Veille Neuromusculaire / Neuromuscular bibliography Bibliographie sur les maladies neuromusculaires / Bibliography on neuromuscular disorders n° 2019-05-1 du 1 au 12 Mai 2019 (Mai 1 to 12, 2019)
Publiée tous les 15 jours par le service de documentation de l'AFM-Téléthon, la "Veille Neuromusculaire" contient les dernières références intégrées dans Pubmed. La liste des pathologies concernées par cette veille est celle de la Fiche Technique Savoir & Comprendre "Avancées médico-scientifiques neuromusculaires" publiée par l'AFM-Téléthon et mise à jour en octobre 2012. Vous trouverez les veilles précédentes sur notre portail documentaire dédié aux maladies neuromusculaires Myobase
Every two weeks, you will find in the “Neuromuscular Bibliography” the latest references published in Pubmed. The list of covered diseases comes from the October 2012 publication "Avancées médico-scientifiques neuromusculaires", Fiche technique Savoir & Comprendre published by AFM-Téléthon. Previous reports are available on Myobase, the information tool about neuromuscular diseases.
Sommaire par maladies / Diseases Amyotrophie spinale avec détresse respiratoire – Spinal muscular atrophy with respiratory distress (SMARD) ...... 3 Amyotrophie spinale proximale liée à SMN1 – SMN1-related spinal muscular atrophy (SMA) ...... 3 Amyotrophies spinales distales – Distal spinal muscular atrophies ...... 4 Dystrophies musculaires congénitales – Congenital muscular dystrophies ...... 5 Dystrophinopathies, dystrophie musculaire de Duchenne, dystrophie musculaire de Becker – Dystrophinopathies ...... 6 Dystrophies musculaires des ceintures – Limb-girdle muscular dystrophies ...... 10 Dystrophie musculaire facioscapulohumérale – Facioscapulohumeral muscular dystrophy (FSHD) 11 Dystrophie musculaire oculopharyngée (DMOP) – Oculopharyngeal muscular dystrophy (OPMD) ... 12 Dystrophies myotoniques – Myotonic dystrophies ...... 12 Fibrodysplasie ossifiante progressive (FOP) – Fibrodysplasia ossificans progressiva ...... 13 Laminopathies – Laminopathies ...... 14 Maladie de Charcot-Marie-Tooth – Charcot-Marie-Tooth disease ...... 14 Myasthénie autoimmune – Myasthenia gravis ...... 16 Myopathies congénitales – Congenital myopathies ...... 19 Myopathies liées à la cavéoline 3 – CAV3 related myopathies ...... 20 Myopathies liées à GNE – GNE myopathies ...... 20 Myopathies inflammatoires – Inflammatory myopathies ...... 21 Maladie de Pompe – Pompe disease ...... 24 Myopathies mitochondriales – Mitochondrial myopathies ...... 25 Titinopathies – Titinopathies ...... 27 Syndrome de Lambert-Eaton – Lambert-eaton myasthenic syndrome ...... 28 Syndrome myasthénique congénital – Congenital Myasthenic Syndrome...... 28 Maladies neuromusculaires (plusieurs pathologies) – Neuromuscular diseases (Multiple) ...... 28 Divers – Miscellaneous ...... 30 Sommaire par spécialités / specialties Anatomopathologie – Anatomical pathology ...... 31 Cardiologie – Cardiology ...... 31
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Veille Neuromusculaire / Neuromuscular bibliography Bibliographie sur les maladies neuromusculaires / Bibliography on neuromuscular disorders n° 2019-05-1 du 1 au 12 Mai 2019 (Mai 1 to 12, 2019)
Douleur – Pain ...... 33 Gastroentérologie / Nutrition – Gastroenterology / Nutrition ...... 33 Médecine physique et de réadaptation – Physical and rehabilitation medicine ...... 33 Ophtalmologie – Ophthalmology ...... 34 Pneumologie – Pulmonogy ...... 34
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Veille Neuromusculaire / Neuromuscular bibliography Bibliographie sur les maladies neuromusculaires / Bibliography on neuromuscular disorders n° 2019-05-1 du 1 au 12 Mai 2019 (Mai 1 to 12, 2019)
Amyotrophie spinale avec détresse respiratoire – Spinal muscular atrophy with respiratory distress (SMARD) 1. J Pediatr Intensive Care. 2018 Sep;7(3):159-162. doi: 10.1055/s-0037-1617434. Epub 2018 Jan 4. Distal Spinal Muscular Atrophy: An Overlooked Etiology of Weaning Failure in Children with Respiratory Insufficiency. Habibi Zoham M1, Eghbalkhah A1, Kamrani K2, Khosroshahi N3, Yousefimanesh H1, Eskandarizadeh Z1. 1Department of Pediatric Intensive Care Unit, Bahrami Children's Hospital, Tehran University of Medical Sciences, Tehran, Islamic Republic of Iran. 2Department of Neonatal Intensive Care Unit, Bahrami Children's Hospital, Tehran University of Medical Sciences, Tehran, Islamic Republic of Iran. 3Department of Pediatric Neurology, Bahrami Children's Hospital, Tehran University of Medical Sciences, Tehran, Islamic Republic of Iran. Keywords: diaphragmatic paralysis; respiratory insufficiency; spinal muscular atrophy PMID: 31073488 PMCID: PMC6260352 [Available on 2019-09-01] DOI: 10.1055/s-0037-1617434
Amyotrophie spinale proximale liée à SMN1 – SMN1-related spinal muscular atrophy (SMA) 2. Nat Rev Neurol. 2019 May 7. doi: 10.1038/s41582-019-0202-4. [Epub ahead of print] Long-term benefits of nusinersen in later-onset spinal muscular atrophy. Fyfe I1. 1Nature Reviews Neurology. [email protected]. PMID: 31065075 DOI: 10.1038/s41582-019-0202-4
3. Biochem Biophys Res Commun. 2019 May 3. pii: S0006-291X(19)30833-2. [Epub ahead of print] Interaction between alpha-COP and SMN ameliorates disease phenotype in a mouse model of spinal muscular atrophy. Custer SK1, Astroski JW2, Li HX2, Androphy EJ2. 1Indiana University School of Medicine, Dermatology, Indianapolis, IN, USA. Electronic address: [email protected]. 2Indiana University School of Medicine, Dermatology, Indianapolis, IN, USA. PMID: 31060774 DOI: 10.1016/j.bbrc.2019.04.176
4. Fetal Pediatr Pathol. 2019 May 7:1-13. doi: 10.1080/15513815.2018.1520374. [Epub ahead of print] Spinal Muscular Atrophy and Common Therapeutic Advances. Bozorg Qomi S1,2, Asghari A3, Salmaninejad A4, Mojarrad M1,2. 1a Department of Medical Genetics, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran. 2b Medical Genetics Research Center, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran. 3c Department of Medical Physiology, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran. 4d Drug Applied Research Center, Student Research Committee, Tabriz University of Medical Sciences, Tabriz, Iran. Keywords: SMN1; SMN2; Spinal muscular atrophy; gene therapy; therapeutic approaches PMID: 31060440 DOI: 10.1080/15513815.2018.1520374
5. Clin Ther. 2019 May 3. pii: S0149-2918(19)30127-4. doi: 10.1016/j.clinthera.2019.03.012. [Epub ahead of print] Evaluating Benefit-Risk Decision-making in Spinal Muscular Atrophy: A first-Ever Study to Assess Risk Tolerance in the SMA Patient Community. Cruz R1, Belter L2, Wasnock M3, Nazarelli A3, Jarecki J2. 1Cure SMA, Chicago, IL, USA. Electronic address: [email protected]. 2Cure SMA, Chicago, IL, USA. 3Silicon Valley Research Group, Inc, San Jose, CA, USA. Keywords: benefit–risk assessment; best-worst scaling; drug development; patients and caregivers; rare disease; risk tolerance; spinal muscular atrophy (SMA) PMID: 31056304 DOI: 10.1016/j.clinthera.2019.03.012
6. Eur J Hum Genet. 2019 May 3. doi: 10.1038/s41431-019-0415-4. [Epub ahead of print] Perspectives in genetic counseling for spinal muscular atrophy in the new therapeutic era: early pre- symptomatic intervention and test in minors. Serra-Juhe C1, Tizzano EF2,3.
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Veille Neuromusculaire / Neuromuscular bibliography Bibliographie sur les maladies neuromusculaires / Bibliography on neuromuscular disorders n° 2019-05-1 du 1 au 12 Mai 2019 (Mai 1 to 12, 2019)
1Department of Clinical and Molecular Genetics Hospital Valle Hebron, Medicine Genetics Group VHIR, Barcelona, Spain. 2Department of Clinical and Molecular Genetics Hospital Valle Hebron, Medicine Genetics Group VHIR, Barcelona, Spain. [email protected]. 3CIBERER, Barcelona, Spain. [email protected]. PMID: 31053787 DOI: 10.1038/s41431-019-0415-4
7. Aust Prescr. 2019 Apr;42(2):75-76. doi: 10.18773/austprescr.2019.019. Epub 2019 Feb 28. Nusinersen for spinal muscular atrophy. [No authors listed] Keywords: Nusinersen; Spinraza; spinal muscular atrophy PMID: 31048944 PMCID: PMC6478952 DOI: 10.18773/austprescr.2019.019
8. Biochim Biophys Acta Gene Regul Mech. 2019 Apr 28;1862(6):634-642.[Epub ahead of print] A novel role of U1 snRNP: Splice site selection from a distance. Singh RN1, Singh NN2. 1Department of Biomedical Sciences, Iowa State University, Ames, IA 50011, United States of America. Electronic address: [email protected]. 2Department of Biomedical Sciences, Iowa State University, Ames, IA 50011, United States of America. Keywords: Cryptic splice site; ISS-N1; SMA; SMN; Splicing; U1 snRNP PMID: 31042550 DOI: 10.1016/j.bbagrm.2019.04.004
9. Neuromuscul Disord. 2019 Mar 14. pii: S0960-8966(18)31222-7. [Epub ahead of print] Thoracic circumference: A new outcome measure in spinal muscular atrophy type 1? Ropars J1, Barnerias C2, Hully M2, Chabalier D2, Peudenier S3, Barzic A3, Cros P3, Desguerre I2. 1Service de pédiatrie, CHRU de Brest, 2 Avenue Foch, 29609 Brest, France; Laboratoire de Traitement de l'Information Médicale INSERM U1101, Brest, France. Electronic address: [email protected]. 2Hôpital Necker Enfants Malades, APHP, Paris. 3Service de pédiatrie, CHRU de Brest, 2 Avenue Foch, 29609 Brest, France. Keywords: Disease progression; Neuromuscular disorder; Outcome measure; Respiratory function; Spinal muscular atrophy PMID: 31040038 DOI: 10.1016/j.nmd.2019.03.003
10. Curr Treat Options Neurol. 2019 Apr 29;21(6):25. doi: 10.1007/s11940-019-0568-z. Current Treatment Options in Neurology-SMA Therapeutics. Waldrop MA1,2,3, Kolb SJ4,5. 1Center for Gene Therapy, Nationwide Children's Hospital, Columbus, OH, USA. 2Department of Pediatrics, The Ohio State University Wexner Medical Center, Columbus, OH, USA. 3Department of Neurology, The Ohio State University Wexner Medical Center, Columbus, OH, USA. 4Department of Neurology, The Ohio State University Wexner Medical Center, Columbus, OH, USA. [email protected]. 5Department of Biological Chemistry & Pharmacology, The Ohio State University Wexner Medical Center, Columbus, OH, USA. [email protected]. Keywords: Antisense oligonucleotide; Gene therapy; Nusinersen; Spinal muscular atrophy PMID: 31037425 DOI: 10.1007/s11940-019-0568-z
