Myasthenia Gravis Rating Scale: The OMGRate. Wong SH1, Eggenberger E2, Cornblath W3, Xhepa A1, Miranda E1, Lee H1, Burke A1, Barnett C4,5. 1Department of Neuro-ophthalmology, Moorfields Eye Hospital, London, UK. 2Department of Neuro-ophthalmology, Mayo Clinic Jacksonville, Jacksonville, FL, USA. 3Department of Neuro-ophthalmology, University of Michigan, Ann Arbor, MI, USA. 4Department of Medicine, Neurology, University Health Network and University of Toronto, Toronto, Canada. 5Institute of Health Policy, Management and Evaluation, Dalla Lana School of Public Health, University of Toronto, Toronto, Canada. KEYWORDS: Ocular myasthenia gravis; myasthenia gravis; rating scales; severity PMID: 32395166 PMCID:PMC7202437 [Available on 2020-10-09] DOI: 10.1080/01658107.2019.1660686
78. BMJ Case Rep. 2020 May 13;13(5). pii: e232920. doi: 10.1136/bcr-2019-232920. Immune checkpoint inhibitor-mediated myasthenia gravis with focal subclinical myocarditis progressing to symptomatic cardiac disease. Leaver PJ1,2, Jang HS3, Vernon ST2,4,5, Fernando SL3,5. 1Department of Clinical Immunology and Allergy, Royal North Shore Hospital, Sydney, New South Wales, Australia [email protected]. 2Department of Cardiology, Royal North Shore Hospital, Sydney, New South Wales, Australia. 3Department of Clinical Immunology and Allergy, Royal North Shore Hospital, Sydney, New South Wales, Australia. 4Cardiothoracic and Vascular Health, Kolling Institute of Medical Research, Northern Sydney Local Health District, New South Wales, Australia. 5Northern Clinical School, The University of Sydney, Sydney, New South Wales, Australia. KEYWORDS: heart failure; malignant disease and immunosuppression; radiology (diagnostics); skin cancer; unwanted effects / adverse reactions PMID: 32404371 DOI:10.1136/bcr-2019-232920
AFM-Téléthon (Service Documentation) – 25/05/2020 21/42
Bibliographie sur les maladies neuromusculaires Bibliography of neuromuscular disorders n° 2020-05-2 du 12 au 24 mai 2020 (May 12 to 24, 2020)
79. J Thorac Dis. 2020 Apr;12(4):1529-1539. doi: 10.21037/jtd.2020.03.43. Perioperative outcomes and mid-term effects in performing video-assisted thoracoscopic extended thymectomy for myasthenia gravis: subxiphoid versus right thoracic approaches. Qiu Z1, Chen L1, Lin Q1, Wu H1, Sun H1, Zhou X1, Hu Y1, Peng L1, Liu Y1, Xu Q1. 1Department of Cardiothoracic Surgery, Jiangxi Provincial People's Hospital Affiliated to Nanchang University, Nanchang 330006, China. KEYWORDS: Myasthenia gravis (MG); extended thymectomy; subxiphoid PMID: 32395290 PMCID:PMC7212138 DOI:10.21037/jtd.2020.03.43 Free PMC Article
80. Semin Thorac Cardiovasc Surg. 2020 May 17. pii: S1043-0679(20)30129-5. [Epub ahead of print] Commentary: Robotic-Re-Thymectomy: A Surgical Effective Chance To Treat Refractory Myasthenia Gravis. Filosso PL1, Lyberis P2, Guerrera F2, Ruffini E2. 1University of Torino Italy, Department of Surgical Sciences Unit of Thoracic Surgery, Corso Dogliotti, 14 10126, Torino, ITALY. Electronic address: [email protected]. 2University of Torino Italy, Department of Surgical Sciences Unit of Thoracic Surgery, Corso Dogliotti, 14 10126, Torino, ITALY. PMID: 32433988 DOI:10.1053/j.semtcvs.2020.05.005
81. Front Genet. 2020 Apr 24;11:393. doi: 10.3389/fgene.2020.00393. eCollection 2020. Shared Regulatory Pathways Reveal Novel Genetic Correlations Between Grip Strength and Neuromuscular Disorders. Gokuladhas S1, Schierding W1, Cameron-Smith D1,2, Wake M3, Scotter EL4,5, O'Sullivan J1. 1Liggins Institute, The University of Auckland, Auckland, New Zealand. 2Singapore Institute for Clinical Sciences, Agency for Science, Technology and Research (A STAR), Singapore, Singapore. 3Murdoch Children's Research Institute, The University of Melbourne, Parkville, VIC, Australia.∗ 4Department of Pharmacology and Clinical Pharmacology, The University of Auckland, Auckland, New Zealand. 5Centre for Brain Research, The University of Auckland, Auckland, New Zealand. KEYWORDS: amyotrophic lateral sclerosis; axon guidance pathway; multiple sclerosis; muscle weakness; myasthenia gravis; neuromuscular disorders PMID: 32391060 PMCID:PMC7194178 DOI:10.3389/fgene.2020.00393 Free PMC Article
Myopathies congénitales – Congenital myopathies 82. Neurol Genet. 2020 Apr 13;6(3):e423. doi: 10.1212/NXG.0000000000000423. eCollection 2020 Jun. Biallelic LINE insertion mutation in HACD1 causing congenital myopathy. Al Amrani F1, Gorodetsky C1, Hazrati LN1, Amburgey K1, Gonorazky HD1, Dowling JJ1. 1Division of Neurology (F.A.A., C.G., K.A., H.D.G., J.J.D.), Hospital for Sick Children; Department of Pathology and Laboratory Medicine (L.-N.H.), Hospital for Sick Children; and Department of Pediatrics and Molecular Genetics (J.J.D.), University of Toronto, Ontario, Canada. PMID: 32426512 PMCID:PMC7188472 DOI:10.1212/NXG.0000000000000423 Free PMC Article
83. Neuromuscul Disord. 2020 Mar 5. pii: S0960-8966(20)30062-6. [Epub ahead of print] A mutation in MTM1 causes X-Linked myotubular myopathy in Boykin spaniels. Olby NJ1, Friedenberg S2, Meurs K3, DeProspero D4, Guevar J4, Lau J4, Yost O4, Guo LT5, Shelton GD5. 1Department of Clinical Sciences, College of Veterinary Medicine, North Carolina State University, 1060 William Moore Dr, Raleigh, NC 27607, USA; Comparative Medicine Institute, North Carolina State University, Raleigh, NC, USA. Electronic address: [email protected]. 2Department of Veterinary Clinical Sciences, College of Veterinary Medicine, University of Minnesota, Saint Paul, MN, USA. 3Department of Clinical Sciences, College of Veterinary Medicine, North Carolina State University, 1060 William Moore Dr, Raleigh, NC 27607, USA; Comparative Medicine Institute, North Carolina State University, Raleigh, NC, USA. 4Department of Clinical Sciences, College of Veterinary Medicine, North Carolina State University, 1060 William Moore Dr, Raleigh, NC 27607, USA. 5Department of Pathology, School of Medicine, University of California San Diego, La Jolla, CA, USA. KEYWORDS: Canine; Centronuclear myopathy; Myotubularin myopathy
AFM-Téléthon (Service Documentation) – 25/05/2020 22/42
Bibliographie sur les maladies neuromusculaires Bibliography of neuromuscular disorders n° 2020-05-2 du 12 au 24 mai 2020 (May 12 to 24, 2020)
PMID: 32417001 DOI:10.1016/j.nmd.2020.02.021
Myopathies distales – Distal myopathies 84. Am J Hum Genet. 2020 May 10. pii: S0002-9297(20)30120-8. [Epub ahead of print] Expansion of GGC Repeat in GIPC1 Is Associated with Oculopharyngodistal Myopathy. Deng J1, Yu J1, Li P2, Luan X3, Cao L3, Zhao J1, Yu M1, Zhang W1, Lv H1, Xie Z1, Meng L1, Zheng Y1, Zhao Y1, Gang Q1, Wang Q1, Liu J1, Zhu M4, Guo X2, Su Y2, Liang Y2, Liang F2, Hayashi T5, Maeda MH6, Sato T7, Ura S8, Oya Y9, Ogasawara M10, Iida A11, Nishino I12, Zhou C13, Yan C14, Yuan Y1, Hong D15, Wang Z16. 1Department of Neurology, Peking University First Hospital, Beijing 100034, China. 2Grandomics Biosciences, Beijing 101312, China. 3Department of Neurology, Rui Jin Hospital & Rui Jin Hospital North, Shanghai Jiao Tong University School of Medicine, Shanghai 200025, China. 4Department of Neurology, The First Affiliated Hospital of Nanchang University, Nanchang 330006, China. 5Department of Neurology, Toyama University Hospital, Toyama 930-0194, Japan. 6Department of Neurology, Federation of National Public Service Personnel Mutual Aid Associations Toranomon Hospital, Tokyo 105-8470, Japan. 7Department of Neurology, Hakodate Medical Association Hospital, Hakodate 041-8522, Japan. 8Department of Neurology, Japanese Red Cross Asahikawa Hospital, Asahikawa 070-8530, Japan. 9Department of Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Tokyo 187-8551, Japan. 10Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo 187-8551, Japan. 11Department of Clinical Genome Analysis, Medical Genome Center, National Center of Neurology and Psychiatry, Tokyo 187-8551, Japan. 12Department of Clinical Genome Analysis, Medical Genome Center, National Center of Neurology and Psychiatry, Tokyo 187-8551, Japan; Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo 187-8551, Japan. 13National Laboratory of Biomacromolecules, CAS Center for Excellence in Biomacromolecules, Institute of Biophysics, Chinese Academy of Sciences, Beijing 100101, China. 14Research Institute of Neuromuscular and Neurodegenerative Diseases and Department of Neurology, Qilu Hospital, Shandong University, Jinan 250012, China; Mitochondrial Medicine Laboratory, Qilu Hospital (Qingdao), Shandong University, Qingdao 266035, China; Brain Science Research Institute, Shandong University, Jinan 250012, China. 15Department of Neurology, The First Affiliated Hospital of Nanchang University, Nanchang 330006, China. Electronic address: [email protected]. 16Department of Neurology, Peking University First Hospital, Beijing 100034, China. Electronic address: [email protected]. KEYWORDS: GGC repeat expansions; GIPC1; RNA-seq; intranuclear inclusions; oculopharyngodistal myopathy PMID: 32413282 DOI:10.1016/j.ajhg.2020.04.011
Myopathies inflammatoires – Inflammatory myopathies 85. J Appl Lab Med. 2020 Mar 1;5(2):320-331. doi: 10.1093/jalm/jfz016. Evaluation of a New Skeletal Troponin I Assay in Patients with Idiopathic Inflammatory Myopathies. Bamberg K1, Mehtälä L1, Arola O2, Laitinen S3, Nordling P4, Strandberg M4, Strandberg N5, Paltta J6, Mali M6, Espinosa- Ortega F7, Pirilä L6, Lundberg IE7, Savukoski T1, Pettersson K1. 1Department of Biochemistry/Biotechnology, University of Turku, Turku, Finland. 2Intensive Care Medicine and Pain Management, Turku University Hospital, Turku, Finland. 3Regional Laboratory NordLab Kajaani, Kajaani, Finland. 4Heart Center, Turku University Hospital, Turku, Finland. 5Department of Orthopaedic Surgery, Turku University Hospital, Turku, Finland. 6Department of Rheumatology, Turku University Hospital, Turku, Finland. 7Division of Rheumatology, Department of Medicine, Karolinska Institutet, Karolinska University Hospital, Stockholm, Sweden. KEYWORDS: Idiopathic inflammatory myopathy; Immunoassay; Skeletal muscle injury; Skeletal troponin I PMID: 32445386 DOI:10.1093/jalm/jfz016
86. Dermatol Ther (Heidelb). 2020 May 22. doi: 10.1007/s13555-020-00396-6. [Epub ahead of print] Toripalimab-Induced Dermatomyositis in a Patient with Metastatic Melanoma. Lin J1, Xue M1, Gao M1, Yu P1, Han S2. 1Department of Dermatology, First Affiliated Hospital of Dalian Medical University, Dalian, China.