Amyotrophies spinales distales – Distal spinal muscular atrophies 11. Neurol Genet. 2019 Mar 7;5(2):e312. doi: 10.1212/NXG.0000000000000312. eCollection 2019 Apr. Homozygous TRPV4 mutation causes congenital distal spinal muscular atrophy and arthrogryposis. Velilla J1, Marchetti MM1, Toth-Petroczy A1, Grosgogeat C1, Bennett AH1, Carmichael N1, Estrella E1, Darras BT1, Frank NY1, Krier J1, Gaudet R1, Gupta VA1. 1Department of Molecular and Cellular Biology (J.V., R.G.), Harvard University, Cambridge; Division of Genetics (M.M.M., A.T.-P., C.G., A.H.B., N.C., B.T.D., N.Y.F., J.K., V.A.G.), Brigham Genomic Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston; Division of Genetics (E.E.), Boston Children's Hospital; and Division of Neurology (B.T.D.), Boston Children's Hospital, Harvard Medical School, MA. PMID: 31041394 PMCID: PMC6454305 DOI:10.1212/NXG.0000000000000312
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Veille Neuromusculaire / Neuromuscular bibliography Bibliographie sur les maladies neuromusculaires / Bibliography on neuromuscular disorders n° 2019-05-1 du 1 au 12 Mai 2019 (Mai 1 to 12, 2019)
Dystrophies musculaires congénitales – Congenital muscular dystrophies 12. Hum Genome Var. 2019 Apr 26;6:21. doi: 10.1038/s41439-019-0052-z. eCollection 2019. Two closely spaced mutations in cis result in Ullrich congenital muscular dystrophy. Shimomura H1, Lee T1, Tanaka Y1, Awano H2, Itoh K3, Nishino I4, Takeshima Y1. 1Department of Pediatrics, Hyogo College of Medicine, Nishinomiya, Japan. 2Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan. 3Department of Pathology and Applied Neurobiology, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, Kyoto, Japan. 4Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan. Keywords: Disease genetics; Neuromuscular disease PMID: 31044083 PMCID: PMC6486579 DOI: 10.1038/s41439-019-0052-z
13. Clin Genet. 2019 May 8. doi: 10.1111/cge.13560. [Epub ahead of print] Congenital muscular dystrophies in China. Ge L1, Zhang C2, Wang Z3, Chan SH4, Zhu W5, Han C6, Zhang X7, Zheng H8, Wu L9, Jin B10, Shan J11, Mao B12, Zhong J13, Peng X14, Cheng Y15, Hu J16, Sun Y17, Lu J18, Hua Y19, Zhu S20, Wei C1, Wang S1, Jiao H1, Yang H1, Fu X1, Fan Y1, Chang X1, Wang S1, Bao X1, Zhang Y1, Wang J1, Wu Y1, Jiang Y1, Yuan Y3, Rutkowski A21, Bönnemann CG22, Wei W23, Wu X1, Xiong H1. 1Department of Pediatrics, Peking University First Hospital, Beijing, 100034, China. 2Department of Neurology, First Affiliated Hospital of Sun Yat-Sen University, Guangzhou, 510080, Guangdong, China. 3Department of Neurology, Peking University First Hospital, Beijing, 100034, China. 4Department of Pediatrics & Adolescent Medicine, The University of Hong Kong Queen Mary Hospital, Hong Kong, China. 5Department of Neurology, Huashan Hospital, Fudan University, Shanghai, 200040, China. 6Department of Neurology, Shenzhen Children's Hospital, Shenzhen, 518026, Guangdong, China. 7Department of Pediatrics, The Third Affiliated Hospital of Zhengzhou University, Zhengzhou, 450052, Henan, China. 8Department of Pediatrics, The First Affiliated Hospital of Henan University of Traditional Chinese Medicine, Zhengzhou, 450000, Henan, China. 9Department of Pediatrics, Xiangya Hospital of Central South University, Changsha, 410008, Hunan, China. 10Department of Neurology, Nanjing Children's Hospital, Nanjing, 210008, Jiangsu, China. 11Department of Neurology, Qilu Hospital, Shandong University, Jinan, 250012, Shandong, China. 12Department of Neurology, Wuhan Children's Hospital, Wuhan, 430015, Hubei, China. 13Department of Neurology, Jiangxi Previncial Children's Hospital, Nanchang, 518026, Jiangxi, China. 14Department of Neurology, Capital Institute of Pediatrics, Beijing, 10020, China. 15Department of Pediatrics, Hebei People's Hospital, Shijiazhuang, 050051, Hebei, China. 16Department of Pediatrics, Xiehe Affiliated Hospital of Fujian Medical University, Fuzhou, 350000, Fujian, China. 17Department of Pediatrics, Xinjiang Uygur Autonomous Region People's Hospital, Urumchi, 830001, Xinjiang Uygur Autonomous Region, China. 18Department of Neurology, Beijing Children's Hospital, Beijing, 100045, China. 19Department of Neurology, Wuxi Children's Hospital, Wuxi, 214002, Jiangsu, China. 20Department of Statistics, Peking University First Hospital, Beijing, 100034, China. 21Kaiser Permanente SCPMG Cure CMD, Los Angeles, California, USA. 22Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA. 23Kangso medical inspection, Beijing, China. Keywords: congenital muscular dystrophy; nationwide population study; prevalence PMID: 31066047 DOI: 10.1111/cge.13560
14. Neurol Genet. 2019 Mar 1;5(2):e315. doi: 10.1212/NXG.0000000000000315. eCollection 2019 Apr. Clinical, genetic, and pathologic characterization of FKRP Mexican founder mutation c.1387A>G. Lee AJ1, Jones KA1, Butterfield RJ1, Cox MO1, Konersman CG1, Grosmann C1, Abdenur JE1, Boyer M1, Beson B1, Wang C1, Dowling JJ1, Gibbons MA1, Ballard A1, Janas JS1, Leshner RT1, Donkervoort S1, Bönnemann CG1, Malicki DM1, Weiss RB1, Moore SA1, Mathews KD1. 1University of Iowa (A.J.L.), Carver College of Medicine; Department of Pathology (K.A.J., M.O.C., S.A.M.), University of Iowa; Departments of Pediatrics and Neurology (R.J.B.), University of Utah; Department of Neurology (C.G.K.), University of California San Diego; Department of Neurology (C.G.), Gillette Children's Specialty Healthcare; Division of Metabolic Disorders (J.E.A., M.B.), CHOC Children's; Department of Neurology (B.B.), Integris Southwest Medical Center; Departments of Pediatrics and Neurology (C.W.), Driscoll Children's Hospital; Departments of Paediatrics and Molecular Genetics (J.J.D.), Hospital for Sick Children, University of Toronto; Departments of Pediatrics and Neurology (M.A.G., J.S.J.), University of Colorado; Department of Physical Medicine and Rehabilitation (A.B.), University of Colorado;
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Veille Neuromusculaire / Neuromuscular bibliography Bibliographie sur les maladies neuromusculaires / Bibliography on neuromuscular disorders n° 2019-05-1 du 1 au 12 Mai 2019 (Mai 1 to 12, 2019)
Department of Neurosciences (R.T.L.), University of California San Diego; National Institutes of Health (S.D., C.G.B.), Institute of Neurological Disorders and Stroke; Department of Pathology (D.M.M.), University of California San Diego; Department of Human Genetics (R.B.W.), University of Utah; and Departments of Pediatrics and Neurology (K.D.M.), University of Iowa. PMID: 31041397 PMCID: PMC6454397 DOI: 10.1212/NXG.0000000000000315
15. Neuromuscul Disord. 2019 Apr 10. pii: S0960-8966(18)31409-3. [Epub ahead of print] Exome sequencing detects compound heterozygous nonsense LAMA2 mutations in two siblings with atypical phenotype and nearly normal brain MRI. Saredi S1, Gibertini S1, Matalonga L2, Farina L3, Ardissone A4, Moroni I4, Mora M5. 1Muscle Cell Biology Lab, Neuromuscular Diseases and Neuroimmunology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Via Temolo 4, 20126 Milano, Italy. 2CNAG-CRG, Centre for Genomic Regulation (CRG), Barcelona Institute of Science and Technology, Baldiri Reixac 4, Barcelona 08028, Spain. 3Neuroradiology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy. 4Child Neurology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy. 5Muscle Cell Biology Lab, Neuromuscular Diseases and Neuroimmunology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Via Temolo 4, 20126 Milano, Italy. Electronic address: [email protected]. Keywords: Congenital muscular dystrophy type 1A; LAMA2; Laminin-α2; WES PMID: 31040037 DOI: 10.1016/j.nmd.2019.04.001
Dystrophinopathies, dystrophie musculaire de Duchenne, dystrophie musculaire de Becker – Dystrophinopathies 16. Orphanet J Rare Dis. 2019 May 10;14(1):105. doi: 10.1186/s13023-019-1066-9. Effect and safety of treatment with ACE-inhibitor Enalapril and β-blocker metoprolol on the onset of left ventricular dysfunction in Duchenne muscular dystrophy - a randomized, double-blind, placebo- controlled trial. Dittrich S1,2, Graf E3, Trollmann R4, Neudorf U5, Schara U6, Heilmann A7, von der Hagen M8, Stiller B9, Kirschner J10, Pozza RD11, Müller-Felber W12, Weiss K13, von Au K14, Khalil M15, Motz R16, Korenke C17, Lange M18, Wilichowski E19, Pattathu J20, Ebinger F21, Wiechmann N22, Schröder R23; German Competence Network for Congenital Heart Defects and the Treat- NMD Neuromuscular Network Investigators list of additional local Investigators and co-workers of the German Competence Network for Congenital Heart Defects and the Treat-NMD Neuromuscular Network. Collaborators (21) 1Department Pediatric Cardiology, Erlangen University Hospital, Friedrich-Alexander Universität Erlangen-Nürnberg, Loschgestraße 15, 91054, Erlangen, Germany. [email protected]. 2German Competence Network for Congenital Heart Defects partner site, Berlin, Germany. [email protected]. 3Institute of Medical Biometry and Statistics, Clinical Trials Unit, Faculty of Medicine and Medical Center, University of Freiburg, Freiburg, Germany. 4Department of Pediatrics, Division of Pediatric Neurology, Erlangen University Hospital, Friedrich-Alexander Universität Erlangen-Nürnberg, Erlangen, Germany. 5Clinic for Pediatrics III, University Hospital Essen, Essen, Germany. 6Department of Neuropediatrics, University Hospital Essen, Essen, Germany. 7Department of Pediatrics, University Hospital Carl Gustav Carus, Dresden, Germany. 8Department of Neurological Surgery, University Hospital Carl-Gustav-Carus, Technical University of Dresden, Dresden, Germany. 9Department of Congenital Heart Disease and Pediatric Cardiology, University Heart Center Freiburg, Bad Krozingen, Freiburg, Germany. 10Department of Neuropediatrics and Muscle Disorders, University Medical Center, Freiburg, Germany. 11Department of Pediatric Cardiology, Ludwig Maximilians-University of Munich, Munich, Germany. 12Department of Pediatric Neurology and Developmental Medicine, Ludwig-Maximilians- University of Munich, Munich, Germany. 13Pediatric Cardiology and Congenital Heart Disease, University Hospital Charité, Berlin, Germany. 14Department of Pediatrics, Division of Neurology, University Hospital Charité, Berlin, Germany. 15Division of Pediatric Heart Surgery, Pediatric Heart Center, University Hospital UKGM, Justus-Liebig University, Giessen, Germany. 16Department of Pediatric Cardiology, Elisabeth Children's Hospital, Oldenburg, Germany. 17Department of Pediatric Neurology, Oldenburg, Germany. 18Department of Pediatric Cardiology and Intensive Care Medicine, Heart Center, University Medical Center Göttingen, Göttingen, Germany. 19Department of Pediatrics and Adolescent Medicine, Division of Pediatric Neurology, University Medical Center Göttingen, Göttingen, Germany.
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Veille Neuromusculaire / Neuromuscular bibliography Bibliographie sur les maladies neuromusculaires / Bibliography on neuromuscular disorders n° 2019-05-1 du 1 au 12 Mai 2019 (Mai 1 to 12, 2019)
20Department of Pediatric Cardiology, University of Heidelberg, Heidelberg, Germany. 21Pediatric Neurology, University of Heidelberg, Heidelberg, Germany. 22Clinical Trials Unit of the Medical Center, University of Freiburg, Freiburg, Germany. 23Institute of Neuropathology, Erlangen University Hospital, Erlangen, Germany. Keywords: ACE-inhibitors; Cardiomyopathy; Duchenne muscular dystrophy; ß-blockers PMID: 31077250 DOI: 10.1186/s13023-019-1066-9
17. Mol Neurobiol. 2019 May 10. doi: 10.1007/s12035-019-1573-7. [Epub ahead of print] Neurocognitive Impairment in mdx Mice. Comim CM1, Ventura L2, Freiberger V2, Dias P2, Bragagnolo D2, Dutra ML2, Amaral RA2, Camargo-Fagundes ALS3, Reis PA4, Castro-Faria-Neto HC4, Vainzof M5, Rosa MI3. 1Research Group on Neurodevelopment of Childhood and Adolescence, Laboratory of Experimental Neuroscience, Postgraduate Program in Health Sciences, University of South Santa Catarina, Palhoça, SC, Brazil. [email protected]. 2Research Group on Neurodevelopment of Childhood and Adolescence, Laboratory of Experimental Neuroscience, Postgraduate Program in Health Sciences, University of South Santa Catarina, Palhoça, SC, Brazil. 3Laboratory of Epidemiology, Postgraduate Program in Health Sciences, Health Sciences Unit, University of Southern Santa Catarina, Criciúma, SC, 88806-000, Brazil. 4Laboratory of Immunopharmacology, Instituto Oswaldo Cruz/IOC/FIOCRUZ-Manguinhos, Rio de Janeiro, Brazil. 5Human Genome Research Center, Biosciences Institute, University of São Paulo, São Paulo, SP, Brazil. Keywords: Cognition; Duchenne muscular dystrophy; Inflammation; Memory and learning; mdx mice PMID: 31077034 DOI: 10.1007/s12035-019-1573-7
18. Orphanet J Rare Dis. 2019 May 9;14(1):102. doi: 10.1186/s13023-019-1069-6. Priorities when deciding on participation in early-phase gene therapy trials for Duchenne muscular dystrophy: a best-worst scaling experiment in caregivers and adult patients. Paquin RS1, Fischer R2, Mansfield C3, Mange B3, Beaverson K4, Ganot A5, Martin AS6, Morris C5, Rensch C2, Ricotti V5, Russo LJ4, Sadosky A4, Smith EC7, Peay HL8. 1RTI International, Research Triangle Park, North Carolina, USA. 2Parent Project Muscular Dystrophy, Hackensack, NJ, USA. 3RTI Health Solutions, Research Triangle Park, North Carolina, USA. 4Pfizer, Inc, New York, NY, USA. 5Solid Biosciences, Cambridge, MA, USA. 6UCLA, California, Los Angeles, USA. 7Duke University, Durham, North Carolina, USA. 8RTI International, Research Triangle Park, North Carolina, USA. [email protected]. Keywords: Best-worst scaling; Duchenne muscular dystrophy; Gene therapy; Stated preference PMID: 31072340 DOI: 10.1186/s13023-019-1069-6
19. Prenat Diagn. 2019 May 8. doi: 10.1002/pd.5473. [Epub ahead of print] X-chromosome inactivation pattern of amniocytes predicts the risk of dystrophinopathy in fetal carriers of DMD mutations. He WB1,2, Du J1,2, Xie PY3,4, Zhou S1,3, Zhang YX1, Lu GX1,2, Lin G1,2, Li W1,2, Tan YQ1,2. 1Institute of Reproductive and Stem Cell Engineering, School of Basic Medical Science, Central South University, Changsha, Hunan, 410078, Chin. 2Reproductive and Genetic Hospital of CITIC-Xiangya, Changsha, Hunan, 410078, China. 3National Engineering and Research Center of Human Stem Cells, Changsha, Hunan, 410078, China. 4Hunan Normal University School of Medicine, Changsha, Hunan, 410081, China. PMID: 31069818 DOI: 10.1002/pd.5473
20. Hum Gene Ther Methods. 2019 May 7. doi: 10.1089/hgtb.2018.187. [Epub ahead of print] The development of CRISPR-mediated systems in the study of Duchenne muscular dystrophy. Cai A1, Kong X2. 1The First Affiliated Hospital of Zhengzhou University, Zhengzhou, China ; [email protected]. 2The First Affiliated Hospital of Zhengzhou University, Zhengzhou, China ; [email protected]. PMID: 31062609 DOI: 10.1089/hgtb.2018.187
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21. JACC Basic Transl Sci. 2019 Apr 29;4(2):275-287. doi: 10.1016/j.jacbts.2019.01.009. eCollection 2019 Apr. Cardiac Muscle Membrane Stabilization in Myocardial Reperfusion Injury. Houang EM1, Bartos J2, Hackel BJ3, Lodge TP3,4, Yannopoulos D2, Bates FS3, Metzger JM1. 1Department of Integrative Biology and Physiology, University of Minnesota Medical School, Minneapolis, Minnesota. 2Department of Medicine-Cardiovascular Division, University of Minnesota Medical School, Minneapolis, Minnesota. 3Department of Chemical Engineering and Materials Science, University of Minnesota, Minneapolis, Minnesota. 4Department of Chemistry, University of Minnesota, Minneapolis, Minnesota. Keywords: copolymer; heart; ischemia; reperfusion PMID: 31061929 PMCID: PMC6488758 DOI: 10.1016/j.jacbts.2019.01.009
22. Pharmacol Res. 2019 May 3:104260. doi: 10.1016/j.phrs.2019.104260. [Epub ahead of print] Proof-of-concept validation of mechanism of action of Src tyrosine kinase inhibitors in dystrophic mdx mouse muscle: in vivo and in vitro studies. Sanarica F1, Mantuano P1, Conte E1, Cozzoli A1, Capogrosso RF2, Giustino A3, Cutrignelli A1, Cappellari O4, Rolland JF5, De Bellis M1, Denora N1, Camerino GM1, De Luca A6. 1Department of Pharmacy & Drug Sciences, University of Bari "Aldo Moro", 70121 Bari, Italy. 2Department of Pharmacy & Drug Sciences, University of Bari "Aldo Moro", 70121 Bari, Italy; Department of Chemical, Toxicological and Pharmacological Drug Studies, Catholic University "Our Lady of Good Counsel", Tirana, Albania. 3Department of Biomedical Sciences and Human Oncology, School of Medicine, University of Bari "Aldo Moro", 70121, Bari, Italy. 4Division of Cell Matrix Biology and Regenerative Medicine, University of Manchester, Manchester Academic Health Science Centre, UK. 5AXXAM S.p.A., Openzone, 20091, Bresso, Milan, Italy. 6Department of Pharmacy & Drug Sciences, University of Bari "Aldo Moro", 70121 Bari, Italy. Electronic address: [email protected]. Keywords: Duchenne muscular dystrophy; Src tyrosine kinase inhibitors; mdx mouse model; oxidative stress; preclinical study PMID: 31059789 DOI: 10.1016/j.phrs.2019.104260
23. Best Pract Res Clin Endocrinol Metab. 2019 Apr 19. pii: S1521-690X(19)30018-1. [Epub ahead of print] Pubertal abnormalities in adolescents with chronic disease. Kao KT1, Denker M2, Zacharin M3, Wong SC4. 1Department of Endocrinology, Royal Children's Hospital, Melbourne, Australia; Developmental Endocrinology Research Group, Royal Hospital for Children, Glasgow, United Kingdom. 2Developmental Endocrinology Research Group, Royal Hospital for Children, Glasgow, United Kingdom. 3Department of Endocrinology, Royal Children's Hospital, Melbourne, Australia. 4Developmental Endocrinology Research Group, Royal Hospital for Children, Glasgow, United Kingdom. Electronic address: [email protected]. Keywords: Duchenne muscular dystrophy; cerebral palsy; chronic disease; inflammatory bowel disease; osteoporosis; puberty PMID: 31047817 DOI: 10.1016/j.beem.2019.04.009
24. Health Qual Life Outcomes. 2019 May 2;17(1):76. doi: 10.1186/s12955-019-1140-y. Reliability and validity of the Thai version of the Pediatric Quality of Life inventory™ 3.0 Duchenne Muscular Dystrophy module in Thai children with Duchenne Muscular Dystrophy. Thongsing A1, Likasitwattanakul S1, Sanmaneechai O2. 1Division of Neurology, Department of Pediatrics, Faculty of Medicine Siriraj Hospital, Mahidol University, 2 Wanglang Road, Bangkoknoi, Bangkok, 10700, Thailand. 2Division of Neurology, Department of Pediatrics, Faculty of Medicine Siriraj Hospital, Mahidol University, 2 Wanglang Road, Bangkoknoi, Bangkok, 10700, Thailand. [email protected]. Keywords: DMD; Duchenne muscular dystrophy; Health-related quality of life (HRQOL); PedsQL; Psychometric properties; Thai PMID: 31046775 PMCID: PMC6498587 DOI: 10.1186/s12955-019-1140-y
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25. BMC Neurol. 2019 May 2;19(1):84. doi: 10.1186/s12883-019-1304-8. Variability and trends in corticosteroid use by male United States participants with Duchenne muscular dystrophy in the Duchenne Registry. Cowen L1, Mancini M1, Martin A2, Lucas A2,3, Donovan JM4. 1Catabasis Pharmaceuticals, One Kendall Square, Cambridge, MA, 02139, USA. 2Parent Project Muscular Dystrophy, Hackensack, NJ, USA. 3Present address: Sanofi Genzyme, Cambridge, MA, USA. 4Catabasis Pharmaceuticals, One Kendall Square, Cambridge, MA, 02139, USA. [email protected]. Keywords: Corticosteroids; Duchenne muscular dystrophy; DuchenneConnect; Rare disease registries; The Duchenne Registry PMID: 31046703 PMCID: PMC6498563 DOI: 10.1186/s12883-019-1304-8
26. J Drug Target. 2019 May 3:1-27. doi: 10.1080/1061186X.2019.1613408. [Epub ahead of print] Effects of chronic treatment with gold nanoparticles on inflammatory responses and oxidative stress in Mdx mice. Haupenthal DPDS1, Possato JC1, Zaccaron RP1, Mendes C1, Rodrigues MS1, Nesi RT2, Pinho RA2, Feuser PE1, Machado- de-Ávila RA1, Comim CM3, Silveira PCL1. 1a Laboratory of Experimental Phisiopatology , Program of post graduate in Science of Health, Universidade do Extremo Sul Catarinense , 88806-000 Criciúma , Santa Catarina state , Brazil. 2c Laboratory of Exercise Biochemistry in Health , Graduate Program in Health Sciences, School of Medicine, Pontifícia Universidade Católica do Paraná , Curitiba , Paraná , Brazil. 3b Research Group of Experimental Neuropathology, Laboratory of Experimental Neuroscience, Postgraduate Program in Health Sciences, University of South Santa Catarina , Palhoça , SC , Brazil. Keywords: Duchenne muscular dystrophy; Mdx; gold nanoparticles; inflammation; oxidative stress PMID: 31046473 DOI: 10.1080/1061186X.2019.1613408
27. PLoS One. 2019 May 1;14(5):e0213649. doi: 10.1371/journal.pone.0213649. eCollection 2019. Gene therapy as a potential therapeutic option for Duchenne muscular dystrophy: A qualitative preference study of patients and parents. Landrum Peay H1, Fischer R2, Tzeng JP1, Hesterlee SE3, Morris C4, Strong Martin A5, Rensch C2, Smith E6, Ricotti V4, Beaverson K7, Wand H8, Mansfield C9. 1Center for Newborn Screening, Ethics, and Disability Studies, RTI International, Research Triangle Park, North Caroilina, United States of America. 2Parent Project Muscular Dystrophy, Hackensack, New Jersey, United States of America. 3Lion Therapeutics, Asklepios BioPharmaceutical, Inc., Research Triangle Park, North Carolina, United States of America. 4Solid Biosciences, Cambridge, Massachusetts, United States of America. 5Center for Duchenne Muscular Dystrophy at UCLA, University of California Los Angeles, Los Angeles, California, United States of America. 6Duke University School of Medicine, Durham, North Carolina, United States of America. 7Rare Disease Research Unit, Pfizer, Inc, Cambridge, Massachusetts, United States of America. 8Stanford Healthcare and ClinGen, Sanford, California, United States of America. 9RTI Health Solutions, RTI International, Research Triangle Park, North Carolina, United States of America. PMID: 31042754 DOI: 10.1371/journal.pone.0213649
28. JCI Insight. 2019 Apr 30;5. pii: 123855. doi: 10.1172/jci.insight.123855. Stabilization of the cardiac sarcolemma by sarcospan rescues DMD-associated cardiomyopathy. Parvatiyar MS, Brownstein AJ, Kanashiro-Takeuchi RM, Collado JR, Dieseldorff Jones KM, Gopal J, Hammond KG, Marshall JL, Ferrel A, Beedle AM, Chamberlain JS, Pinto JR, Crosbie RH. Keywords: Cardiology; Fibrosis; Gene therapy; Muscle Biology; Skeletal muscle PMID: 31039133 DOI: 10.1172/jci.insight.123855
29. Fundam Clin Pharmacol. 2019 Apr 30. doi: 10.1111/fcp.12477. [Epub ahead of print] A Successful Antibiotic Treatment by a New Administration Route: a case report of a Subcutaneous Administration of Ceftazidime and Tobramycin. Duron D1, Chanoine S1,2,3, Peron M1, Lepelley M4, Allenet B1,2,5, Epaulard O2,6, Camara B7, Bedouch P1,2,5. 1Pôle Pharmacie, Centre Hospitalier Universitaire Grenoble Alpes, Grenoble, France. 2Université Grenoble Alpes, Grenoble, France.