AFM-Téléthon (Service Documentation) – 25/05/2020 23/42
Bibliographie sur les maladies neuromusculaires Bibliography of neuromuscular disorders n° 2020-05-2 du 12 au 24 mai 2020 (May 12 to 24, 2020)
2Department of Dermatology, First Affiliated Hospital of Dalian Medical University, Dalian, China. [email protected]. KEYWORDS: Dermatomyositis; Metastatic melanoma; Toripalimab; Treatment; irAEs PMID: 32445174 DOI:10.1007/s13555-020-00396-6
87. Clin Exp Rheumatol. 2020 Mar-Apr;38 Suppl 124(2):188-194. Epub 2020 May 22. Rituximab-associated hypogammaglobulinaemia in ANCA-associated vasculitis and connective tissue diseases: a longitudinal observational study. Padoan R1, Felicetti M1, Gatto M1, Polito P1, Doria A2, Schiavon F1. 1Rheumatology Unit, Department of Medicine DIMED, University of Padova, Italy. 2Rheumatology Unit, Department of Medicine DIMED, University of Padova, Italy. [email protected]. PMID: 32441645
88. J Am Acad Dermatol. 2020 May 18. pii: S0190-9622(20)30916-6. [Epub ahead of print] The synchronized gene expression of retrotransposons and type I interferon in dermatomyositis. Kuriyama Y1, Shimizu A2, Kanai S1, Oikawa D3, Tokunaga F3, Tsukagoshi H4, Ishikawa O1. 1Department of Dermatology, Gunma University Graduate School of Medicine, 3-39-22 Showa-machi, Maebashi, Gunma 371-8512, Japan. 2Department of Dermatology, Gunma University Graduate School of Medicine, 3-39-22 Showa-machi, Maebashi, Gunma 371-8512, Japan. Electronic address: [email protected]. 3Department of Pathobiochemistry, Graduate School of Medicine, Osaka City University, Osaka, Japan. 4Department of Health Science, Gunma Prefectural Institute of Public Health and Environmental Sciences, Maebashi, Gunma, Japan. KEYWORDS: Dermatomyositis; LINE-1; Retrotransposon; Type 1 interferon PMID: 32439465 PMCID:PMC7234944 DOI:10.1016/j.jaad.2020.05.051 Free PMC Article
89. Front Pharmacol. 2020 May 6;11:613. doi: 10.3389/fphar.2020.00613. eCollection 2020. Anti-Inflammatory Properties of Chemical Probes in Human Whole Blood: Focus on Prostaglandin E2 Production. Bergqvist F1,2, Sundström Y1,2, Shang MM1,2, Gunnarsson I1, Lundberg IE1, Sundström M1,2, Jakobsson PJ1,2, Berg L1,2. 1Division of Rheumatology, Department of Medicine, Solna, Karolinska Institutet, and Karolinska University Hospital, Stockholm, Sweden. 2The Structural Genomic Consortium (SGC), Karolinska Institutet, Stockholm, Sweden. KEYWORDS: drug screen; inflammation; interleukin-8; prostaglandin E2; whole blood assay PMID: 32435199 PMCID:PMC7218097 DOI:10.3389/fphar.2020.00613 Free PMC Article
90. Clin Cardiol. 2020 May 20. doi: 10.1002/clc.23375. [Epub ahead of print] Statin use in patients with non-HMGCR idiopathic inflammatory myopathies: A retrospective study. Bae SS1, Oganesian B1, Golub I1, Charles-Schoeman C1. 1Division of Rheumatology, University of California Los Angeles, Los Angeles, California, USA. KEYWORDS: idiopathic inflammatory myopathy; muscle adverse events; retrospective study; statin use PMID: 32432360 DOI:10.1002/clc.23375 Free full text
91. Cureus. 2020 May 14;12(5):e8125. doi: 10.7759/cureus.8125. Polymyositis Presenting as Rhabdomyolysis After the Initiation of Omeprazole. Jakubowski JK1, Patel R1, Buddharaju V2. 1Internal Medicine, Chicago Medical School - Rosalind Franklin University of Medicine and Science, North Chicago, USA. 2Nephrology, Chicago Medical School - Rosalind Franklin University of Medicine and Science, North Chicago, USA. KEYWORDS: polymyositis; proton pump inhibitor; rhabdomyolysis PMID: 32432010 PMCID:PMC7234030 DOI:10.7759/cureus.8125 Free PMC Article
92. Chest. 2020 May 16. pii: S0012-3692(20)31408-2. doi: 10.1016/j.chest.2020.04.057. [Epub ahead of print] Mortality risk prediction in amyopathic dermatomyositis associated with interstitial lung disease: the FLAIR model. Lian X1, Zou J2, Guo Q1, Chen S1, Lu L1, Wang R1, Zhou M1, Fu Q3, Ye Y4, Bao C5.
AFM-Téléthon (Service Documentation) – 25/05/2020 24/42
Bibliographie sur les maladies neuromusculaires Bibliography of neuromuscular disorders n° 2020-05-2 du 12 au 24 mai 2020 (May 12 to 24, 2020)
1Department of Rheumatology, Renji Hospital, School of Medicine, Shanghai Jiaotong University, Shanghai 200001, China. 2Department of Pneumology, Renji Hospital, School of Medicine, Shanghai Jiaotong University, Shanghai 200001, China. 3Department of Rheumatology, Renji Hospital, School of Medicine, Shanghai Jiaotong University, Shanghai 200001, China. Electronic address: [email protected]. 4Department of Rheumatology, Renji Hospital, School of Medicine, Shanghai Jiaotong University, Shanghai 200001, China. Electronic address: [email protected]. 5Department of Rheumatology, Renji Hospital, School of Medicine, Shanghai Jiaotong University, Shanghai 200001, China. Electronic address: [email protected]. KEYWORDS: ADM-ILD; Prognosis; Risk score model PMID: 32428508 DOI:10.1016/j.chest.2020.04.057
93. Paediatr Int Child Health. 2020 May 19:1-4. doi: 10.1080/20469047.2020.1765123. [Epub ahead of print] Juvenile dermatomyositis presenting as complete heart block in a 10-year-old girl. Ghosh R1, Roy D1, Dubey S2, Abdelrahman K3, Dey AK4, Chatterjee S5, Lahiri D6, Ray BK2. 1Department of General Medicine, Burdwan Medical College & Hospital, Burdwan, India. 2Department of Neuromedicine, Bangur Institute of Neurosciences, Institute of Postgraduate Medical Education and Research & SSKM Hospital, Kolkata, India. 3Dell Medical School, University of Texas, Austin, TX, USA. 4National Heart, Lung and Blood Institute, National Institutes of Health, Bethesda, MD, USA. 5Department of General Medicine, Rajendra Institute of Medical Sciences, Ranchi, India. 6Department of Neuromedicine, R. G. Kar Medical College & Hospital, Kolkata, India. KEYWORDS: Juvenile dermatomyositis; MRI; arrhythmia; cardiac; heart block; immunosuppression; myopathy PMID: 32427522 DOI:10.1080/20469047.2020.1765123
94. Transl Lung Cancer Res. 2020 Apr;9(2):360-365. doi: 10.21037/tlcr.2020.02.05. Nivolumab resulting in persistently elevated troponin levels despite clinical remission of myocarditis and myositis in a patient with malignant pleural mesothelioma: case report. Lie G1, Weickhardt A1,2,3, Kearney L4, Lam Q5, John T1,2,3, Liew D6,7, Arulananda S1,2,3. 1Department of Medical Oncology, Olivia Newton-John Cancer and Wellness Centre, Heidelberg, Australia. 2Cancer Immuno-Biology Laboratory, Olivia-Newton John Cancer Research Institute, Heidelberg, Australia. 3School of Cancer Medicine, La Trobe University, Heidelberg, Australia. 4Department of Cardiology, Austin Health, Heidelberg, Australia. 5Department of Pathology, Austin Health, Heidelberg, Australia. 6Department of Rheumatology, Austin Health, Heidelberg, Australia. 7Department of Medicine, Austin Health, Heidelberg, Australia. KEYWORDS: Nivolumab; case report; mesothelioma; myocarditis; myositis PMID: 32420076 PMCID:PMC7225145 DOI:10.21037/tlcr.2020.02.05 Free PMC Article
95. Breast J. 2020 May 18. doi: 10.1111/tbj.13888. [Epub ahead of print] Paraneoplastic dermatomyositis in hereditary breast and ovarian cancer syndrome. Kumar N1, Deo S2. 1Surgical Oncology, IRCH, All India Institute of Medical Sciences, New Delhi, India. 2Surgical Oncology, All India Institute of Medical Sciences, New Delhi, India. PMID: 32419320 DOI:10.1111/tbj.13888
96. Acad Radiol. 2020 May 13. pii: S1076-6332(20)30215-4. [Epub ahead of print] The Diagnostic Value of MR IVIM and T2 Mapping in Differentiating Autoimmune Myositis From Muscular Dystrophy. Ran J1, Yin C1, Liu C1, Li Y1, Hou B1, Morelli JN2, Dai B3, Li X4. 1Department of Radiology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, No.1095, Jiefang Road, Wuhan 430030, Hubei Province, People's Republic of China. 2Russell H. Morgan Department of Radiology and Radiological Science, Johns Hopkins University School of Medicine, Baltimore, Maryland. 3Department of General Surgery, General Hospital of the Central Theater Command of the People's Liberation Army, Wuhan, People's Republic of China.
AFM-Téléthon (Service Documentation) – 25/05/2020 25/42
Bibliographie sur les maladies neuromusculaires Bibliography of neuromuscular disorders n° 2020-05-2 du 12 au 24 mai 2020 (May 12 to 24, 2020)
4Department of Radiology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, No.1095, Jiefang Road, Wuhan 430030, Hubei Province, People's Republic of China. Electronic address: [email protected]. KEYWORDS: Autoimmune myositis; Intravoxel incoherent motion; Magnetic resonance imaging; Muscular Dystrophy; T2 mapping PMID: 32417032 DOI:10.1016/j.acra.2020.04.022
97. Arthritis Res Ther. 2020 May 15;22(1):117. doi: 10.1186/s13075-020-02210-2. The promise, perceptions, and pitfalls of immunoassays for autoantibody testing in myositis. Tansley SL1, Snowball J2, Pauling JD2, Lissina A2, Kuwana M3, Rider LG4, Rönnelid J5, McHugh NJ2; International Myositis Assessment and Clinical Studies (IMACS) Group Myositis Autoantibody Scientific Interest Group. 1University of Bath, Bath, UK. [email protected]. 2University of Bath, Bath, UK. 3Keio University, Tokyo, Japan. 4National Institute of Health, Bethesda, MD, USA. 5Uppsala Universitet, Uppsala, Sweden. KEYWORDS: Autoantibody; Myositis PMID: 32414409 DOI:10.1186/s13075-020-02210-2 Free full text
98. J Clin Med. 2020 May 13;9(5). pii: E1446. doi: 10.3390/jcm9051446. Mitochondrial Dysfunction: A Common Hallmark Underlying Comorbidity between sIBM and Other Degenerative and Age-Related Diseases. Catalán-García M1,2,3, García-García FJ1,2,3, Moreno-Lozano PJ1,2,3, Alcarraz-Vizán G4,5, Tort-Merino A6, Milisenda JC1,2,3, Cantó-Santos J1,2,3, Barcos-Rodríguez T1,2,3, Cardellach F1,2,3, Lladó A6, Novials A4,5, Garrabou G1,2,3, Grau-Junyent JM1,2,3. 1Muscle Research and Mitochondrial Function Laboratory, CELLEX-IDIBAPS, Faculty of Medicine, University of Barcelona, 08036 Barcelona, Spain. 2Internal Medicine Department, Hospital Clinic of Barcelona, 08036 Barcelona, Spain. 3CIBERER-Spanish Biomedical Research Centre in Rare Diseases, 28029 Madrid, Spain. 4Diabetes and Obesity Laboratory Research, Institut d'Investigacions Biomèdiques August Pi I Sunyer (IDIBAPS), 08036 Barcelona, Spain. 5CIBERDEM-Spanish Biomedical Research Centre in Diabetes and Associated Metabolic Disorders, 28029 Madrid, Spain. 6Alzheimer's Disease and Other Cognitive Disorders Unit, Hospital Clínic and Institut d'Investigacions Biomèdiques August Pi I Sunyer (IDIBAPS), 08036 Barcelona, Spain. KEYWORDS: Alzheimer 2; T2DM 3; comorbidity 5; mitochondria 4; myositis 6; sIBM 1 PMID: 32413985 DOI:10.3390/jcm9051446 Free full text
99. Mediterr J Rheumatol. 2020 Mar 31;31(1):75-77. doi: 10.31138/mjr.31.1.75. eCollection 2020 Mar. Anti-MDA5 Positive Dermatomyositis Associated with Rapidly Progressive Interstitial Lung Disease and Correlation between Serum Ferritin Level and Treatment Response. Zohar DN1, Seluk L2, Yonath H2, Shoenfeld Y3, Kivity S2,3. 1Department of Neurology, The Chaim Sheba Medical Center, Ramat Gan, Israel. 2Department of Internal Medicine A, The Chaim Sheba Medical Center, Ramat Gan, Israel. 3The Zabludowicz Center for Autoimmune Diseases, Sheba Medical Center, Tel Hashomer, Sackler Faculty of Medicine, Tel-Aviv University, Tel Aviv Israel. KEYWORDS: Anti-MDA5; MSA; clinically amyopathic dermatomyositis; hyperferritinemia; interstitial lung disease PMID: 32411935 PMCID:PMC7219642 DOI:10.31138/mjr.31.1.75 Free PMC Article
100. Ultrasound J. 2020 May 15;12(1):27. doi: 10.1186/s13089-020-00174-7. Combined ultrasound-CT approach to monitor acute exacerbation of interstitial lung disease. Mongodi S1, Colombo A2, Orlando A3, Cavagna L4, Bouhemad B5,6, Iotti GA3,2, Mojoli F3,2. 1Anaesthesia and Intensive Care, San Matteo Hospital, Viale Golgi 19, Pavia, Italy. [email protected]. 2Department of Clinical-Surgical, Diagnostic and Paediatric Sciences, Unit of Anaesthesia and Intensive Care, University of Pavia, Pavia, Italy. 3Anaesthesia and Intensive Care, San Matteo Hospital, Viale Golgi 19, Pavia, Italy. 4Division of Rheumatology, University of Pavia, San Matteo Hospital, Pavia, Italy. 5Dijon and Université Bourgogne Franche-Comté LNC UMR866, F-21000 Dijon, BP 77908, Dijon Cedex, 21709, France.
AFM-Téléthon (Service Documentation) – 25/05/2020 26/42
Bibliographie sur les maladies neuromusculaires Bibliography of neuromuscular disorders n° 2020-05-2 du 12 au 24 mai 2020 (May 12 to 24, 2020)
6Department of Anesthesiology and Intensive Care, C.H.U. Dijon, Dijon Cedex, France. KEYWORDS: ECMO; High-resolution CT; Interstitial lung disease; Lung monitoring; Lung ultrasound PMID: 32409952 PMCID:PMC7224726 DOI:10.1186/s13089-020-00174-7 Free PMC Article
101. Int J Mol Sci. 2020 May 11;21(9). pii: E3389. doi: 10.3390/ijms21093389. Rheumatic Manifestations in Patients Treated with Immune Checkpoint Inhibitors. Melissaropoulos K1, Klavdianou K2, Filippopoulou A3, Kalofonou F4, Kalofonos H5, Daoussis D3. 1Department of Rheumatology, Agios Andreas General Hospital, 26335 Patras, Greece. 2Department of Rheumatology, "Asklepieion" General Hospital, 16673 Athens, Greece. 3Department of Rheumatology, Patras University Hospital, University of Patras Medical School, 26500 Patras, Greece. 4SHO-Clinical Fellow in Medical Oncology, Imperial Healthcare NHS Trust, London W21NY, UK. 5Department of Oncology, Patras University Hospital, University of Patras Medical School, 26500 Patras, Greece. KEYWORDS: arthritis; cancer immunotherapy; immune checkpoint inhibitors; musculoskeletal; myositis; polymyalgia rheumatica; rheumatic; scleroderma; sicca; systemic lupus erythematosus PMID: 32403289 DOI:10.3390/ijms21093389 Free full text
102. Expert Opin Biol Ther. 2020 May 13:1-11. doi: 10.1080/14712598.2020.1764931. [Epub ahead of print] Rationale for and clinical development of anti-fractalkine antibody in rheumatic diseases. Muraoka S1, Nishio J1,2, Kuboi Y3, Imai T3, Nanki T1. 1Division of Rheumatology, Department of Internal Medicine, Toho University School of Medicine, Tokyo, Japan. 2Department of Immunopathology and Immunoregulation, Toho University School of Medicine, Tokyo, Japan. 3KAN Research Institute, Inc, Hyogo, Japan. KEYWORDS: CX3CR1; fractalkine; polymyositis/dermatomyositis; rheumatoid arthritis; sjögren’s syndrome; systemic lupus erythematosus; systemic sclerosis; systemic vasculitis PMID: 32401060 DOI:10.1080/14712598.2020.1764931
103. Oncologist. 2020 May 13. doi: 10.1634/theoncologist.2019-0911. [Epub ahead of print] Statin Intolerance, anti-HMGCR Antibodies, and Immune Checkpoint Inhibitor-Associated Myositis: A "Two-Hit" Autoimmune Toxicity or Clinical Predisposition? von Itzstein MS1, Khan S2, Popat V3, Lu R4, Khan SA1,5,6, Fattah FJ5, Park JY7, Bermas BL1,8, Karp DR1,8, Ahmed M3, Saltarski JM5, Gloria-McCutchen Y5, Xie Y4,5, Li QZ2, Wakeland EK2, Gerber DE1,3,5,6. 1Department of Internal Medicine, University of Texas Southwestern Medical Center, Dallas, Texas, USA. 2Department of Immunology, University of Texas Southwestern Medical Center, Dallas, Texas, USA. 3School of Medicine, University of Texas Southwestern Medical Center, Dallas, Texas, USA. 4Department of Population and Data Sciences, University of Texas Southwestern Medical Center, Dallas, Texas, USA. 5Harold C. Simmons Comprehensive Cancer Center, University of Texas Southwestern Medical Center, Dallas, Texas, USA. 6Division of Hematology-Oncology, University of Texas Southwestern Medical Center, Dallas, Texas, USA. 7Department of Pathology, University of Texas Southwestern Medical Center, Dallas, Texas, USA. 8Division of Rheumatology, University of Texas Southwestern Medical Center, Dallas, Texas, USA. PMID: 32400023 DOI:10.1634/theoncologist.2019-0911 Free full text
104. Ann Rheum Dis. 2020 May 12. pii: annrheumdis-2020-217568. [Epub ahead of print] External validation of EULAR/ACR classification criteria for idiopathic inflammatory myopathies. Luu Q1,2, Day J3,4, Hall A5, Limaye V6, Major G7,8. 1Department of Rheumatology, Canterbury Hospital, Campsie, New South Wales, Australia [email protected]. 2South Western Sydney Clinical School, University of New South Wales, Liverpool, New South Wales, Australia. 3Department of Rheumatology, Royal Adelaide Hospital, Adelaide, South Australia, Australia. 4School of Pharmacy & Medical Sciences, University of South Australia, Adelaide, South Australia, Australia. 5Hunter Medical Research Institute, The University of Newcastle, New Lambton, New South Wales, Australia. 6Discipline of Medicine, The University of Adelaide, Adelaide, South Australia, Australia. 7Department of Rheumatology, John Hunter Hospital, New Lambton Heights, New South Wales, Australia. 8Faculty of Medicine, The University of Newcastle, Callaghan, New South Wales, Australia. KEYWORDS: autoimmune diseases; dermatomyositis; polymyositis PMID: 32398280 DOI:10.1136/annrheumdis-2020-217568
AFM-Téléthon (Service Documentation) – 25/05/2020 27/42
Bibliographie sur les maladies neuromusculaires Bibliography of neuromuscular disorders n° 2020-05-2 du 12 au 24 mai 2020 (May 12 to 24, 2020)
105. Expert Rev Respir Med. 2020 May 12. doi: 10.1080/17476348.2020.1767598. [Epub ahead of print] Lung involvement associated with anti-NXP2 autoantibodies in inflammatory myopathies: a French monocenter series. Bermudez J1,2, Heim X2,3, Bertin D3, Coulon B3, Puech B4, Bardin N2,3, Reynaud-Gaubert M1,5. 1Assistance Publique Hôpitaux de Marseille. Hôpital Nord. Service de Pneumologie, Centre de Compétence national des maladies pulmonaires rares, Marseille, France. 2Aix Marseille Université. INSERM. Centre de recherche en CardioVasculaire et Nutrition C2VN. Marseille, France. 3Assistance Publique Hôpitaux de Marseille. Hôpital La Conception. Laboratoire d'Immuno-Hématologie, Marseille, France. 4Assistance Publique Hôpitaux de Marseille, Hôpital Nord, Service de Radiologie, Marseille, France. 5Aix-Marseille Université, MEPHI, IHU-Méditerranée Infection, Marseille, France. KEYWORDS: Anti NXP2 antibodies; Auto immune lung disease; Dermatomyositis; Interstitial Lung Disease; Myositis Specific Antibody PMID: 32394768 DOI:10.1080/17476348.2020.1767598
Maladie de Pompe – Pompe disease 106. Neuromuscul Disord. 2020 Apr 16. pii: S0960-8966(20)30084-5. [Epub ahead of print] Is it Pompe Disease? Australian diagnostic considerations. Tchan M1, Henderson R2, Kornberg A3, Kairaitis K4, Fuller M5, Davis M6, Ellaway C7, Reardon K8, Corbett A9, Needham M10, McKelvie P11. 1Genetic Medicine, Westmead Hospital, The University of Sydney, Westmead, NSW, Australia. Electronic address: [email protected]. 2Neurology, Royal Brisbane and Women's Hospital, Herston, QLD, Australia. 3Neurology, Royal Children's Hospital, Melbourne, VIC, Australia. 4Department of Respiratory and Sleep Medicine, and University of Sydney at Westmead Hospital, the Westmead Institute for Medical Research, Westmead, NSW, Australia. 5Genetics and Molecular Pathology, SA Pathology at Women's and Children's Hospital, Adelaide, SA, Australia. 6Neurogenetics Unit, Department of Diagnostic Genomics, PathWest Laboratory Medicine, Perth, WA, Australia. 7Paediatrician, Clinical Geneticist Genetic Metabolic Disorders Service, Sydney Children's Hospital Network, Sydney, NSW, Australia. 8Neurology, St Vincent's Hospital, Fitzroy, VIC, Australia. 9Neurology, Concord Repatriation General Hospital, Concord, NSW, Australia. 10Neurology, Fiona Stanley Hospital, Institute for Immunology and Infectious Diseases, Murdoch University, Notre Dame University, WA, Australia. 11Neuropathology, St Vincent's Hospital, Fitzroy, VIC, Australia. KEYWORDS: Classification; Diagnosis; Management; Monitoring; Multidisciplinary care; Pompe Disease PMID: 32418839 DOI:10.1016/j.nmd.2020.03.007