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3Institute for Advanced Biosciences, CR UGA / Inserm 1209 / CNRS UMR, 5309, Grenoble, France. 4Centre Régional de Pharmacovigilance, Grenoble, France. 5TIMC-IMAG, UMR 5525 / ThEMAS, CNRS, Grenoble, France. 6Clinique Universitaire des Maladies infectieuses et tropicales, Centre Hospitalier Universitaire Grenoble Alpes, Grenoble, France. 7Service Hospitalier Universitaire de Pneumologie-Physiologie, Pôle Thorax et Vaisseaux, Centre Hospitalier Universitaire Grenoble Alpes, Grenoble, France. Keywords: Ceftazidime; Tobramycin; subcutaneous administration PMID: 31038766 DOI: 10.1111/fcp.12477
30. Iran J Child Neurol. 2019 Spring;13(2):125-134. Protein Interaction Mapping related to Becker Muscular Dystrophy. Peyvandi AA1, Okhovatian F2, Rezaei Tavirani M3, Zamanian Azodi M4, Rezaei Tavirani M4. 1Hearing Disorders Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran. 2Physiotherapy Research Centre, School of Rehabilitation, Shahid Beheshti University of Medical Sciences, Tehran, Iran. 3Faculty of Medicine, Iran University of Medical Sciences, Tehran, Iran. 4Proteomics Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran. Keywords: Becker muscular dystrophy (BMD); Gene ontology; Hub proteins; Map analysis; Protein-protein interaction PMID: 31037085 PMCID: PMC6451862 [Available on 2019-06-01]
31. Sports (Basel). 2019 Apr 26;7(5). pii: E96. doi: 10.3390/sports7050096. The Effect of Vitamin D Supplementation on Skeletal Muscle in the mdx Mouse Model of Duchenne Muscular Dystrophy. Debruin DA1,2, Andreacchio N3, Hanson ED4,5, Timpani CA6,7, Rybalka E8,9, Hayes A10,11,12. 1Institute of Sport and Health, Victoria University, Melbourne 3011, Australia. [email protected]. 2Australian Institute for Musculoskeletal Sciences (AIMSS), Melbourne 3021, Australia. [email protected]. 3Institute of Sport and Health, Victoria University, Melbourne 3011, Australia. [email protected]. 4Institute of Sport and Health, Victoria University, Melbourne 3011, Australia. [email protected]. 5Department of Exercise and Sport Science, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA. [email protected]. 6Institute of Sport and Health, Victoria University, Melbourne 3011, Australia. [email protected]. 7Australian Institute for Musculoskeletal Sciences (AIMSS), Melbourne 3021, Australia. [email protected]. 8Institute of Sport and Health, Victoria University, Melbourne 3011, Australia. [email protected]. 9Australian Institute for Musculoskeletal Sciences (AIMSS), Melbourne 3021, Australia. [email protected]. 10Institute of Sport and Health, Victoria University, Melbourne 3011, Australia. [email protected]. 11Australian Institute for Musculoskeletal Sciences (AIMSS), Melbourne 3021, Australia. [email protected]. 12Melbourne Medical School, The University of Melbourne, Melbourne 3010, Australia. [email protected]. Keywords: 1,25(OH)2D: 1,25-dihydroxyvitamin D; 25(OH)D: 25-hydroxyvitamin D3; DMD: Duchenne Muscular Dystrophy; Skeletal muscle; mdx: Duchenne Muscular Dystrophy Mouse Model PMID: 31035483 DOI: 10.3390/sports7050096
Dystrophies musculaires des ceintures – Limb-girdle muscular dystrophies 32. Eur J Med Genet. 2019 May 6. pii: S1769-7212(18)30488-9. [Epub ahead of print] A novel pathogenic variant in TNPO3 in a Hungarian family with limb-girdle muscular dystrophy 1F. Pál E1, Zima J2, Hadzsiev K2, Ito YA3, Hartley T3; Care4Rare Canada Consortium3, Boycott KM3, Melegh B2. 1Department of Neurology, University of Pécs, Medical School, Pécs, Hungary; Neuropathology Unit, Department of Pathology, University of Pécs, Medical School, Pécs, Hungary. Electronic address: [email protected]. 2Department of Medical Genetics, University of Pécs, Medical School, Pécs, Hungary; Szentágothai Research Centre, University of Pécs, Pécs, Hungary. 3Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Canada. Keywords: Exome sequencing; Limb-girdle muscular dystrophy (LGMD); Transportin 3 (TNPO3) PMID: 31071488 DOI: 10.1016/j.ejmg.2019.05.001
33. Ann Hum Genet. 2019 May 7. doi: 10.1111/ahg.12319. [Epub ahead of print] Impact of next-generation sequencing panels in the evaluation of limb-girdle muscular dystrophies. Özyilmaz B1,2, Kirbiyik Ö1, Özdemir TR1, Kaya Özer Ö1, Kutbay YB1, Erdogan KM1, Güvenç MS1, Kale MY2, Gazeteci H3, Kiliç B4, Sertpoyraz F2, Diniz G5, Baydan F2, Gençpinar P6, Dündar NO6, Yiş U7. 1Genetic Diagnosis Center, Tepecik Training and Research Hospital, University of Health Sciences, Izmir, Turkey. 2Neuromuscular Disorders Unit, Tepecik Training and Research Hospital, University of Health Sciences, Izmir, Turkey.
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3Pediatric Neurology, Cigli District Training Hospital, Izmir, Turkey. 4Pediatric Neurology, Derince Education Research Hospital, Kocaeli, Turkey. 5Department of Pathology, Izmir Democracy University, Izmir, Turkey. 6Pediatric Neurology, Faculty of Medicine, Izmir Katip Celebi University, Izmir, Turkey. 7Pediatric Neurology, School of Medicine, Dokuz Eylül University, Izmir, Turkey. Keywords: LGMD; NGS; WES; sarcolglycanopathies; variant PMID: 31066050 DOI: 10.1111/ahg.12319
34. Sci Rep. 2019 May 6;9(1):6915. doi: 10.1038/s41598-019-43399-w. Identification of thiostrepton as a pharmacological approach to rescue misfolded alpha-sarcoglycan mutant proteins from degradation. Hoch L1,2,3, Henriques SF4, Bruge C1,2,3, Marsolier J4, Benabides M1,2,3, Bourg N4, Tournois J1,2,3, Mahé G1,2,3, Morizur L1,2,3, Jarrige M1,2,3, Bigot A5, Richard I6, Nissan X7,8,9. 1CECS, I-Stem, 91100, Corbeil-Essonnes, France. 2INSERM U861, I-Stem, 91100, Corbeil-Essonnes, France. 3UEVE U861, I-Stem, 91100, Corbeil-Essonnes, France. 4INTEGRARE, Genethon, Inserm, Univ Evry, Université Paris-Saclay, Evry, France. 5Institut de Myologie, INSERM U974, Sorbonne Université, Paris, France. 6INTEGRARE, Genethon, Inserm, Univ Evry, Université Paris-Saclay, Evry, France. [email protected]. 7CECS, I-Stem, 91100, Corbeil-Essonnes, France. [email protected]. 8INSERM U861, I-Stem, 91100, Corbeil-Essonnes, France. [email protected]. 9UEVE U861, I-Stem, 91100, Corbeil-Essonnes, France. [email protected]. PMID: 31061434 DOI: 10.1038/s41598-019-43399-w
35. Case Rep Neurol. 2019 Jan 24;11(1):10-16. doi: 10.1159/000495746. eCollection 2019 Jan-Apr. Effects of Prednisone on a Patient with Dysferlinopathy Assessed by Maximal Voluntary Isometric Contraction: Alternate-Day Low-Dose Administration for a 17-Year Period. Takahashi K1. 1Department of Neurology, Takahashi Clinic for Neurological Disorders, Sanda, Japan. Keywords: Alternate-day low-dose administration; Dysferlinopathy; Isometric muscle strength; Limb-girdle muscular dystrophy type 2B; Prednisone PMID: 31043956 PMCID: PMC6477497 DOI: 10.1159/000495746
Dystrophie musculaire facioscapulohumérale – Facioscapulohumeral muscular dystrophy (FSHD) 36. Neurol Sci. 2019 May 10. doi: 10.1007/s10072-019-03904-5. [Epub ahead of print] Correction to: Effect of taping on scapular kinematics of patients with facioscapulohumeral muscular dystrophy. Savcun Demirci C1, Onursal Kılınç Ö2, Yıldız Tİ2, Ayvat E2, Ayvat F2, Turgut E2, Düzgün İ2, Aksu Yıldırım S2, Kılınç M2. 1Faculty of Health Sciences, Department of Physiotherapy and Rehabilitation, Kırıkkale University, Kırıkkale, Turkey. [email protected]. 2Faculty of Physical Therapy and Rehabilitation, Hacettepe University, Ankara, Turkey. Erratum for Effect of taping on scapular kinematics of patients with facioscapulohumeral muscular dystrophy. [Neurol Sci. 2019] PMID: 31073658 DOI: 10.1007/s10072-019-03904-5
37. Hum Mol Genet. 2019 Mar 13. pii: ddz043. doi: 10.1093/hmg/ddz043. [Epub ahead of print] PAX7 target gene repression is a superior FSHD biomarker than DUX4 target gene activation, associating with pathological severity and identifying FSHD at the single-cell level. Banerji CRS1,2, Zammit PS1. 1King's College London, Randall Centre for Cell and Molecular Biophysics, New Hunt's House, Guy's Campus, London, UK. 2Faculty of Medicine, Imperial College London, Level, Faculty Building, South Kensington Campus, London, UK. PMID: 31067297 DOI: 10.1093/hmg/ddz043
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38. J Cutan Aesthet Surg. 2019 Jan-Mar;12(1):52-55. doi: 10.4103/JCAS.JCAS_128_18. A Case Report on Use of Cog Threads and Dermal Fillers for Facial-Lifting in Facioscapulohumeral Muscular Dystrophy. Dua A1, Bhardwaj B1. 1Consultant Dermatologist, AK Clinics, Ludhiana (Punjab), India. Keywords: Cog threads; The application of subcutaneous suspension with a reabsorbable thread in conjunction with dermal fillers constitutes an effective and safe procedure for face-lifting and rejuvenation in case of a long-standing facial paralysis.; facial lifting; facial remodeling; facioscapulohumeral muscular dystrophy; lesser downtime; neocollagenesis PMID: 31057270 PMCID: PMC6484573 DOI: 10.4103/JCAS.JCAS_128_18
Dystrophie musculaire oculopharyngée (DMOP) – Oculopharyngeal muscular dystrophy (OPMD) 39. J Cachexia Sarcopenia Muscle. 2019 May 7. doi: 10.1002/jcsm.12438. [Epub ahead of print] Inhibition of myostatin improves muscle atrophy in oculopharyngeal muscular dystrophy (OPMD). Harish P1, Malerba A1, Lu-Nguyen N1, Forrest L1, Cappellari O2, Roth F3, Trollet C3, Popplewell L1, Dickson G1. 1Centres of Gene and Cell Therapy and Biomedical Sciences, School of Biological Sciences, Royal Holloway-University of London, Surrey, UK. 2Comparative Biomedical Sciences, Royal Veterinary College, London, UK. 3Association Institut de Myologie, Centre de Recherche en Myologie UMRS974, Sorbonne Université, INSERM, Paris, France. Keywords: Anti-myostatin antibody; Muscle atrophy; OPMD; RK35 PMID: 31066242 DOI: 10.1002/jcsm.12438
Dystrophies myotoniques – Myotonic dystrophies 40. PLoS One. 2019 May 2;14(5):e0216407. doi: 10.1371/journal.pone.0216407. eCollection 2019. Analysis of mutational dynamics at the DMPK (CTG)n locus identifies saliva as a suitable DNA sample source for genetic analysis in myotonic dystrophy type 1. Corrales E1, Vásquez M1,2, Zhang B3, Santamaría-Ulloa C1, Cuenca P1, Krahe R3, Monckton DG4, Morales F1. 1Instituto de Investigaciones en Salud (INISA), Universidad de Costa Rica, San José, Costa Rica. 2Centro de Investigación en Neurociencias, Universidad de Costa Rica, San José, Costa Rica. 3Department of Genetics, University of Texas MD Anderson Cancer Center, Houston, Texas, United States of America. 4Institute of Molecular, Cell and Systems Biology, College of Medical, Veterinary and Life Sciences, University of Glasgow, Glasgow, United Kingdom. PMID: 31048891 DOI: 10.1371/journal.pone.0216407