107. Clin Lab. 2020 May 1;66(5). doi: 10.7754/Clin.Lab.2019.191009. A 2-Year-Old Child with Late-Onset Pompe Disease: a Case Report. Li S, Zhu C, Li P. PMID: 32390398 DOI:10.7754/Clin.Lab.2019.191009
Myopathies métaboliques – Metabolic myopathies 108. Front Physiol. 2020 Apr 30;11:350. doi: 10.3389/fphys.2020.00350. eCollection 2020. Metabolic Myopathies: "Human Knockout" Models and Translational Medicine. Grassi B1, Porcelli S2,3, Marzorati M2. 1Department of Medicine, University of Udine, Udine, Italy. 2Institute of Biomedical Technologies, National Research Council, Segrate, Italy. 3Department of Molecular Medicine, University of Pavia, Pavia, Italy. KEYWORDS: McArdle disease; functional evaluation; metabolic myopathies; mitochondrial myopathies; skeletal muscle oxidative metabolism PMID: 32425807 PMCID:PMC7203498 DOI:10.3389/fphys.2020.00350 Free PMC Article
AFM-Téléthon (Service Documentation) – 25/05/2020 28/42
Bibliographie sur les maladies neuromusculaires Bibliography of neuromuscular disorders n° 2020-05-2 du 12 au 24 mai 2020 (May 12 to 24, 2020)
109. Minerva Pediatr. 2020 Apr;72(2):142-144. doi: 10.23736/S0026-4946.19.05496-3. "On air" diagnosis of sudden cardiac death with dynamic Holter ECG in glycogen storage disease type III young female. Focardi M1, Bosco A2, Bugelli V1,3, Defraia B1, Donati MA4, Pinchi V1. 1Section of Forensic Medical Sciences, Department of Health Sciences, University of Florence, Florence, Italy. 2Section of Forensic Medical Sciences, Department of Health Sciences, University of Florence, Florence, Italy - [email protected]. 3Department of Medicine and Health Sciences (DiMeS), University of Molise, Campobasso, Italy. 4Metabolic and Muscular Unit, Clinical of Pediatric Neurology, Meyer Children's Hospital, University of Florence, Florence, Italy. PMID: 32441908 DOI:10.23736/S0026-4946.19.05496-3
Myopathies mitochondriales – Mitochondrial myopathies 110. Hum Mutat. 2020 May 22. doi: 10.1002/humu.24050. [Epub ahead of print] The expanding LARS2 phenotypic spectrum: HLASA, Perrault syndrome with leukodystrophy, and mitochondrial myopathy. Riley LG1,2, Rudinger-Thirion J3, Frugier M3, Wilson M4,5, Luig M6, Alahakoon TI7, Nixon CY8,9, Kirk EP9,10, Roscioli T10, Lunke S11,12,13, Stark Z11,13,14, Wierenga KJ15,16, Palle S15, Walsh M17, Higgs E17, Arbuckle S18, Thirukeswaran S14,19, Compton AG14,19, Thorburn DR11,14,19, Christodoulou J2,11,13,14,19. 1Rare Diseases Functional Genomics, Kids Research, The Children's Hospital at Westmead and The Children's Medical Research Institute, Sydney, Australia. 2Discipline of Child & Adolescent Health, Sydney Medical School, Sydney, Australia. 3Université de Strasbourg, Architecture et Réactivité de l'ARN, CNRS, IBMC, Strasbourg, France. 4Department of Clinical Genetics, The Children's Hospital at Westmead, Sydney, Australia. 5Discipline of Genomic Medicine, University of Sydney, Sydney, Australia. 6Dept of Neonatology, Westmead Hospital, Sydney, Australia. 7Westmead Institute for Maternal & Fetal Medicine, Westmead Hospital & University of Sydney, Australia. 8Neuroscience Research Australia (NeuRA), University of New South Wales, Sydney, Australia. 9Genetics Laboratory, NSW Health Pathology East, Randwick, Sydney, Australia. 10Centre for Clinical Genetics, Sydney Children's Hospital, Randwick, Sydney, Australia. 11Victorian Clinical Genetics Services, The Royal Children's Hospital, Melbourne, Australia. 12Department of Pathology, University of Melbourne, Melbourne, Australia. 13Australian Genomics Health Alliance, Melbourne, Australia. 14Department of Paediatrics, University of Melbourne, Melbourne, Australia. 15Department of Pediatrics, University of Oklahoma Health Sciences Center (OUHSC), Oklahoma, USA. 16Department of Clinical Genomics, Mayo Clinic, Jacksonville, Florida, USA. 17Genetic Medicine & Familial Cancer Centre, Royal Melbourne Hospital, Melbourne, Australia. 18Department of Pathology, The Children's Hospital at Westmead, Sydney, Australia. 19Murdoch Children's Research Institute, The Royal Children's Hospital, Melbourne, Australia. KEYWORDS: Perrault syndrome; hydrops; lactic acidosis; leukodystrophy; sideroblastic anemia PMID: 32442335 DOI:10.1002/humu.24050
111. J Med Genet. 2020 May 21. pii: jmedgenet-2020-106861. [Epub ahead of print] Mutation in the MICOS subunit gene APOO (MIC26) associated with an X-linked recessive mitochondrial myopathy, lactic acidosis, cognitive impairment and autistic features. Benincá C1,2, Zanette V2, Brischigliaro M3, Johnson M1, Reyes A1, Valle DAD4, J Robinson A1, Degiorgi A5, Yeates A6, Telles BA4, Prudent J1, Baruffini E5, S F Santos ML4, R de Souza RL2, Fernandez-Vizarra E1, J Whitworth A1, Zeviani M7,8. 1Medical Research Council, Mitochondrial Biology Unit, Cambridge, Cambridgeshire, UK. 2Department of Genetics, Federal University of Parana, Curitiba, Paraná, Brazil. 3Department of Biology, University of Padova, Padova, Veneto, Italy. 4Neuropediatric Division, Hospital Pequeno Principe, Curitiba, Paraná, Brazil. 5Department of Chemistry, University of Parma, Parma, Emilia-Romagna, Italy. 6Medical Research Council, Laboratory of Molecular Biology, Cambridge, Cambridgeshire, UK. 7Medical Research Council, Mitochondrial Biology Unit, Cambridge, Cambridgeshire, UK [email protected]. 8Department of Neurosciences, University of Padova, Padova, Veneto, Italy. KEYWORDS: clinical genetics; genetics; metabolic disorders; neuromuscular disease PMID: 32439808 DOI:10.1136/jmedgenet-2020-106861 Free full text
AFM-Téléthon (Service Documentation) – 25/05/2020 29/42
Bibliographie sur les maladies neuromusculaires Bibliography of neuromuscular disorders n° 2020-05-2 du 12 au 24 mai 2020 (May 12 to 24, 2020)
112. J Neurol Sci. 2020 May 11:116896. doi: 10.1016/j.jns.2020.116896. [Epub ahead of print] Relation between intra-mitochondrial inclusions and pathophysiology of mitochondrial myopathy remains unprecise. Finsterer J1. 1Krankenanstalt Rudolfstiftung, Messerli Institute, Austria. Electronic address: [email protected]. KEYWORDS: Lipofuscin; Myopathy; Paracristalline inclusions; Respiratory chain; Spheroid bodies; mtDNA deletion PMID: 32444160 DOI:10.1016/j.jns.2020.116896
113. J Neurol Sci. 2020 May 11:116895. doi: 10.1016/j.jns.2020.116895. [Epub ahead of print] Response to "Relation between intra-mitochondrial inclusions and pathophysiology of mitochondrial myopathy remains unprecise". Lu JQ1, Tarnopolsky MA2. 1Department of Pathology and Molecular Medicine/Neuropathology, Hamilton, Ontario, Canada. Electronic address: [email protected]. 2Department of Medicine/Neurology, Hamilton, Ontario, Canada; Department of Pediatrics, McMaster University, Hamilton, Ontario, Canada. KEYWORDS: Chronic progressive external ophthalmoplegia; Electron microscopy; Lipofuscin; Mitochondrial myopathy; Paracrystalline inclusions; Spherical dense bodies PMID: 32418625 DOI:10.1016/j.jns.2020.116895
114. Kidney Int Rep. 2020 Feb 5;5(5):742-745. doi: 10.1016/j.ekir.2020.01.021. eCollection 2020 May. Long-Standing Hypokalemia and Lactic Acidosis as the Primary Presentation of Mitochondrial Myopathy. Miao J1, Qian Q1, Zand L1. 1Department of Internal Medicine, Division of Nephrology and Hypertension, Rochester, Minnesota, USA. PMID: 32405597 PMCID:PMC7210602 DOI:10.1016/j.ekir.2020.01.021 Free PMC Article
Myopathies myofibrillaires – Myofibrillar myopathies 115. Mol Genet Genomic Med. 2020 May 18:e1290. doi: 10.1002/mgg3.1290. [Epub ahead of print] A novel dominant mutation in CRYAB gene leading to a severe phenotype with childhood onset. Marcos AT1,2,3, Amorós D4, Muñoz-Cabello B5, Galán F4, Rivas Infante E6, Alcaraz-Mas L4, Navarro-Pando JM1,2,3. 1Unidad de Genética, INEBIR (Instituto para el estudio de la Biología de la Reproducción Humana), Seville, Spain. 2Cátedra de Reproducción y Genética Humana, INEBIR/Universidad Europea del Atlántico, Santander, Spain. 3FUNIBER (Fundación Universitaria Iberoamericana), Barcelona, Spain. 4BioArray, Universidad Miguel Hernández de Elche, Elche, Alicante, Spain. 5Sección de Neuropediatría, Hospital Virgen del Rocío, Sevilla, Spain. 6Unidad de Neuropatología, Hospital Virgen del Rocío, Sevilla, Spain. KEYWORDS: CRYAB ; HspB5; cardiomyopathy; cataracts; crystallinopathy; myopathy; αB-crystallin PMID: 32420686 DOI:10.1002/mgg3.1290 Free full text
Myosinopathies – Myosinopathies 116. Ann Rehabil Med. 2020 Apr;44(2):165-170. doi: 10.5535/arm.2020.44.2.165. Epub 2020 Apr 29. Precise Pulmonary Function Evaluation and Management of a Patient With Freeman-Sheldon Syndrome Associated With Recurrent Pneumonia and Chronic Respiratory Insufficiency. Park J1,2, Kang SW1,2, Choi WA1,2, Lee Y1,2, Cho HE1,2. 1Department of Rehabilitation Medicine and Rehabilitation Institute of Neuromuscular Disease, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul, Korea. 2Pulmonary Rehabilitation Center, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul, Korea. KEYWORDS: Freeman-Sheldon syndrome; Respiratory function tests; Respiratory insufficiency PMID: 32392656 PMCID:PMC7214134 DOI: 10.5535/arm.2020.44.2.165 Free PMC Article
AFM-Téléthon (Service Documentation) – 25/05/2020 30/42
Bibliographie sur les maladies neuromusculaires Bibliography of neuromuscular disorders n° 2020-05-2 du 12 au 24 mai 2020 (May 12 to 24, 2020)
Myotonies congénitales – Myotonia congenita 117. Ann Neurol. 2020 May 17. doi: 10.1002/ana.25780. [Epub ahead of print] TRPV4 antagonism prevents mechanically-induced myotonia. Dupont C1, Novak K1, Denman K1, Myers JH1, Sullivan JM2, Walker PV 2nd1, Brown NL1, Ladle DR1, Bogdanik L3, Lutz CM3, Voss A4, Sumner CJ2,5, Rich MM1. 1Department of Neuroscience, Cell Biology and Physiology, Wright State University, Dayton, OH, 45435, USA. 2Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD, 21205, USA. 3The Jackson Laboratory, Bar Harbor, ME, 04609, USA. 4Department of Biology, Wright State University, Dayton, OH, 45435, USA. 5Department of Neuroscience Johns Hopkins University School of Medicine, Baltimore, MD, 21205, USA. PMID: 32418267 DOI:10.1002/ana.25780
Syndromes myasthéniques congénitaux – Congenital myasthenic syndrome 118. Front Pediatr. 2020 Apr 28;8:185. doi: 10.3389/fped.2020.00185. eCollection 2020. Congenital Myasthenic Syndrome Caused by a Novel Hemizygous CHAT Mutation. Zhang Y1, Cheng X1, Luo C1, Lei M1, Mao F1, Shi Z1, Cao W1, Zhang J1, Zhang Q1. 1Neonatal Intensive Care Unit, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, China. KEYWORDS: CHAT mutation; apnoea; congenital myasthenic syndrome; genetic diagnosis; hemizygous PMID: 32411636 PMCID:PMC7198756 DOI:10.3389/fped.2020.00185 Free PMC Article
Maladies du motoneurone (plusieurs pathologies) – Motor neuron diseases (Multiple) 119. Nutr Neurosci. 2020 May 22:1-21. doi: 10.1080/1028415X.2020.1760531. [Epub ahead of print] Curcumin and neurological diseases. Adami R1, Bottai D1. 1Department of Health Sciences, University of Milan, Milan, Italy. KEYWORDS: Alzheimer’s disease; Curcumin; Parkinson’s disease; amyotrophic lateral sclerosis; epilepsy; multiple sclerosis; spinal cord injury; spinal muscular atrophy PMID: 32441587 DOI:10.1080/1028415X.2020.1760531
120. Neurobiol Dis. 2020 May 11;141:104940. doi: 10.1016/j.nbd.2020.104940. [Epub ahead of print] ALS and Parkinson's disease genes CHCHD10 and CHCHD2 modify synaptic transcriptomes in human iPSC-derived motor neurons. Harjuhaahto S1, Rasila TS1, Molchanova SM2, Woldegebriel R1, Kvist J1, Konovalova S1, Sainio MT1, Pennonen J1, Torregrosa-Muñumer R1, Ibrahim H1, Otonkoski T1, Taira T3, Ylikallio E4, Tyynismaa H5. 1Stem Cells and Metabolism Research Program, Faculty of Medicine, University of Helsinki, Helsinki, Finland. 2Stem Cells and Metabolism Research Program, Faculty of Medicine, University of Helsinki, Helsinki, Finland; Molecular and Integrative Biosciences Research Program, Faculty of Biological and Environmental Sciences, University of Helsinki, Helsinki, Finland. 3Faculty of Veterinary Medicine, Department of Veterinary Biosciences for Electrophysiology, University of Helsinki, Helsinki, Finland; Neuroscience Center, Helsinki Institute of Life Science, University of Helsinki, Helsinki, Finland. 4Stem Cells and Metabolism Research Program, Faculty of Medicine, University of Helsinki, Helsinki, Finland; Clinical Neurosciences, Neurology, Helsinki University Hospital, Helsinki, Finland. 5Stem Cells and Metabolism Research Program, Faculty of Medicine, University of Helsinki, Helsinki, Finland; Neuroscience Center, Helsinki Institute of Life Science, University of Helsinki, Helsinki, Finland; Department of Medical and Clinical Genetics, University of Helsinki, Helsinki, Finland. Electronic address: [email protected]. KEYWORDS: ALS; CHCHD10; CHCHD2; CMT2; CRISPR/Cas9; Induced pluripotent stem cell; Mitochondria; Motor neuron differentiation; RNA sequencing; SMAJ PMID: 32437855 DOI:10.1016/j.nbd.2020.104940
Dystrophies musculaires (plusieurs pathologies) – Muscular dystrophies (Multiple) 121. Eur J Prev Cardiol. 2020 May 16:2047487320923052. doi: 10.1177/2047487320923052. [Epub ahead of print] Cardiac magnetic resonance in patients with muscular dystrophies. Grigoratos C1, Aimo A2, Barison A1,2, Castiglione V2, Todiere G1, Ricci G3, Siciliano G3, Emdin M1,2. 1Fondazione Toscana Gabriele Monasterio, Italy. 2Institute of Life Sciences, Scuola Superiore Sant'Anna, Italy.
AFM-Téléthon (Service Documentation) – 25/05/2020 31/42
Bibliographie sur les maladies neuromusculaires Bibliography of neuromuscular disorders n° 2020-05-2 du 12 au 24 mai 2020 (May 12 to 24, 2020)
3Department of Clinical and Experimental Medicine, University of Pisa, Italy. KEYWORDS: Cardiac magnetic resonance; Duchenne/Becker muscular dystrophy; diagnosis; follow-up; muscular dystrophy; myotonic dystrophy; risk stratification PMID: 32418485 DOI:10.1177/2047487320923052
122. Curr Neurol Neurosci Rep. 2020 May 14;20(6):14. doi: 10.1007/s11910-020-01034-6. Update on Muscular Dystrophies with Focus on Novel Treatments and Biomarkers. Datta N1, Ghosh PS2. 1Department of Neurology, Cambridge Health Alliance, 1493 Cambridge St, Cambridge, MA, 02139, USA. 2Department of Neurology, Boston Children's Hospital, 300 Longwood Ave, Boston, MA, 02116, USA. [email protected]. KEYWORDS: Congenital muscular dystrophy; Duchenne muscular dystrophy; Emery-Dreifuss muscular dystrophy; Limb girdle muscular dystrophy; Muscular dystrophy; Myotonic dystrophy PMID: 32409939 DOI:10.1007/s11910-020-01034-6
Maladies neuromusculaires (plusieurs pathologies) – Neuromuscular diseases (Multiple) 123. Brain Pathol. 2020 May 17. doi: 10.1111/bpa.12864. [Epub ahead of print] Differential diagnosis of vacuolar myopathies in the NGS era. Mair D1,2,3, Biskup S4, Kress W5, Abicht A6, Brück W7, Zechel S7, Knop KC8, Koenig FB9, Tey S1, Nikolin S1, Eggermann K10, Kurth I10, Ferbert A2, Weis J1. 1Institute of Neuropathology, RWTH Aachen University, Aachen, Germany. 2Department of Neurology, Klinikum Kassel, Kassel, Germany. 3Kassel School of Medicine, University of Southampton, Southampton, United Kingdom. 4Centre for Genomics and Transcriptomics CeGaT, Tübingen, Germany. 5Institute of Human Genetics, University Würzburg, Würzburg, Germany. 6Medical Genetics Centre MGZ, Munich, Germany. 7Institute of Neuropathology, Göttingen University, Göttingen, Germany. 8Neurologie Neuer Wall, Hamburg, Germany. 9Institute of Pathology, Klinikum Kassel, Kassel, Germany. 10Institute of Human Genetics, RWTH Aachen University, Aachen, Germany. KEYWORDS: FSHD; Pompe disease; TRIM32; Vacuolar myopathy; autophagy; glycogenin 1; muscular dystrophy; myofibrillar myopathy; next generation sequencing (NGS); sarcotubular myopathy PMID: 32419263 DOI:10.1111/bpa.12864
124. NPJ Regen Med. 2020 May 11;5:10. doi: 10.1038/s41536-020-0094-3. eCollection 2020. Towards stem cell therapies for skeletal muscle repair. Judson RN1,2, Rossi FMV2. 1STEMCELL Technologies Inc, Vancouver, BC Canada. 2Biomedical Research Centre, Department of Medical Genetics, University of British Columbia, 2222 Health Sciences Mall, Vancouver, BC Canada. KEYWORDS: Cell delivery; Muscle stem cells PMID: 32411395 PMCID:PMC7214464 DOI:10.1038/s41536-020-0094-3 Free PMC Article
125. Genes (Basel). 2020 May 11;11(5). pii: E539. doi: 10.3390/genes11050539. Targeted Next-Generation Sequencing in a Large Cohort of Genetically Undiagnosed Patients with Neuromuscular Disorders in Spain. Gonzalez-Quereda L1,2, Rodriguez MJ1, Diaz-Manera J2,3, Alonso-Perez J3, Gallardo E2,3, Nascimento A2,4, Ortez C4, Benito DN2,4, Olive M5, Gonzalez-Mera L5,6, Munain AL7,8,9,10, Zulaica M7,8, Poza JJ9, Jerico I11,12, Torne L11, Riera P1, Milisenda J13, Sanchez A14, Garrabou G2,15, Llano I2,16,17, Madruga-Garrido M18,19, Gallano P1,2. 1Genetics Department Hospital de Sant Pau, IIB Sant Pau, 08041 Barcelona, Spain. 2U705, U762, U703, 722 and GCV4 for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain. 3Neuromuscular Unit, Neurology Department, Hospital de Sant Pau, IIB Sant Pau, 08041 Barcelona, Spain. 4Neuromuscular Unit, Neuropaediatrics Department, Hospital Sant Joan de Déu, Institut de Recerca Sant Joan de Déu, 08950 Barcelona, Spain.
AFM-Téléthon (Service Documentation) – 25/05/2020 32/42
Bibliographie sur les maladies neuromusculaires Bibliography of neuromuscular disorders n° 2020-05-2 du 12 au 24 mai 2020 (May 12 to 24, 2020)
5Neuropathology Unit, Department of Pathology and Neuromuscular Unit, Department of Neurology, IDIBELL-Hospital de Bellvitge, Hospitalet de Llobregat, 08907 Barcelona, Spain. 6Department of Neurology, Hospital de Viladecans, 08840 Barcelona, Spain. 7Biodonostia, Neurosciences Area, Neuromuscular Diseases Laboratory, San Sebastian, 20014 Basque Country, Spain. 8CIBERNED, Instituto de Salud Carlos III, Ministry of Science, Innovation and Universities, 28029 Madrid, Spain. 9Department of Neurology, Hospital Universitario Donostia, San Sebastian, 20014 Basque Country, Spain. 10Department of Neurosciences, Faculty of Medicine and Dentistry, UPV-EHU, San Sebastian, 48940 Basque Country, Spain. 11Navarre Institute for Health Research (IdiSNA), 31008 Pamplona, Spain. 12Department of Neurology, Complejo Hospitalario de Navarra, 31008 Pamplona, Spain. 13Hospital Clinic de Barcelona and Universidad de Barcelona, 08036 Barcelona, Spain. 14Department of Biochemistry and Molecular Genetics, Hospital Clinic de Barcelona, 08036 Barcelona, Spain. 15Cellex, IDIBAPS, University of Barcelona-Hospital Clínic of Barcelona, 08036 Barcelona, Spain. 16Biocruces Bizkaia Health Research Institute, Barakaldo, 48903 Bizkaia, Spain. 17Genetics Service, Cruces University Hospital, Osakidetza Basque Health Service, Barakaldo, 48903 Bizkaia, Spain. 18Instituto de Biomedicina de Sevilla (IBiS), Hospital Universitario Virgen del Rocío/CSIC, Universidad de Sevilla, 41013 Sevilla, Spain. 19Neuromuscular Disorder Unit, Pediatric Neurology Department, Hospital U. Virgen del Rocío, 41013 Sevilla, Spain. KEYWORDS: congenital myasthenic syndromes; congenital myopathies; muscular dystrophies; neuromuscular diseases; targeted next-generation sequencing PMID: 32403337 DOI:10.3390/genes11050539 Free full text
126. Brain. 2020 May 21. pii: awaa115. doi: 10.1093/brain/awaa115. [Epub ahead of print] Arginine is a disease modifier for polyQ disease models that stabilizes polyQ protein conformation. Minakawa EN1, Popiel HA1,2, Tada M3, Takahashi T3, Yamane H1, Saitoh Y1, Takahashi Y4, Ozawa D5, Takeda A5, Takeuchi T1,5, Okamoto Y1,2, Yamamoto K1, Suzuki M1,5, Fujita H1, Ito C2, Yagihara H1, Saito Y6, Watase K7, Adachi H8, Katsuno M8, Mochizuki H9, Shiraki K10, Sobue G8, Toda T2, Wada K1, Onodera O3, Nagai Y1,2,5,9. 1Department of Degenerative Neurological Diseases, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan. 2Division of Clinical Genetics, Osaka University Graduate School of Medicine, Suita, Osaka, Japan. 3Department of Neurology, Brain Research Institute, Niigata University, Niigata, Niigata, Japan. 4Olympus Corporation, Hachioji, Tokyo, Japan. 5Department of Neurotherapeutics, Osaka University Graduate School of Medicine, Suita, Osaka, Japan. 6Department of Pathology and Laboratory Medicine, National Center Hospital, National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan. 7Center for Brain Integration Research, Tokyo Medical and Dental University, Bunkyo-ku, Tokyo, Japan. 8Department of Neurology, Nagoya University Graduate School of Medicine, Nagoya, Aichi, Japan. 9Department of Neurology, Osaka University Graduate School of Medicine, Suita, Osaka, Japan. 10Faculty of Pure and Applied Sciences, University of Tsukuba, Tsukuba, Ibaraki, Japan. KEYWORDS: arginine; chemical chaperone; disease-modifying therapy; polyglutamine diseases; protein conformation PMID: 32436573 DOI:10.1093/brain/awaa115
127. Hematol Oncol Stem Cell Ther. 2020 May 15. pii: S1658-3876(20)30098-4. [Epub ahead of print] Fatal autoimmune storm after a single cycle of anti-PD-1 therapy: A case of lethal toxicity but pathological complete response in metastatic lung adenocarcinoma. Fuentes-Antrás J1, Peinado P2, Guevara-Hoyer K3, Del Arco CD4, Sánchez-Ramón S3, Aguado C2. 1Department of Medical Oncology, Hospital Clínico San Carlos, Madrid, Spain. Electronic address: [email protected]. 2Department of Medical Oncology, Hospital Clínico San Carlos, Madrid, Spain. 3Department of Clinical Immunology, Hospital Clínico San Carlos, Madrid, Spain. 4Department of Pathology, Hospital Clínico San Carlos, Madrid, Spain. KEYWORDS: Immune-related adverse events; Immunotherapy; Lung adenocarcinoma; Myasthenia gravis; Myocarditis; Myositis; PD-1/PD-L1 PMID: 32442551 DOI:10.1016/j.hemonc.2020.04.006 Free full text
128. Acta Neurol Scand. 2020 May 20. doi: 10.1111/ane.13284. [Epub ahead of print] Associations between MRI and EMG findings in myopathies. Meyer HJ1, Schneider I2, Emmer A2, Kornhuber M2, Surov A3.