41. Obes Surg. 2019 May 3. doi: 10.1007/s11695-019-03913-5. [Epub ahead of print] A Case Report of Myotonic Disease and Gastric Bypass and a Literature Review. Gohier H1, Cintas P2, Montastier E1, Bertrand M1, Tuyeras G3, Chalret du Rieu M3, Estrade A1, Ritz P4,5. 1Nutrition Department, CIO and CHU, Toulouse, France. 2Neurology Department, CHU, Toulouse, France. 3Surgery Department, CIO and CHU, Toulouse, France. 4Nutrition Department, CIO and CHU, Toulouse, France. [email protected]. 5Inserm U1027, University Paul Sabatier, Toulouse, France. [email protected]. Keywords: Gastric bypass; Myotonic disease PMID: 31054108 DOI: 10.1007/s11695-019-03913-5
42. Muscle Nerve. 2019 May 10. doi: 10.1002/mus.26509. [Epub ahead of print] Body Composition in Patients with Congenital Myotonic Dystrophy. Ceballos-Sáenz D1, Zapata-Aldana E2, Singeris S1, Hicks R1, Johnson N3, Campbell C1,4. 1Paediatric Neurology Department, Children's Hospital, London Health Science Centre, London, Ontario, Canada. 2Department of Pediatrics and Child Health, Max Rady College of Medicine, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, Manitoba. 3Department of Neurology, Virginia Commonwealth University, Richmond, Virginia. 4Department of Paediatrics, Clinical Neurological Sciences and Epidemiology, Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada. PMID: 31074869 DOI: 10.1002/mus.26509
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43. J Neurol Sci. 2019 Apr 17;401:125-126. doi: 10.1016/j.jns.2019.04.020. [Epub ahead of print] Myotonic Dystrophy type 1, individualised respiratory care rather than standart prognostication. Yetimakman AF1, Bayrakçı B2, Esquinas AM3. 1Hacettepe University, Department of Pediatric Intensive Care Medicine, Ankara, Turkey. Electronic address: [email protected]. 2Hacettepe University, Department of Pediatric Intensive Care Medicine, Ankara, Turkey. 3Intensive Care Unit, Hospital Morales Meseguer, Murcia, Spain. Keywords: Hypercapnic ventilator response; Myotonic Dystrophy type 1; Noninvasive ventilation; Pulmonary function PMID: 31077949 DOI: 10.1016/j.jns.2019.04.020
44. Medicine (Baltimore). 2019 May;98(18):e15321. doi: 10.1097/MD.0000000000015321. Clinical implication of maximal voluntary ventilation in myotonic muscular dystrophy. Suh MR1,2,3,4, Kim DH5, Jung J6, Kim B6,7, Lee JW3,8, Choi WA3,6, Kang SW3,6. 1Department of Rehabilitation Medicine, CHA Bundang Medical Center, CHA University School of Medicine, GyeongGi-do. 2Rehabilitation and Regeneration Research Center, CHA University School of Medicine, GyeongGi-do. 3Rehabilitation Institute of Neuromuscular Disease, Yonsei University College of Medicine, Seoul. 4The Graduate School, Yonsei University College of Medicine, Seoul. 5Department of Physical Medicine and Rehabilitation, Kangdong Sacred Heart Hospital, Hallym University College of Medicine, Seoul. 6Department of Rehabilitation Medicine and Pulmonary Rehabilitation Center, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul. 7Department of Physical Therapy, Graduate School of Yonsei University, Gangwon-do. 8Department of Physical Medicine and Rehabilitation, National Health Insurance Service Ilsan Hospital, Goyang, Korea. PMID: 31045770 DOI: 10.1097/MD.0000000000015321 [Indexed for MEDLINE]
Fibrodysplasie ossifiante progressive (FOP) – Fibrodysplasia ossificans progressiva 45. Front Pharmacol. 2019 Apr 24;10:234. doi: 10.3389/fphar.2019.00234. eCollection 2019. Application of in vitro Drug Metabolism Studies in Chemical Structure Optimization for the Treatment of Fibrodysplasia Ossificans Progressiva (FOP). Padilha EC1,2, Wang J3,4, Kerns E1, Lee A1, Huang W1, Jiang JK1, McKew J1, Mutlib A4, Peccinini RG2, Yu PB5, Sanderson P1, Xu X1. 1Division of Preclinical Innovation, National Center for Advancing Translational Sciences, National Institutes of Health, Rockville, MD, United States. 2Department of Natural Active Principles and Toxicology, School of Pharmaceutical Sciences, Universidade Estadual Paulista (UNESP), Araraquara, Brazil. 3Department of Pharmacokinetics, Dynamics and Metabolism, Discovery Sciences, Janssen Research and Development, Spring House, PA, United States. 4Frontage Laboratories, Inc., Department of Drug Metabolism, Exton, PA, United States. 5Division of Cardiovascular Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, United States. Keywords: aldehyde oxidase; fibrodysplasia ossificans progressiva; metabolite identification; reactive metabolite; structure optimization PMID: 31068801 PMCID: PMC6491728 DOI: 10.3389/fphar.2019.00234
46. Orphanet J Rare Dis. 2019 May 3;14(1):98. doi: 10.1186/s13023-019-1068-7. Natural history of fibrodysplasia ossificans progressiva: cross-sectional analysis of annotated baseline phenotypes. Pignolo RJ1, Baujat G2, Brown MA3, De Cunto C4, DiRocco M5, Hsiao EC6, Keen R7, Al Mukaddam M8, Sang KLQ2, Wilson A9, White B9, Grogan DR9, Kaplan FS10. 1Department of Medicine, Mayo Clinic, Rochester, MN, USA. [email protected]. 2Departement de Genetique, Institut IMAGINE and Hôpital Necker-Enfants Malades, Paris, France. 3Institute of Health and Biomedical Innovation (IHBI), Translational Research Institute, Princess Alexandra Hospital, Queensland University of Technology (QUT), Queensland, Australia. 4Pediatric Rheumatology Section, Department of Pediatrics, Hospital Italiano de Buenos Aires, Buenos Aires, Argentina. 5Unit of Rare Diseases, Department of Pediatrics, Giannina Gaslini Institute, Genoa, Italy.
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6Division of Endocrinology and Metabolism, the UCSF Metabolic Bone Clinic, the Institute of Human Genetics, and the UCSF Program in Craniofacial Biology, Department of Medicine, University of California-San Francisco, San Francisco, California, USA. 7Centre for Metabolic Bone Disease, Royal National Orthopaedic Hospital, Stanmore, UK. 8Departments of Medicine and Orthopaedic Surgery, The Center for Research in FOP and Related Disorders, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA. 9Clementia Pharmaceuticals Inc, Newton, MA, USA. 10Departments of Orthopaedic Surgery & Medicine, The Center for Research in FOP and Related Disorders, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA. [email protected]. Keywords: Clinical trial endpoints; Cross-sectional analysis; Disease progression; Fibrodysplasia Ossificans Progressiva; Heterotopic ossification; Natural history PMID: 31053156 PMCID: PMC6499994 DOI: 10.1186/s13023-019-1068-7
47. JBMR Plus. 2019 Feb 27;3(4):e10172. doi: 10.1002/jbm4.10172. eCollection 2019 Apr. Heterotopic Ossification: A Comprehensive Review. Meyers C1, Lisiecki J2, Miller S1, Levin A3, Fayad L4, Ding C5, Sono T1, McCarthy E1, Levi B2, James AW1,5. 1Department of Pathology Johns Hopkins University Baltimore MD USA. 2Department of Surgery University of Michigan Ann Arbor MI USA. 3Department of Orthopaedic Surgery Johns Hopkins University Baltimore MD USA. 4Department of Radiology Johns Hopkins University Baltimore MD USA. 5UCLA and Orthopaedic Hospital Department of Orthopaedic Surgery and the Orthopaedic Hospital Research Center Los Angeles CA USA. Keywords: ECTOPIC BONE; FIBRODYSPLASIA OSSIFICANS PROGRESSIVA; HETEROTOPIC BONE; MYOSITIS OSSIFICANS PMID: 31044187 PMCID: PMC6478587 DOI: 10.1002/jbm4.10172
48. Int J Appl Basic Med Res. 2019 Apr-Jun;9(2):118-120. doi: 10.4103/ijabmr.IJABMR_52_18. Feasibility of bisphosphonate therapy in an Indian pediatric patient of fibrodysplasia ossificans progressiva. Kochar IS1, Sethi A1, Ramachandran S1. 1Department of Pediatric Endocrinology, Indraprastha Apollo Hospital, New Delhi, India. Keywords: Bisphosphonates; fibrodysplasia ossificans progressiva; myositis ossificans progressiva; stone man disease PMID: 31041177 PMCID: PMC6477960 DOI: 10.4103/ijabmr.IJABMR_52_18
Laminopathies – Laminopathies 49. J Cardiol. 2019 May 3. pii: S0914-5087(19)30101-7. doi: 10.1016/j.jjcc.2019.03.019. [Epub ahead of print] Characteristics of ventricular tachycardia and long-term treatment outcome in patients with dilated cardiomyopathy complicated by lamin A/C gene mutations. Hasebe Y1, Fukuda K1, Nakano M2, Kumagai K3, Karibe A4, Fujishima F5, Satake H1, Kondo M1, Wakayama Y1, Shimokawa H1. 1Department of Cardiovascular Medicine, Tohoku University Graduate School of Medicine, Sendai, Japan. 2Department of Cardiovascular Medicine, Tohoku University Graduate School of Medicine, Sendai, Japan. Electronic address: [email protected]. 3Division of Cardiology, Gunma Prefectural Cardiovascular Center, Maebashi, Japan. 4Office for Clinical Research, National Hospital Organization Sendai Nishitaga National Hospital, Sendai, Japan. 5Department of Pathology, Tohoku University Graduate School of Medicine, Sendai, Japan. Keywords: Catheter ablation; Dilated cardiomyopathy; Lamin A/C; Ventricular tachycardia PMID: 31060954 DOI: 10.1016/j.jjcc.2019.03.019
Maladie de Charcot-Marie-Tooth – Charcot-Marie-Tooth disease 50. Ann Neurol. 2019 May 9. doi: 10.1002/ana.25500. [Epub ahead of print] A multicentre retrospective study of Charcot-Marie-Tooth disease type 4B (CMT4B) due to mutations in Myotubularin-related proteins (MTMRs). Pareyson D1, Stojkovic T2, Reilly MM3, Leonard-Louis S2, Laurà M3, Blake J3,4, Parman Y5, Battaloglu E6, Tazir M7, Bellatache M7, Bonello-Palot N8, Lévy N8, Sacconi S9, Guimarães-Costa R2, Attarian S10, Latour P11, Solé G12, Megarbane A13,14, Horvath R15,16, Ricci G15,17, Choi BO18, Schenone A19, Gemelli C19, Geroldi A19, Sabatelli M20,21, Luigetti M21,22, Santoro L23, Manganelli F23, Quattrone A24, Valentino P24, Murakami T25, Scherer SS26, Dankwa L26, Shy ME27, Bacon CJ27, Herrmann DN28, Zambon A29, Tramacere I30, Pisciotta C1, Magri S31, Previtali SC29, Bolino A29.