AFM-Téléthon (Service Documentation) – 25/05/2020 33/42
Bibliographie sur les maladies neuromusculaires Bibliography of neuromuscular disorders n° 2020-05-2 du 12 au 24 mai 2020 (May 12 to 24, 2020)
1Department of Diagnostic and Interventional Radiology, University of Leipzig, Leipzig, Germany. 2Department of Neurology, Martin-Luther-University Halle-Wittenberg, Halle (Saale), Germany. 3Department of Diagnostic and Interventional Radiology, University of Magdeburg, Magdeburg, Germany. KEYWORDS: MRI; electromyography; histogram analysis; myopathy; myositis PMID: 32436228 DOI:10.1111/ane.13284
129. BMC Neurol. 2020 May 13;20(1):184. doi: 10.1186/s12883-020-01725-0. Efficacy of a physical activity programme combining individualized aerobic exercise and coaching to improve physical fitness in neuromuscular diseases (I'M FINE): study protocol of a randomized controlled trial. Oorschot S1, Brehm MA2, van Groenestijn AC2, Koopman FS2, Verhamme C3, Eftimov F3, Jelsma JGM4, Jorstad HT5, Nollet F2, Voorn EL2. 1Department of Rehabilitation, Amsterdam Movement Sciences, Amsterdam UMC, University of Amsterdam, Meibergdreef 9, Amsterdam, The Netherlands. [email protected]. 2Department of Rehabilitation, Amsterdam Movement Sciences, Amsterdam UMC, University of Amsterdam, Meibergdreef 9, Amsterdam, The Netherlands. 3Department of Neurology, Amsterdam Neuroscience, Amsterdam UMC, University of Amsterdam, Meibergdreef 9, Amsterdam, The Netherlands. 4Department of Public and Occupational Health, Amsterdam UMC, VU University Medical Center, de Boelelaan 1118, Amsterdam, The Netherlands. 5Department of Cardiology, Amsterdam Movement Sciences, Amsterdam UMC, University of Amsterdam, Meibergdreef 9, Amsterdam, The Netherlands. KEYWORDS: Active lifestyle; Aerobic exercise; Coaching; Motivational interviewing; Neuromuscular diseases; Physical fitness PMID: 32404133 PMCID:PMC7218829 DOI:10.1186/s12883-020-01725-0 Free PMC Article
Divers – Miscellaneous 130. Otolaryngol Head Neck Surg. 2020 May 19:194599820926456. [Epub ahead of print] Impact of AAO-HNS Guideline on Obtaining Polysomnography Prior to Tonsillectomy for Pediatric Sleep-Disordered Breathing. Banik GL1, Empey RM1, Lam DJ1. 1Department of Otolaryngology/Head and Neck Surgery, Oregon Health and Science University, Portland, Oregon, USA. KEYWORDS: adenotonsillectomy; guideline; obstructive sleep apnea; pediatric; polysomnography PMID: 32427548 DOI:10.1177/0194599820926456
131. J Pediatr Gastroenterol Nutr. 2020 May 11. doi: 10.1097/MPG.0000000000002771. [Epub ahead of print] Emotional Wellbeing in Parents of Children on Home Parenteral Nutrition. Halsey M1, Hodgson K1, Russell R2, Campion A1, Machado C1, Beattie RM2, Batra A2. 1Child Clinical Psychology, University Hospital Southampton, Tremona Road, Southampton, UK. 2Department of Paediatric Gastroenterology, University Hospital Southampton, Tremona Road, Southampton, UK. PMID: 32404755 DOI:10.1097/MPG.0000000000002771
132. BMC Med Genomics. 2020 May 11;13(1):67. doi: 10.1186/s12920-020-0712-3. MyoMiner: explore gene co-expression in normal and pathological muscle. Malatras A1, Michalopoulos I2, Duguez S1,3, Butler-Browne G1, Spuler S4, Duddy WJ5,6. 1Sorbonne Université, Inserm, Institut de Myologie, U974, Center for Research in Myology, 47 Boulevard de l'hôpital, 75013, Paris, France. 2Centre of Systems Biology, Biomedical Research Foundation, Academy of Athens, 4 Soranou Ephessiou St., 11527, Athens, Greece. 3Northern Ireland Centre for Stratified Medicine, Biomedical Sciences Research Institute, C-TRIC, Altnagelvin Hospital Campus, Glenshane Road, Ulster University, Derry/Londonderry, BT47 6SB, UK. 4Muscle Research Unit, Experimental and Clinical Research Center - a joint cooperation of the Charité Medical Faculty and the Max Delbrück Center for Molecular Medicine, Lindenberger Weg 80, 13125, Berlin, Germany. 5Sorbonne Université, Inserm, Institut de Myologie, U974, Center for Research in Myology, 47 Boulevard de l'hôpital, 75013, Paris, France. [email protected].
AFM-Téléthon (Service Documentation) – 25/05/2020 34/42
Bibliographie sur les maladies neuromusculaires Bibliography of neuromuscular disorders n° 2020-05-2 du 12 au 24 mai 2020 (May 12 to 24, 2020)
6Northern Ireland Centre for Stratified Medicine, Biomedical Sciences Research Institute, C-TRIC, Altnagelvin Hospital Campus, Glenshane Road, Ulster University, Derry/Londonderry, BT47 6SB, UK. [email protected]. KEYWORDS: Correlation; Differential correlation; Functional genomics; Gene co-expression; Gene co-expression networks; Transcriptomics PMID: 32393257 PMCID:PMC7216615 DOI:10.1186/s12920-020-0712-3 Free PMC Article
AFM-Téléthon (Service Documentation) – 25/05/2020 35/42
Bibliographie sur les maladies neuromusculaires Bibliography of neuromuscular disorders n° 2020-05-2 du 12 au 24 mai 2020 (May 12 to 24, 2020)
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 Neurol India. 2020 Mar-Apr;68(2):518-521. doi: 10.4103/0028-3886.284351. A symptomatic female patient with duchenne muscular dystrophy gene mutation showing rimmed vacuoles in muscle biopsy. Ban R1, Lu X2, Pu C3, Shi Q3, Wang H4, Liu H3, Zhang Y3, Fang F5. 1Neurological Department of the First Medical Center, Chinese PLA General Hospital; Department of Neurology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, P.R. China. 2Geriatric Neurological Department of the Second Medical Center and National Clinical Research Center for Geriatric Diseases, Chinese PLA General Hospital, P.R. China. 3Neurological Department of the First Medical Center, Chinese PLA General Hospital, P.R. China. 4Neurological Department, First Affiliated Hospital of Shanxi Medical University, P.R. China. 5Department of Neurology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, P.R. China. PMID: 32415039 DOI:10.4103/0028-3886.284351
Cardiologie – Cardiology Eur J Prev Cardiol. 2020 May 16:2047487320923052. doi: 10.1177/2047487320923052. [Epub ahead of print] Cardiac magnetic resonance in patients with muscular dystrophies. Grigoratos C1, Aimo A2, Barison A1,2, Castiglione V2, Todiere G1, Ricci G3, Siciliano G3, Emdin M1,2. 1Fondazione Toscana Gabriele Monasterio, Italy. 2Institute of Life Sciences, Scuola Superiore Sant'Anna, Italy. 3Department of Clinical and Experimental Medicine, University of Pisa, Italy. KEYWORDS: Cardiac magnetic resonance; Duchenne/Becker muscular dystrophy; diagnosis; follow-up; muscular dystrophy; myotonic dystrophy; risk stratification PMID: 32418485 DOI:10.1177/2047487320923052
Open Heart. 2020 Apr 21;7(1):e001230. doi: 10.1136/openhrt-2019-001230. eCollection 2020. Exploring the acceptability of implantable defibrillators in patients with cardiac dystrophinopathy and carers. Hiermeier UM1, Baker C1, Bourke JP2,3. 1Department of Clinical Health Psychology, Royal Victoria Infirmary, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK. 2Department of Cardiology, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK. 3Institute of Translational and Clinical Research, Newcastle University, Newcastle upon Tyne, Tyne and Wear, UK. KEYWORDS: cardiomyopathy dilated; delivery of care; gene expression; implantable cardioverter defibrillator (ICD); sudden cardiac death PMID: 32399251 PMCID:PMC7204554 DOI:10.1136/openhrt-2019-001230 Free PMC Article
Dev Med Child Neurol. 2020 May 19. doi: 10.1111/dmcn.14568. [Epub ahead of print] What are the effects of treatments used to prevent or treat heart complications in Duchenne muscular dystrophy, Becker muscular dystrophy, and X-linked dilated cardiomyopathy? A Cochrane Review summary with commentary. Patrick Engkasan J1, Chan SC1. 1Department of Rehabilitation Medicine, University of Malaya, Kuala Lumpur, Malaysia. Related article (Bourke et al) is in Myobase : http://www.myobase.org/index.php?lvl=notice_display&id=70223 PMID: 32427344 DOI:10.1111/dmcn.14568
BMJ Case Rep. 2020 May 13;13(5). pii: e232920. doi: 10.1136/bcr-2019-232920. Immune checkpoint inhibitor-mediated myasthenia gravis with focal subclinical myocarditis progressing to symptomatic cardiac disease. Leaver PJ1,2, Jang HS3, Vernon ST2,4,5, Fernando SL3,5.
AFM-Téléthon (Service Documentation) – 25/05/2020 36/42
Bibliographie sur les maladies neuromusculaires Bibliography of neuromuscular disorders n° 2020-05-2 du 12 au 24 mai 2020 (May 12 to 24, 2020)
1Department of Clinical Immunology and Allergy, Royal North Shore Hospital, Sydney, New South Wales, Australia [email protected]. 2Department of Cardiology, Royal North Shore Hospital, Sydney, New South Wales, Australia. 3Department of Clinical Immunology and Allergy, Royal North Shore Hospital, Sydney, New South Wales, Australia. 4Cardiothoracic and Vascular Health, Kolling Institute of Medical Research, Northern Sydney Local Health District, New South Wales, Australia. 5Northern Clinical School, The University of Sydney, Sydney, New South Wales, Australia. KEYWORDS: heart failure; malignant disease and immunosuppression; radiology (diagnostics); skin cancer; unwanted effects / adverse reactions PMID: 32404371 DOI:10.1136/bcr-2019-232920
Paediatr Int Child Health. 2020 May 19:1-4. doi: 10.1080/20469047.2020.1765123. [Epub ahead of print] Juvenile dermatomyositis presenting as complete heart block in a 10-year-old girl. Ghosh R1, Roy D1, Dubey S2, Abdelrahman K3, Dey AK4, Chatterjee S5, Lahiri D6, Ray BK2. 1Department of General Medicine, Burdwan Medical College & Hospital, Burdwan, India. 2Department of Neuromedicine, Bangur Institute of Neurosciences, Institute of Postgraduate Medical Education and Research & SSKM Hospital, Kolkata, India. 3Dell Medical School, University of Texas, Austin, TX, USA. 4National Heart, Lung and Blood Institute, National Institutes of Health, Bethesda, MD, USA. 5Department of General Medicine, Rajendra Institute of Medical Sciences, Ranchi, India. 6Department of Neuromedicine, R. G. Kar Medical College & Hospital, Kolkata, India. KEYWORDS: Juvenile dermatomyositis; MRI; arrhythmia; cardiac; heart block; immunosuppression; myopathy PMID: 32427522 DOI:10.1080/20469047.2020.1765123
J Electrocardiol. 2020 May 11;60:209-211. doi: 10.1016/j.jelectrocard.2020.05.003. [Epub ahead of print] Pauses in atrial rhythm in a patient with limb-girdle muscular dystrophy: A case report. Miki T1, Shirayama T2, Shiraishi H2, Hirao Y2, Matoba S2. 1Department of Cardiovascular Medicine, Kyoto Prefectural University of Medicine, Kyoto, Japan. Electronic address: t- [email protected]. 2Department of Cardiovascular Medicine, Kyoto Prefectural University of Medicine, Kyoto, Japan. KEYWORDS: Limb-girdle muscular dystrophy; Pause in atrial rhythm; Permanent pacemaker implantation PMID: 32446110 DOI:10.1016/j.jelectrocard.2020.05.003
Minerva Pediatr. 2020 Apr;72(2):142-144. doi: 10.23736/S0026-4946.19.05496-3. "On air" diagnosis of sudden cardiac death with dynamic Holter ECG in glycogen storage disease type III young female. Focardi M1, Bosco A2, Bugelli V1,3, Defraia B1, Donati MA4, Pinchi V1. 1Section of Forensic Medical Sciences, Department of Health Sciences, University of Florence, Florence, Italy. 2Section of Forensic Medical Sciences, Department of Health Sciences, University of Florence, Florence, Italy - [email protected]. 3Department of Medicine and Health Sciences (DiMeS), University of Molise, Campobasso, Italy. 4Metabolic and Muscular Unit, Clinical of Pediatric Neurology, Meyer Children's Hospital, University of Florence, Florence, Italy. PMID: 32441908 DOI:10.23736/S0026-4946.19.05496-3
Électromyographie – Electromyography Acta Neurol Scand. 2020 May 20. doi: 10.1111/ane.13284. [Epub ahead of print] Associations between MRI and EMG findings in myopathies. Meyer HJ1, Schneider I2, Emmer A2, Kornhuber M2, Surov A3. 1Department of Diagnostic and Interventional Radiology, University of Leipzig, Leipzig, Germany. 2Department of Neurology, Martin-Luther-University Halle-Wittenberg, Halle (Saale), Germany. 3Department of Diagnostic and Interventional Radiology, University of Magdeburg, Magdeburg, Germany. KEYWORDS: MRI; electromyography; histogram analysis; myopathy; myositis PMID: 32436228 DOI:10.1111/ane.13284
AFM-Téléthon (Service Documentation) – 25/05/2020 37/42
Bibliographie sur les maladies neuromusculaires Bibliography of neuromuscular disorders n° 2020-05-2 du 12 au 24 mai 2020 (May 12 to 24, 2020)
Gastroentérologie / Nutrition – Gastroenterology / Nutrition J Pediatr Gastroenterol Nutr. 2020 May 11. doi: 10.1097/MPG.0000000000002771. [Epub ahead of print] Emotional Wellbeing in Parents of Children on Home Parenteral Nutrition. Halsey M1, Hodgson K1, Russell R2, Campion A1, Machado C1, Beattie RM2, Batra A2. 1Child Clinical Psychology, University Hospital Southampton, Tremona Road, Southampton, UK. 2Department of Paediatric Gastroenterology, University Hospital Southampton, Tremona Road, Southampton, UK. PMID: 32404755 DOI:10.1097/MPG.0000000000002771
Nutr Neurosci. 2020 May 22:1-21. doi: 10.1080/1028415X.2020.1760531. [Epub ahead of print] Curcumin and neurological diseases. Adami R1, Bottai D1. 1Department of Health Sciences, University of Milan, Milan, Italy. KEYWORDS: Alzheimer’s disease; Curcumin; Parkinson’s disease; amyotrophic lateral sclerosis; epilepsy; multiple sclerosis; spinal cord injury; spinal muscular atrophy PMID: 32441587 DOI:10.1080/1028415X.2020.1760531
Imagerie médicale – Medical imaging Acta Neurol Scand. 2020 May 20. doi: 10.1111/ane.13284. [Epub ahead of print] Associations between MRI and EMG findings in myopathies. Meyer HJ1, Schneider I2, Emmer A2, Kornhuber M2, Surov A3. 1Department of Diagnostic and Interventional Radiology, University of Leipzig, Leipzig, Germany. 2Department of Neurology, Martin-Luther-University Halle-Wittenberg, Halle (Saale), Germany. 3Department of Diagnostic and Interventional Radiology, University of Magdeburg, Magdeburg, Germany. KEYWORDS: MRI; electromyography; histogram analysis; myopathy; myositis PMID: 32436228 DOI:10.1111/ane.13284
AJNR Am J Neuroradiol. 2020 May 21. doi: 10.3174/ajnr.A6577. [Epub ahead of print] New MRI Findings in Fukuyama Congenital Muscular Dystrophy: Brain Stem and Venous System Anomalies. Hirasawa-Inoue A1, Sato N2, Shigemoto Y3, Kimura Y3, Ishiyama A1, Takeshita E1, Mori-Yoshimura M4, Oya Y4, Takahashi Y4, Komaki H1,5, Matsuda H6, Sasaki M1. 1From the Departments of Child Neurology (A.H.-I., A.I., E.T., H.K., M.S.). 2Radiology (N.S., Y.S., Y.K.) [email protected]. 3Radiology (N.S., Y.S., Y.K.). 4Neurology (M.M.-Y., Y.O., Y.T.). 5National Center Hospital, Translational Medical Center (H.K.). 6Integrative Brain Imaging Center (H.M.), National Center of Neurology and Psychiatry, Tokyo, Japan. PMID: 32439644 DOI:10.3174/ajnr.A6577
BMC Neurol. 2020 May 19;20(1):196. doi: 10.1186/s12883-020-01774-5. Longitudinal functional and imaging outcome measures in FKRP limb-girdle muscular dystrophy. Leung DG1,2, Bocchieri AE3, Ahlawat S4, Jacobs MA4,5, Parekh VS3,5, Braverman V3, Summerton K6, Mansour J7, Bibat G6, Morris C8, Marraffino S9, Wagner KR6,10,11. 1Center for Genetic Muscle Disorders, Hugo W. Moser Research Institute at Kennedy Krieger Institute, 716 North Broadway, Room 411, Baltimore, MD, 21205, USA. [email protected]. 2Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD, USA. [email protected]. 3Department of Computer Science, Johns Hopkins University, Baltimore, MD, USA. 4Department of Radiology and Radiological Science, Johns Hopkins University School of Medicine, Baltimore, MD, USA. 5The Sidney Kimmel Comprehensive Cancer Center, Johns Hopkins University School of Medicine, Baltimore, MD, USA. 6Center for Genetic Muscle Disorders, Hugo W. Moser Research Institute at Kennedy Krieger Institute, 716 North Broadway, Room 411, Baltimore, MD, 21205, USA. 7Tulane University School of Medicine, New Orleans, LA, USA. 8Solid Biosciences, Cambridge, MA, USA. 9Pfizer, Inc., Cambridge, MA, USA. 10Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
AFM-Téléthon (Service Documentation) – 25/05/2020 38/42
Bibliographie sur les maladies neuromusculaires Bibliography of neuromuscular disorders n° 2020-05-2 du 12 au 24 mai 2020 (May 12 to 24, 2020)
11Department of Neuroscience, Johns Hopkins University School of Medicine, Baltimore, MD, USA. KEYWORDS: Biomarkers; Convolutional neural network; Deep learning; FKRP; Limb-girdle muscular dystrophy; Tissue signatures; Whole-body MRI PMID: 32429923 DOI:10.1186/s12883-020-01774-5 Free full text
Acad Radiol. 2020 May 13. pii: S1076-6332(20)30215-4. [Epub ahead of print] The Diagnostic Value of MR IVIM and T2 Mapping in Differentiating Autoimmune Myositis From Muscular Dystrophy. Ran J1, Yin C1, Liu C1, Li Y1, Hou B1, Morelli JN2, Dai B3, Li X4. 1Department of Radiology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, No.1095, Jiefang Road, Wuhan 430030, Hubei Province, People's Republic of China. 2Russell H. Morgan Department of Radiology and Radiological Science, Johns Hopkins University School of Medicine, Baltimore, Maryland. 3Department of General Surgery, General Hospital of the Central Theater Command of the People's Liberation Army, Wuhan, People's Republic of China. 4Department of Radiology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, No.1095, Jiefang Road, Wuhan 430030, Hubei Province, People's Republic of China. Electronic address: [email protected]. KEYWORDS: Autoimmune myositis; Intravoxel incoherent motion; Magnetic resonance imaging; Muscular Dystrophy; T2 mapping PMID: 32417032 DOI:10.1016/j.acra.2020.04.022
Eur J Neurol. 2020 May 11. doi: 10.1111/ene.14303. [Epub ahead of print] Quantitative assessment of sciatic nerve changes in CMT1A patients using magnetic resonance neurography. Fortanier E1, Ogier AC2,3, Delmont E1,4, Lefebvre MN5, Viout P2, Guye M2, Bendahan D2, Attarian S1,6. 1APHM, Neurology Department, Reference Center for Neuromuscular Diseases and ALS, La Timone University Hospital, Aix-Marseille University, Marseille, France. 2Aix-Marseille University, CNRS, Center for Magnetic Resonance in Biology and Medicine, UMR CNRS 7339, Marseille, France. 3Aix Marseille Univ, Université de Toulon, CNRS, LIS, Marseille, France. 4Aix-Marseille University, UMR 7286, Marseille, France. 5APHM, CIC-CPCET, La Timone University Hospital, Aix-Marseille University, Marseille, France. 6Aix-Marseille University, Inserm, GMGF, Marseille, France. PMID: 32391944 DOI:10.1111/ene.14303