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1Unit of Rare Neurodegenerative and Neurometabolic Diseases, Department of Clinical Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy. 2Hôpital Pitié-Salpêtrière, AP-HP, Centre de référence des maladies neuromusculaires Nord/Est/Ile de France, Paris, France. 3MRC Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK. 4Department of Clinical Neurophysiology, Norfolk and Norwich University Hospital, Norfolk, UK. 5Istanbul Faculty of Medicine, Neurology Dep., Istanbul University, Istanbul-Turkey. 6Department of Molecular Biology and Genetics, Bogazici University, Istanbul, Turkey. 7Laboratoire de Recherche en Neurosciences Service de Neurologie, CHU, Alger, Algeria. 8Department of Medical Genetics, Timone Hospital, Marseille, France.2, Aix Marseille Univ, INSERM, MMG, U1251, Marseille, France. 9Service Système Nerveux Périphérique, Muscle et SLA, Centre Hospitalier Universitaire de Nice, Université Côte d'Azur, Nice, France. 10Reference center for neuromuscular disorders and ALS, CHU La Timone, Aix- Marseille University. 11Center of Biology and Pathology ; Laboratory of Molecular Neurogenetics; Hospices Civils, Lyon, France. 12Reference center for neuromuscular disorders AOC (Atlantique Occitanie Caraibes), CHU de Bordeaux, Bordeaux, France. 13Institut Jérôme Lejeune, Paris, France. 14INOVIE, Beirut, Lebanon. 15Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK. 16Institute of Genetic Medicine, Newcastle University, Newcastle, UK. 17Department of Clinical and Experimental Medicine, University of Pisa, Italy. 18Department of Neurology, Samsung Medical Center, Sungkyunkwan University School of Medicine, 81 Irwon-ro, Gangnam-gu, Seoul 06351, South Korea. 19Department of Neurosciences, Rehabilitation, Ophthalmology, Genetic and MATERNAL Infantile Sciences, University of Genoa, and IRCCS Policlinico San Martino, Genoa, Italy. 20Fondazione Policlinico Universitario Agostino Gemelli IRCCS. Centro Clinico Nemo Adulti Rome, Italy. 21Università Cattolica del Sacro Cuore. Sede di Roma, Italy. 22UOC Neurologia, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy. 23Department of Neurosciences, Reproductive Sciences and Odontostomatology, University Federico II of Naples, Naples, Italy. 24Department of Neurology, Università Magna Graecia di Catanzaro, Catanzaro, Italy. 25Department of Neurology, Kawasaki Medical School, Kurashiki, Japan. 26Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA. 27Department of Neurology, University of Iowa Hospitals and Clinics, Iowa, IA, USA. 28Department of Neurology, University of Rochester, Rochester, NY, USA. 29Division of Neuroscience, IRCCS Ospedale San Raffaele, Institute of Experimental Neurology (InSpe), Milan, Italy. 30Department of Research and Clinical Development, Scientific Directorate, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy. 31Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy. PMID: 31070812 DOI: 10.1002/ana.25500
51. Front Neurol. 2019 Apr 24;10:413. doi: 10.3389/fneur.2019.00413. eCollection 2019. A Novel Variant in Non-coding Region of GJB1 Is Associated With X-Linked Charcot-Marie-Tooth Disease Type 1 and Transient CNS Symptoms. Luo S1, Jin H1, Chen J1, Zhang L1. 1Department of Neurology, China-Japan Union Hospital of Jilin University, Changchun, China. Keywords: Charcot-Marie-Tooth disease; GJB1; central nervous system manifestations; pedigree; variant PMID: 31068899 PMCID: PMC6491636 DOI: 10.3389/fneur.2019.00413
52. Physiother Theory Pract. 2019 May 3:1-8. doi: 10.1080/09593985.2019.1603257. [Epub ahead of print] Physical function and performance measures of children and adolescents with Charcot-Marie-Tooth disease. Baptista CR1, Nascimento-Elias AH1, Garcia B1, Testa A1, Domingues PC1, Martinez EZ2, Marques W Jr3, Mattiello-Sverzut AC1. 1a Department of Health Sciences , Ribeirão Preto Medical School - University of São Paulo , São Paulo , Ribeirão Preto , Brazil. 2b Department of Social Medicine , Ribeirão Preto Medical School, University of São Paulo (USP) , Brazil. 3c Department of Neurosciences and Neurobehavioral Sciences , Ribeirão Preto Medical School, University of São Paulo (USP) , Brazil.
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Keywords: Foot Posture Index; Neuropathy; adolescent; children; muscle strength; rehabilitation PMID: 31046526 DOI: 10.1080/09593985.2019.1603257
53. Curr Oncol. 2019 Apr;26(2):e266-e269. doi: 10.3747/co.26.4491. Epub 2019 Apr 1. Treatment-induced remission of medulloblastoma using a chemotherapeutic regimen devoid of vincristine in a child with Charcot-Marie-Tooth disease. Bernstock JD1, Cohen JL1, Singh S2, Schlappi CW3, Fiveash JB4, Johnston JM5, Fequiere P6, Orr BA7, Li R8, Friedman GK3. 1Medical Scientist Training Program, University of Alabama at Birmingham, Birmingham, AL, U.S.A. 2Department of Radiology, Children's of Alabama, University of Alabama at Birmingham, Birmingham, AL, U.S.A. 3Department of Pediatrics, Division of Pediatric Hematology and Oncology, University of Alabama at Birmingham, Birmingham, AL, U.S.A. 4Department of Radiation Oncology, University of Alabama at Birmingham, Birmingham, AL, U.S.A. 5Department of Neurosurgery, University of Alabama at Birmingham, Birmingham, AL, U.S.A. 6Department of Pediatrics, Division of Neurology, University of Alabama at Birmingham, Birmingham, AL, U.S.A. 7Pathology Department, St. Jude Children's Research Hospital, Memphis, TN, U.S.A. 8Department of Pathology, Children's of Alabama, Birmingham, AL, U.S.A. Keywords: Charcot–Marie–Tooth; chemotherapy; medulloblastoma; neurotoxicity; radiotherapy; vincristine PMID: 31043836 PMCID: PMC6476452 DOI: 10.3747/co.26.4491
54. Foot Ankle Clin. 2019 Jun;24(2):195-203. doi: 10.1016/j.fcl.2019.02.003. Epub 2019 Apr 3. Neurologic Disorders and Cavovarus Deformity. Neumann JA1, Nickisch F2. 1University of Utah Orthopaedic Department, University Orthopaedic Center, 590 Wakara Way, Salt Lake City, UT 84108, USA. Electronic address: [email protected]. 2University of Utah Orthopaedic Department, University Orthopaedic Center, 590 Wakara Way, Salt Lake City, UT 84108, USA. Keywords: Cavovarus; Charcot-Marie tooth disease; Foot; Neuropathy PMID: 31036264 DOI: 10.1016/j.fcl.2019.02.003
55. Clin Genet. 2019 May 9. doi: 10.1111/cge.13563. [Epub ahead of print] A novel WARS mutation (p.Asp314Gly) identified in a Chinese dHMN family. Wang B1, Li X1, Huang S1, Zhao H1, Liu J2, Hu Z3, Lin Z1, Liu L4, Xie Y1, Jin Q5, Zhao H6, Tang B7, Niu Q6, Zhang R1. 1Department of Neurology, The Third Xiangya Hospital, Central South University, Changsha, 410013, Hunan Province, China. 2Department of Radiology, The Third Xiangya Hospital, Central South University, Changsha, 410013, Hunan Province, China. 3Center for Medical Genetics & Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, 410078, Hunan Province, China. 4Health Management Center, The Third Xiangya Hospital, Central South University, Changsha, 410013, Hunan Province, China. 5Department of Neurology, The Affiliated Sir Run Run Hospital of Nanjing Medical University, Nanjing, 211166, Jiangsu Province, China. 6Department of Geriatric Neurology, The First Affiliated Hospital of Nanjing Medical University, Nanjing, 210029, Jiangsu Province, China. 7National Clinical Research Center for Geriatric Disorders, Central South University, Changsha, 410078, Hunan Province, China. Keywords: WARS; distal hereditary motor neuropathy; hTrpRS; novel mutation; phenotype PMID: 31069783 DOI: 10.1111/cge.13563
Myasthénie autoimmune – Myasthenia gravis 56. Am J Ophthalmol. 2019 May 8. pii: S0002-9394(19)30197-7. doi: 10.1016/j.ajo.2019.04.017. [Epub ahead of print] Incidence, Epidemiology, and Transformation of Ocular Myasthenia Gravis: A Population Based Study. Hendricks TM1, Bhatti MT2, Hodge DO3, Chen JJ4. 1Mayo Clinic Alix School of Medicine, Mayo Clinic, Rochester, MN. 2Department of Ophthalmology, Mayo Clinic, Rochester, MN; Department of Neurology, Mayo Clinic, Rochester, MN. 3Department of Health Sciences Research, Mayo Clinic, Jacksonville, FL.