Médecine physique et de réadaptation – Physical and rehabilitation medicine BMC Neurol. 2020 May 13;20(1):184. doi: 10.1186/s12883-020-01725-0. Efficacy of a physical activity programme combining individualized aerobic exercise and coaching to improve physical fitness in neuromuscular diseases (I'M FINE): study protocol of a randomized controlled trial. Oorschot S1, Brehm MA2, van Groenestijn AC2, Koopman FS2, Verhamme C3, Eftimov F3, Jelsma JGM4, Jorstad HT5, Nollet F2, Voorn EL2. 1Department of Rehabilitation, Amsterdam Movement Sciences, Amsterdam UMC, University of Amsterdam, Meibergdreef 9, Amsterdam, The Netherlands. [email protected]. 2Department of Rehabilitation, Amsterdam Movement Sciences, Amsterdam UMC, University of Amsterdam, Meibergdreef 9, Amsterdam, The Netherlands. 3Department of Neurology, Amsterdam Neuroscience, Amsterdam UMC, University of Amsterdam, Meibergdreef 9, Amsterdam, The Netherlands. 4Department of Public and Occupational Health, Amsterdam UMC, VU University Medical Center, de Boelelaan 1118, Amsterdam, The Netherlands. 5Department of Cardiology, Amsterdam Movement Sciences, Amsterdam UMC, University of Amsterdam, Meibergdreef 9, Amsterdam, The Netherlands. KEYWORDS: Active lifestyle; Aerobic exercise; Coaching; Motivational interviewing; Neuromuscular diseases; Physical fitness PMID: 32404133 PMCID:PMC7218829 DOI:10.1186/s12883-020-01725-0 Free PMC Article
AFM-Téléthon (Service Documentation) – 25/05/2020 39/42
Bibliographie sur les maladies neuromusculaires Bibliography of neuromuscular disorders n° 2020-05-2 du 12 au 24 mai 2020 (May 12 to 24, 2020)
J Neuromuscul Dis. 2020 May 11. doi: 10.3233/JND-200470. [Epub ahead of print] Rehabilitation Following Fracture in Dystrophinopathy, A Case Series. Glanzman AM1, Jones J1, Thompson CZ1, Pendergast EA1, Beam M1, Hughes AL1, King M2,3, Brandsema J4,3, Horn B5,3. 1Department of Physical Therapy, Children's Hospital of Philadelphia, Philadelphia PA. 2Center for Rehabilitation, Children's Hospital of Philadelphia, Philadelphia PA. 3Perelman School of Medicine at The University of Pennsylvania, Philadelphia PA. 4Division of Neurology, Children's Hospital of Philadelphia, Philadelphia PA. 5Department of Orthopedics, Children's Hospital of Philadelphia, Philadelphia PA. PMID: 32417791 DOI:10.3233/JND-200470
J Neuromuscul Dis. 2020 May 11. doi: 10.3233/JND-200478. [Epub ahead of print] Assessing Physical Activity Using Accelerometers in Youth with Duchenne Muscular Dystrophy. Arteaga D1, Donnelly T2,3, Crum K4, Markham L5, Killian M6, Burnette WB7, Soslow J4, Buchowski MS2. 1School of Medicine, Vanderbilt University, Nashville, TN, USA. 2Energy Balance Laboratory, Division of Gastroenterology, Hepatology and Nutrition, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA. 3Diabetes Research and Training Center, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA. 4Division of Pediatric Cardiology, Department of Pediatrics, Vanderbilt University Medical Center, Nashville, TN, USA. 5Division of Cardiology, Department of Pediatrics, Riley Hospital for Children at Indiana University Health, Indianapolis, IN, USA. 6Department of Pediatrics, Vanderbilt University Medical Center, Nashville, TN, USA. 7Division of Pediatric Neurology, Department of Pediatrics, Vanderbilt University Medical Center, Nashville, TN, USA. KEYWORDS: Duchenne muscular dystrophy (DMD); accelerometry; ambulation; physical activity PMID: 32417792 DOI:10.3233/JND-200478
Ophtalmologie – Ophthalmology J Neuroophthalmol. 2020 Apr 16. doi: 10.1097/WNO.0000000000000965. [Epub ahead of print] Optic Neuropathy in Charcot-Marie-Tooth Disease. Hamedani AG1, Wilson JA, Avery RA, Scherer SS. 1Department of Neurology (AGH, JAW, RAA, SSS), Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania; Translational Center of Excellence for Neuroepidemiology and Neurology Outcomes Research (AGH), University of Pennsylvania, Philadelphia, Pennsylvania; Center for Clinical Epidemiology and Biostatistics (AGH), University of Pennsylvania, Philadelphia, Pennsylvania; Department of Ophthalmology (RAA), Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania; and Division of Ophthalmology (RAA), Children's Hospital of Philadelphia, Philadelphia, Pennsylvania. PMID: 32441898 DOI:10.1097/WNO.0000000000000965
Optom Vis Sci. 2020 May;97(5):377-382. doi: 10.1097/OPX.0000000000001512. Pseudopartial Third Nerve Palsy as the Presenting Sign of Ocular Myasthenia Gravis. Bertolet AN, Druckenbrod RC1. 1Department of Optometry, VA Boston Healthcare System, Boston, Massachusetts. PMID: 32413010 DOI:10.1097/OPX.0000000000001512
Neuroophthalmology. 2019 Oct 9;44(3):148-156. doi: 10.1080/01658107.2019.1660686. eCollection 2020 Jun. Preliminary Findings of a Dedicated Ocular Myasthenia Gravis Rating Scale: The OMGRate. Wong SH1, Eggenberger E2, Cornblath W3, Xhepa A1, Miranda E1, Lee H1, Burke A1, Barnett C4,5. 1Department of Neuro-ophthalmology, Moorfields Eye Hospital, London, UK. 2Department of Neuro-ophthalmology, Mayo Clinic Jacksonville, Jacksonville, FL, USA. 3Department of Neuro-ophthalmology, University of Michigan, Ann Arbor, MI, USA. 4Department of Medicine, Neurology, University Health Network and University of Toronto, Toronto, Canada. 5Institute of Health Policy, Management and Evaluation, Dalla Lana School of Public Health, University of Toronto, Toronto, Canada. KEYWORDS: Ocular myasthenia gravis; myasthenia gravis; rating scales; severity PMID: 32395166 PMCID:PMC7202437 [Available on 2020-10-09] DOI: 10.1080/01658107.2019.1660686
AFM-Téléthon (Service Documentation) – 25/05/2020 40/42
Bibliographie sur les maladies neuromusculaires Bibliography of neuromuscular disorders n° 2020-05-2 du 12 au 24 mai 2020 (May 12 to 24, 2020)
Pneumologie – Pulmonogy Pediatr Pulmonol. 2020 May 11. doi: 10.1002/ppul.24814. [Epub ahead of print] Ultrasound assessment of diaphragmatic function in type 1 spinal muscular atrophy. Buonsenso D1,2, Berti B3, Palermo C3, Leone D3, Ferrantini G3, De Sanctis R3, Onesimo R1, Curatola A1, Fanelli L3, Forcina N3, Norcia G3, Carnicella S3, Lucibello S3, Mercuri E2,3, Pane M2,3. 1Paediatric Unit, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli IRCCS, Roma, Italia. 2Istituto di Pediatria, Università Cattolica del Sacro Cuore, Roma, Italia. 3Department of Woman and Child Health and Public Health, Paediatric Neurology and Neuromuscular Omnicentre Clinical Center, Fondazione Policlinico A. Gemelli IRCCS, Roma, Italia. KEYWORDS: diaphragm; spinal muscular atrophy; ultrasound PMID: 32394611 DOI:10.1002/ppul.24814
Expert Rev Respir Med. 2020 May 12. doi: 10.1080/17476348.2020.1767598. [Epub ahead of print] Lung involvement associated with anti-NXP2 autoantibodies in inflammatory myopathies: a French monocenter series. Bermudez J1,2, Heim X2,3, Bertin D3, Coulon B3, Puech B4, Bardin N2,3, Reynaud-Gaubert M1,5. 1Assistance Publique Hôpitaux de Marseille. Hôpital Nord. Service de Pneumologie, Centre de Compétence national des maladies pulmonaires rares, Marseille, France. 2Aix Marseille Université. INSERM. Centre de recherche en CardioVasculaire et Nutrition C2VN. Marseille, France. 3Assistance Publique Hôpitaux de Marseille. Hôpital La Conception. Laboratoire d'Immuno-Hématologie, Marseille, France. 4Assistance Publique Hôpitaux de Marseille, Hôpital Nord, Service de Radiologie, Marseille, France. 5Aix-Marseille Université, MEPHI, IHU-Méditerranée Infection, Marseille, France. KEYWORDS: Anti NXP2 antibodies; Auto immune lung disease; Dermatomyositis; Interstitial Lung Disease; Myositis Specific Antibody PMID: 32394768 DOI:10.1080/17476348.2020.1767598
Chest. 2020 May 16. pii: S0012-3692(20)31408-2. doi: 10.1016/j.chest.2020.04.057. [Epub ahead of print] Mortality risk prediction in amyopathic dermatomyositis associated with interstitial lung disease: the FLAIR model. Lian X1, Zou J2, Guo Q1, Chen S1, Lu L1, Wang R1, Zhou M1, Fu Q3, Ye Y4, Bao C5. 1Department of Rheumatology, Renji Hospital, School of Medicine, Shanghai Jiaotong University, Shanghai 200001, China. 2Department of Pneumology, Renji Hospital, School of Medicine, Shanghai Jiaotong University, Shanghai 200001, China. 3Department of Rheumatology, Renji Hospital, School of Medicine, Shanghai Jiaotong University, Shanghai 200001, China. Electronic address: [email protected]. 4Department of Rheumatology, Renji Hospital, School of Medicine, Shanghai Jiaotong University, Shanghai 200001, China. Electronic address: [email protected]. 5Department of Rheumatology, Renji Hospital, School of Medicine, Shanghai Jiaotong University, Shanghai 200001, China. Electronic address: [email protected]. KEYWORDS: ADM-ILD; Prognosis; Risk score model PMID: 32428508 DOI:10.1016/j.chest.2020.04.057
Ultrasound J. 2020 May 15;12(1):27. doi: 10.1186/s13089-020-00174-7. Combined ultrasound-CT approach to monitor acute exacerbation of interstitial lung disease. Mongodi S1, Colombo A2, Orlando A3, Cavagna L4, Bouhemad B5,6, Iotti GA3,2, Mojoli F3,2. 1Anaesthesia and Intensive Care, San Matteo Hospital, Viale Golgi 19, Pavia, Italy. [email protected]. 2Department of Clinical-Surgical, Diagnostic and Paediatric Sciences, Unit of Anaesthesia and Intensive Care, University of Pavia, Pavia, Italy. 3Anaesthesia and Intensive Care, San Matteo Hospital, Viale Golgi 19, Pavia, Italy. 4Division of Rheumatology, University of Pavia, San Matteo Hospital, Pavia, Italy. 5Dijon and Université Bourgogne Franche-Comté LNC UMR866, F-21000 Dijon, BP 77908, Dijon Cedex, 21709, France. 6Department of Anesthesiology and Intensive Care, C.H.U. Dijon, Dijon Cedex, France. KEYWORDS: ECMO; High-resolution CT; Interstitial lung disease; Lung monitoring; Lung ultrasound PMID: 32409952 PMCID:PMC7224726 DOI:10.1186/s13089-020-00174-7 Free PMC Article
AFM-Téléthon (Service Documentation) – 25/05/2020 41/42
Bibliographie sur les maladies neuromusculaires Bibliography of neuromuscular disorders n° 2020-05-2 du 12 au 24 mai 2020 (May 12 to 24, 2020)
Ann Rehabil Med. 2020 Apr;44(2):165-170. doi: 10.5535/arm.2020.44.2.165. Epub 2020 Apr 29. Precise Pulmonary Function Evaluation and Management of a Patient With Freeman-Sheldon Syndrome Associated With Recurrent Pneumonia and Chronic Respiratory Insufficiency. Park J1,2, Kang SW1,2, Choi WA1,2, Lee Y1,2, Cho HE1,2. 1Department of Rehabilitation Medicine and Rehabilitation Institute of Neuromuscular Disease, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul, Korea. 2Pulmonary Rehabilitation Center, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul, Korea. KEYWORDS: Freeman-Sheldon syndrome; Respiratory function tests; Respiratory insufficiency PMID: 32392656 PMCID:PMC7214134 DOI: 10.5535/arm.2020.44.2.165 Free PMC Article
AFM-Téléthon (Service Documentation) – 25/05/2020 42/42