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4Department of Ophthalmology, Mayo Clinic, Rochester, MN; Department of Neurology, Mayo Clinic, Rochester, MN. Electronic address: [email protected]. Keywords: REP; Rochester Epidemiology Project; epidemiology; incidence; myasthenia gravis; ocular; ocular myasthenia PMID: 31077669 DOI: 10.1016/j.ajo.2019.04.017 Similar articlesRemove from clipboard
57. Muscle Nerve. 2019 May 10. doi: 10.1002/mus.26512. [Epub ahead of print] Eculizumab: A complementary addition to existing long-term therapies for myasthenia gravis. Edmundson C1, Guidon AC2. 1Division of Neuromuscular Medicine, Department of Neurology, Hospital of the University of Pennsylvania. 2Division of Neuromuscular Medicine, Department of Neurology, Massachusetts General Hospital, Harvard Medical School. Keywords: complement inhibitors; eculizumab; myasthenia gravis; refractory myasthenia gravis; therapeutic development PMID: 31074870 DOI: 10.1002/mus.26512
58. Ir J Med Sci. 2019 May 9. doi: 10.1007/s11845-019-02029-0. [Epub ahead of print] Myasthenia gravis and pregnancy: retrospective evaluation of 27 pregnancies in a tertiary center and comparison with previous studies. Tanacan A1, Fadiloglu E2, Ozten G2, Gunes AC2, Orgul G2, Beksac MS2. 1Division of Perinatology, Department of Obstetrics and Gynecology, Hacettepe University Medical Faculty, Sıhhiye, Ankara, Turkey. [email protected]. 2Division of Perinatology, Department of Obstetrics and Gynecology, Hacettepe University Medical Faculty, Sıhhiye, Ankara, Turkey. Keywords: Acetylcholine receptors; Myasthenia gravis; Neuromuscular junction; Obstetric complications; Pregnancy PMID: 31073909 DOI: 10.1007/s11845-019-02029-0
59. Neuroepidemiology. 2019 May 8:1-7. doi: 10.1159/000500268. [Epub ahead of print] A Prospective Study of the Incidence of Myasthenia Gravis in the East Midlands of England. Maddison P1, Ambrose PA2, Sadalage G2, Vincent A3. 1Department of Clinical Neurology, University of Nottingham, Queen's Medical Centre, Nottingham, United Kingdom, [email protected]. 2Department of Clinical Neurology, University of Nottingham, Queen's Medical Centre, Nottingham, United Kingdom. 3Nuffield Department of Clinical Neurosciences, University of Oxford, West Wing, John Radcliffe Hospital, Oxford, United Kingdom. Keywords: Late-onset; Epidemiology; Incidence; Myasthenia gravis; Prospective PMID: 31067543 DOI: 10.1159/000500268
60. Neurosciences (Riyadh). 2019 Apr;24(2):95-100. doi: 10.17712/nsj.2019.2.20180024. Expiratory muscle strength as a predictor of functional exercise capacity in generalized myasthenia gravis. Calik-Kutukcu E1, Salci Y, Karanfil E, Fil-Balkan A, Bekircan-Kurt CE, Armutlu K. 1Department of Physiotherapy and Rehabilitation, Faculty of Health Sciences, Hacettepe University, Ankara, Turkey. E- mail: [email protected]. PMID: 31056540 DOI: 10.17712/nsj.2019.2.20180024
61. Clin Neurol Neurosurg. 2019 Apr 21;182:17-18. doi: 10.1016/j.clineuro.2019.04.011. [Epub ahead of print] Two sisters with anti-MuSK-positive myasthenia gravis. Kurt E1, Bekircan-Kurt CE2, Konuşkan B3, Erkent İ1, Tan E1, Anlar B3. Hacettepe University Faculty of Medicine, Department of Neurology, Ankara, Turkey. 2Hacettepe University Faculty of Medicine, Department of Neurology, Ankara, Turkey. Electronic address: [email protected]. 3Hacettepe University Faculty of Medicine, Department of Pediatric Neurology, Ankara, Turkey. Keywords: Human leukocyte antigen; Muscle-specific kinase antibody; Myasthenia gravis PMID: 31054424 DOI: 10.1016/j.clineuro.2019.04.011
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62. Eur J Neurol. 2019 May 2. doi: 10.1111/ene.13979. [Epub ahead of print] Clinical analysis of Chinese anti-LRP4 antibodies in patients with myasthenia gravis. Li M1, Han J2, Zhang Y2, Lv J2, Zhang J2, Zhao X2, Ren L1, Fang H2, Yang J3, Zhang Y3, Cui X4, Zhang Q4, Li Q5, Du Y5, Gao F2. 1Department of Neurology, The Second Affiliated Hospital of Zhengzhou University, Zhengzhou, 450014, China. 2Department of Neuroimmunology Research, Institute of Medical and Pharmaceutical Sciences, Zhengzhou University, Zhengzhou, 450052, China. 3Department of Encephalopathy, The First Affiliated Hospital of Henan University of TCM, Zhengzhou, 450008, China. 4Myasthenia gravis comprehensive diagnosis and treatment center, Henan Provincial People's Hospital, Zhengzhou, 450003, China. 5Department of Immunology and Microbiology, Basic Medical College, Zhengzhou University, Zhengzhou, 450001, China. Keywords: Autoantibody; Double seronegative (dSN); Low density lipoprotein receptor-associated protein 4 (LRP4); Myasthenia gravis (MG); Triple seronegative (TSN) PMID: 31050101 DOI: 10.1111/ene.13979
63. Muscle Nerve. 2019 May 2. doi: 10.1002/mus.26507. [Epub ahead of print] Refractory myasthenia gravis: Characteristics of a portuguese cohort. Santos E1,2, Bettencourt A2,3, Duarte S1, Gabriel D1, Oliveira V1, da Silva AM1,2, Costa PP2,3,4, Lopes C2, Gonçalves G2, da Silva BM3, Leite MI5. 1Neurology Department, Centro Hospitalar Universitário do Porto, Hospital de Santo António, Largo Prof Abel Salazar, 4099-001 Porto, Portugal. 2Unit for Multidisciplinary Research in Biomedicine, Instituto de Ciências Biomédicas Abel Salazar-Universidade do Porto, Porto, Portugal. 3Immunogenetics Laboratory, Instituto de Ciências Biomédicas Abel Salazar-Universidade do Porto, Porto, Portugal. 4Instituto Nacional de Saúde Dr. Ricardo Jorge, Porto, Portugal. 5Nuffield Department of Clinical Neurosciences, Oxford University Hospitals and University of Oxford, Oxford, UK. Keywords: human leukocyte antigens; myasthenia gravis; polyautoimmunity; refractory; thymoma MG PMID: 31050006 DOI: 10.1002/mus.26507
64. Nat Rev Dis Primers. 2019 May 2;5(1):30. doi: 10.1038/s41572-019-0079-y. Myasthenia gravis. Gilhus NE1,2, Tzartos S3, Evoli A4,5, Palace J6, Burns TM7, Verschuuren JJGM8. 1Department of Clinical Medicine, University of Bergen, Bergen, Norway. [email protected]. 2Department of Neurology, Haukeland University Hospital, Bergen, Norway. [email protected]. 3Department of Neurobiology, Hellenic Pasteur Institute and Tzartos NeuroDiagnostics, Athens, Greece. 4Istituto di Neurologia, Fondazione Policlinico A. Gemelli, IRCCS, Rome, Italy. 5Università Cattolica del Sacro Cuore, Rome, Italy. 6Nuffield Department of Clinical Neurosciences, University of Oxford, Hospitals Trust, Oxford, UK. 7Department of Neurology, University of Virginia, Charlottesville, VA, USA. 8Department of Neurology, Leiden University Medical Centre, Leiden, Netherlands. PMID: 31048702 DOI: 10.1038/s41572-019-0079-y
65. Nat Rev Dis Primers. 2019 May 2;5(1):31. doi: 10.1038/s41572-019-0085-0. Myasthenia gravis. [No authors listed] PMID: 31048687 DOI: 10.1038/s41572-019-0085-0
66. J Coll Physicians Surg Pak. 2019 May;29(5):474-475. doi: 10.29271/jcpsp.2019.05.474. Myasthenia Gravis as a Cause of Failed Extubation Diagnosed by Diaphragmatic Ultrasound. Ramakrishnan P1, Siddiqui S1. 1Department of Anaesthesia, Khoo Teck Puat Hospital, Singapore. PMID: 31036122 DOI: 10.29271/jcpsp.2019.05.474
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Myopathies congénitales – Congenital myopathies 67. Anaesth Intensive Care. 2019 May 9:310057X19835830. doi: 10.1177/0310057X19835830. [Epub ahead of print] Exertional rhabdomyolysis: Relevance of clinical and laboratory findings, and clues for investigation. Heytens K1, De Ridder W2, De Bleecker J3, Heytens L2,4, Baets J2,5. 1 Department of Intensive Care, Royal Adelaide Hospital, Adelaide, Australia. 2 Department of Neurology, University Hospital Antwerp, Belgium. 3 Department of Neurology, AZ Sint-Lucas, Belgium. 4 MH Research Unit, University of Antwerp, Belgium. 5 Laboratory of Neurogenetics and Biobank, University of Antwerp, Belgium. Keywords: Exertional rhabdomyolysis; RYR1; creatine kinase; myopathies PMID: 31070454 DOI: 10.1177/0310057X19835830
68. BMC Med Genet. 2019 May 8;20(1):78. doi: 10.1186/s12881-019-0804-0. A novel missense mutation in the MYH7 gene causes an uncharacteristic phenotype of myosin storage myopathy: a case report. Mamelona J1, Filice L2, Oussedik Y3, Crapoulet N4, Ouellette RJ4, Marrero A5,6. 1Department of Neurology, Dr.-Georges-L.-Dumont University Hospital Center, 330 University Avenue, Moncton, NB, E1C 2Z3, Canada. 2Centre de Formation Médicale du Nouveau-Brunswick, 100 Des Aboiteaux Street, Moncton, NB, E1A 7R1, Canada. 3Department of Pathology, Dr.-Georges-L.-Dumont University Hospital Center, 330 University Avenue, Moncton, NB, E1C 2Z3, Canada. 4Molecular Genetics, Dr.-Alfred-Bastarche Laboratory, 37 Providence Street, Moncton, NB, E1C 8X3, Canada. 5Department of Neurology, Dr.-Georges-L.-Dumont University Hospital Center, 330 University Avenue, Moncton, NB, E1C 2Z3, Canada. [email protected]. 6Centre de Formation Médicale du Nouveau-Brunswick, 100 Des Aboiteaux Street, Moncton, NB, E1A 7R1, Canada. [email protected]. Keywords: Case report; MYH7; Missense mutation; Myosin storage myopathy; Slow/cardiac beta-myosin heavy chain PMID: 31068177 PMCID: PMC6507130 DOI: 10.1186/s12881-019-0804-0
69. Semin Pediatr Neurol. 2019 Apr;29:71-82. doi: 10.1016/j.spen.2019.01.004. Epub 2019 Jan 16. Therapeutic Aspects in Congenital Myopathies. Jungbluth H1, Muntoni F2. 1Department of Paediatric Neurology, Neuromuscular Service, Evelina's Children Hospital, Guy's and St. Thomas' Hospital NHS Foundation Trust, London, United Kingdom; Randall Division for Cell and Molecular Biophysics, Muscle Signalling Section, London, United Kingdom; Department of Basic and Clinical Neuroscience, IoPPN, King's College, London, United Kingdom. Electronic address: [email protected]. 2The Dubowitz Neuromuscular Centre, Developmental Neurosciences Programme, UCL Great Ormond Street Institute of Child Health & Great Ormond Street Hospital for Children, London, United Kingdom; NIHR Great Ormond Street Hospital Biomedical Research Centre, London, United Kingdom. PMID: 31060727 DOI: 10.1016/j.spen.2019.01.004
70. Semin Pediatr Neurol. 2019 Apr;29:55-70. doi: 10.1016/j.spen.2019.01.007. Epub 2019 Feb 10. Myopathology of Congenital Myopathies: Bridging the Old and the New. Phadke R1. 1Dubowitz Neuromuscular Centre, Great Ormond Street Hospital for Children and Division of Neuropathology, National Hospital for Neurology and Neurosurgery, London, UK; Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, London, UK. Electronic address: [email protected]. PMID: 31060726 DOI: 10.1016/j.spen.2019.01.007
71. Semin Pediatr Neurol. 2019 Apr;29:44-54. doi: 10.1016/j.spen.2019.01.001. Epub 2019 Jan 16. The Use of Muscle Ultrasound in the Diagnosis and Differential Diagnosis of Congenital Disorders of Muscle in the Age of Next Generation Genetics. Saade DN1, Neuhaus SB1, Foley AR1, Bönnemann CG2. 1 Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD, USA. 2 Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD, USA. Electronic address: [email protected].
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PMID: 31060725 DOI: 10.1016/j.spen.2019.01.001
72. Semin Pediatr Neurol. 2019 Apr;29:23-29. doi: 10.1016/j.spen.2019.01.006. Epub 2019 Jan 16. Pregnancy and Delivery in Women With Congenital Myopathies. Rudnik-Schöneborn S1, Wallgren-Pettersson C2. 1Division of Human Genetics, Medical University Innsbruck, Innsbruck, Austria. Electronic address: sabine.rudnik@i- med.ac.at. 2The Folkhalsan Institute of Genetics and the Department of Medical and Clinical Genetics, Medicum, University of Helsinki, Helsinki, Finland. PMID: 31060722 DOI: 10.1016/j.spen.2019.01.006
73. Semin Pediatr Neurol. 2019 Apr;29:12-22. doi: 10.1016/j.spen.2019.01.005. Epub 2019 Jan 17. Update on the Genetics of Congenital Myopathies. Pelin K1, Wallgren-Pettersson C2. 1Molecular and Integrative Biosciences Research Programme, Faculty of Biological and Environmental Sciences, University of Helsinki, Helsinki, Finland; The Folkhälsan Institute of Genetics, Folkhälsan Research Center, and Department of Medical and Clinical Genetics, University of Helsinki, Helsinki, Finland. Electronic address: [email protected]. 2The Folkhälsan Institute of Genetics, Folkhälsan Research Center, and Department of Medical and Clinical Genetics, University of Helsinki, Helsinki, Finland. PMID: 31060721 DOI: 10.1016/j.spen.2019.01.005
Myopathies liées à la cavéoline 3 – CAV3 related myopathies 74. Nat Commun. 2019 Apr 29;10(1):1974. doi: 10.1038/s41467-019-09405-5. Dystrophy-associated caveolin-3 mutations reveal that caveolae couple IL6/STAT3 signaling with mechanosensing in human muscle cells. Dewulf M1, Köster DV2, Sinha B3, Viaris de Lesegno C1, Chambon V4, Bigot A5, Bensalah M5, Negroni E5, Tardif N1, Podkalicka J1,6,7, Johannes L4, Nassoy P8, Butler-Browne G5, Lamaze C9, Blouin CM10. 1Membrane Dynamics and Mechanics of Intracellular Signaling Laboratory, Institut Curie - Centre de Recherche, PSL Research University, CNRS UMR3666, INSERM U1143, Paris, 75248, France. 2Centre for Mechanochemical Cell Biology and Division of Biomedical Sciences, Warwick Medical School, University of Warwick, Coventry, CV4 7AL, UK. 3Department of Biological Sciences, Indian Institute of Science Education and Research (IISER) Kolkata, Mohanpur, 741 246, West Bengal, India. 4Endocytic Trafficking and Intracellular Delivery Laboratory, Institut Curie - Centre de Recherche, PSL Research University, CNRS UMR3666, INSERM U1143, Paris, 75248, France. 5Association Institut de Myologie, Centre de Recherche en Myologie, Sorbonne Université, INSERM, UMRS974, Paris, 75013, France. 6Laboratoire Physico-Chimie Curie, Institut Curie, PSL Research University, CNRS UMR168, Sorbonne Université, Paris, 75231, France. 7Laboratory of Cytobiochemistry, Faculty of Biotechnology, University of Wrocław, Wrocław, 50-383, Poland. 8LP2N, CNRS UMR 5298, IOA, Institut d'Optique Graduate School, Université de Bordeaux, Talence, 33400, France. 9Membrane Dynamics and Mechanics of Intracellular Signaling Laboratory, Institut Curie - Centre de Recherche, PSL Research University, CNRS UMR3666, INSERM U1143, Paris, 75248, France. [email protected]. 10Membrane Dynamics and Mechanics of Intracellular Signaling Laboratory, Institut Curie - Centre de Recherche, PSL Research University, CNRS UMR3666, INSERM U1143, Paris, 75248, France. [email protected]. PMID: 31036801 PMCID: PMC6488599 DOI:10.1038/s41467-019-09405-5 [Indexed for MEDLINE]
Myopathies liées à GNE – GNE myopathies 75. Neurology. 2019 Apr 30;92(18):e2109-e2117. doi: 10.1212/WNL.0000000000006932. Epub 2019 Jan 25. A phase 3 randomized study evaluating sialic acid extended-release for GNE myopathy. Lochmüller H1, Behin A2, Caraco Y2, Lau H2, Mirabella M2, Tournev I2, Tarnopolsky M2, Pogoryelova O2, Woods C2, Lai A2, Shah J2, Koutsoukos T2, Skrinar A2, Mansbach H2, Kakkis E2, Mozaffar T2. 1From the Institute of Genetic Medicine (H.L., O.P.), Newcastle University, Newcastle upon Tyne, UK; Children's Hospital of Eastern Ontario Research Institute (H.L.), University of Ottawa; Division of Neurology, Department of Medicine (H.L.), The Ottawa Hospital, Canada; APHP (A.B.), Centre de Référence de Pathologie Neuromusculaire, Institut de Myologie, Groupe Hospitalier Pitié-Salpêtrière, Paris, France; Hadassah Clinical Research Center (Y.C.), Hadassah-Hebrew
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University Medical Center, Jerusalem, Israel; Department of Neurology, Division of Neurogenetics (H.L.), NYU School of Medicine, New York, NY; Fondazione Policlinico Universitario A. Gemelli IRCCS (M.M.), Catholic University, Rome, Italy; Expert Center of Genetic Neurologic and Metabolic Disorders (I.T.), University Hospital Aleksandrovska, Sofia; Department of Neurology (I.T.), Medical University Sofia; Department of Cognitive Science and Psychology (I.T.), New Bulgarian University, Sofia, Bulgaria; Department of Pediatrics, Neuromuscular and Neurometabolic Clinic (M.T.), McMaster University Medical Center, Hamilton, Canada; Ultragenyx Pharmaceutical Inc. (C.W., A.L., J.S., T.K., A.S., H.M., E.K.), Novato, CA; and University of California Irvine (T.M.), Orange. H.L. is currently affiliated with the Department of Neuropediatrics and Muscle Disorders, Medical Center, University of Freiburg, Faculty of Medicine, Germany. [email protected]. 2From the Institute of Genetic Medicine (H.L., O.P.), Newcastle University, Newcastle upon Tyne, UK; Children's Hospital of Eastern Ontario Research Institute (H.L.), University of Ottawa; Division of Neurology, Department of Medicine (H.L.), The Ottawa Hospital, Canada; APHP (A.B.), Centre de Référence de Pathologie Neuromusculaire, Institut de Myologie, Groupe Hospitalier Pitié-Salpêtrière, Paris, France; Hadassah Clinical Research Center (Y.C.), Hadassah-Hebrew University Medical Center, Jerusalem, Israel; Department of Neurology, Division of Neurogenetics (H.L.), NYU School of Medicine, New York, NY; Fondazione Policlinico Universitario A. Gemelli IRCCS (M.M.), Catholic University, Rome, Italy; Expert Center of Genetic Neurologic and Metabolic Disorders (I.T.), University Hospital Aleksandrovska, Sofia; Department of Neurology (I.T.), Medical University Sofia; Department of Cognitive Science and Psychology (I.T.), New Bulgarian University, Sofia, Bulgaria; Department of Pediatrics, Neuromuscular and Neurometabolic Clinic (M.T.), McMaster University Medical Center, Hamilton, Canada; Ultragenyx Pharmaceutical Inc. (C.W., A.L., J.S., T.K., A.S., H.M., E.K.), Novato, CA; and University of California Irvine (T.M.), Orange. H.L. is currently affiliated with the Department of Neuropediatrics and Muscle Disorders, Medical Center, University of Freiburg, Faculty of Medicine, Germany. PMID: 31036580 DOI: 10.1212/WNL.0000000000006932
Myopathies inflammatoires – Inflammatory myopathies 76. BMC Neurol. 2019 May 3;19(1):87. doi: 10.1186/s12883-019-1303-9. Idiopathic inflammatory myopathy comorbid with Sturge-Weber syndrome: a case report. Deng L1, Wang D2, Ruan N1, Fu P3. 1Department of Rheumatology and Clinical Immunology, The Second Affiliated Hospital of Kunming Medical University, 374 Dianmian Avenue Wuhua District, Kunming, 650101, Yunnan, China. 2Department of Neurology, Nanfang Hospital, Southern Medical University, Guangzhou, 510515, Guangdong, China. 3Department of Rheumatology and Clinical Immunology, The Second Affiliated Hospital of Kunming Medical University, 374 Dianmian Avenue Wuhua District, Kunming, 650101, Yunnan, China. [email protected]. Keywords: Idiopathic inflammatory myopathy (IIM); Sturge-Weber syndrome (SWS) PMID: 31053110 PMCID: PMC6500033 DOI: 10.1186/s12883-019-1303-9
77. J Clin Neurosci. 2019 May 3. pii: S0967-5868(18)30932-9. doi: 10.1016/j.jocn.2019.04.002. [Epub ahead of print] The clinical and histopathological features of idiopathic inflammatory myopathies with asymmetric muscle involvement. Liu M1, Hou Y2, Dai T2, Lv J2, Li W2, Zhao Y2, Fang Q3, Yan C4. 1Department of Neurology, the First Affiliated Hospital of Soochow University, No. 899, Pinghai Road, Suzhou, Jiangsu 215006, China. 2Research Institute of Neuromuscular and Neurodegenerative Diseases and Department of Neurology, Qilu Hospital, Shandong University, No. 107, West Wenhua Road, Jinan, Shandong 250012, China. 3Department of Neurology, the First Affiliated Hospital of Soochow University, No. 899, Pinghai Road, Suzhou, Jiangsu 215006, China. Electronic address: [email protected]. 4Research Institute of Neuromuscular and Neurodegenerative Diseases and Department of Neurology, Qilu Hospital, Shandong University, No. 107, West Wenhua Road, Jinan, Shandong 250012, China; Brain Science Research Institute, Shandong University, Jinan, China; Mitochondrial Medicine Laboratory, Qilu Hospital(Qingdao), Shandong University, No. 758, Hefei Road, Qingdao, China. Electronic address: [email protected]. Keywords: Anti-mitochondrial antibody; Asymmetry; Mitochondrial abnormality; Myositis PMID: 31060889 DOI: 10.1016/j.jocn.2019.04.002
78. Br J Nurs. 2019 May 9;28(9):560-564. doi: 10.12968/bjon.2019.28.9.560. Benign acute childhood myositis: importance of early recognition. Steinson AC1, Mubashar T2, Janzen AF3, Poulton D4, Paul SP3. 1Trainee Physician Associate, Peninsula Medical School, University of Plymouth. 2Year 5 Medical Student, Medical School, University of Exeter. 3Consultant Paediatrician, Torbay Hospital, Torquay. 4Sister, Louisa Cary Ward, Torbay Hospital, Torquay. Keywords: Benign acute childhood myositis; Children; Creatine kinase; Influenza virus; Rhabdomyolysis; Self-limiting condition
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PMID: 31070976 DOI: 10.12968/bjon.2019.28.9.560
79. Ann Rheum Dis. 2019 May 8. pii: annrheumdis-2019-215515. [Epub ahead of print] Response to: 'Response to: 'Idiopathic inflammatory myopathies and antisynthetase syndrome: contribution of antisynthetase antibodies to improve current classification criteria' by Greco et al' by Knitza et al. Tjärnlund A1, Lundberg IE2. 1Division of Rheumatology, Department of Medicine, Solna, Karolinska Institutet and Karolinska University Hospital, Stockholm, Sweden. 2Division of Rheumatology, Department of Medicine, Solna, Karolinska Institutet and Karolinska University Hospital, Stockholm, Sweden [email protected]. Keywords: anti-synthetase syndrome; autoantibodies; myositis PMID: 31068326 DOI: 10.1136/annrheumdis-2019-215515
80. Neurology. 2019 May 7;92(19):e2297. doi: 10.1212/WNL.0000000000007465. Teaching NeuroImages: Pterygoid myositis mimicking giant cell arteritis. Na S1, Lee ES1, Kim YD2. 1From the Department of Neurology (S.N., Y.-D.K.), Incheon St. Mary's Hospital, The Catholic University of Korea; and the Department of Neurology (E.-S.L.), Soonchunhyang University College of Medicine, Bucheon, Korea. 2From the Department of Neurology (S.N., Y.-D.K.), Incheon St. Mary's Hospital, The Catholic University of Korea; and the Department of Neurology (E.-S.L.), Soonchunhyang University College of Medicine, Bucheon, Korea. [email protected]. PMID: 31061219 DOI: 10.1212/WNL.0000000000007465
81. Autoimmun Rev. 2019 May 3. pii: S1568-9972(19)30104-1 [Epub ahead of print] Anti-OJ autoantibodies: Rare or underdetected? Vulsteke JB1, Satoh M2, Malyavantham K3, Bossuyt X4, De Langhe E1, Mahler M5. 1Skeletal Biology and Engineering Research Center, Department of Development and Regeneration, KU Leuven, Leuven, Belgium; Department of Rheumatology, University Hospitals Leuven, Leuven, Belgium. 2Department of Clinical Nursing, School of Health Sciences, University of Occupational and Environmental Health, Japan. 3Research and Development, Inova Diagnostics, San Diego, USA. 4Department of Laboratory Medicine, University Hospitals Leuven, Leuven, Belgium; Clinical and Diagnostic Immunology, Department of Microbiology and Immunology, KU Leuven, Leuven, Belgium. 5Research and Development, Inova Diagnostics, San Diego, USA. Electronic address: [email protected]. Keywords: Anti-synthetase syndrome; Autoantibody; Idiopathic inflammatory myopathy; Isoleucyl-tRNA synthetase; Myositis; OJ PMID: 31059843 DOI: 10.1016/j.autrev.2019.05.002
82. Arthritis Rheumatol. 2019 May 6. doi: 10.1002/art.40919. [Epub ahead of print] Use of Proprotein Convertase Subtilisin/Kexin Type 9 (PCSK9) inhibitors in statin-associated immune mediated necrotizing myopathy: a case-series. Tiniakou E1, Rivera E2, Mammen AL3,4, Christopher-Stine L1. 1Division of Rheumatology, Department of Medicine, Johns Hopkins University, School of Medicine, Baltimore, Maryland, USA. 2Department of Medicine, Johns Hopkins University, School of Medicine, Baltimore, Maryland, USA. 3National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD, USA. 4Department of Neurology, Johns Hopkins University, School of Medicine, Baltimore, Maryland, USA. PMID: 31058470 DOI: 10.1002/art.40919
83. Cureus. 2019 Feb 26;11(2):e4139. doi: 10.7759/cureus.4139. Thin Patient, Fatty Liver. Mukthinuthalapati VVPK1, Attar BM2, Abu Omar Y1, Nath V3, Czapar C3, Gandhi SR2. 1Internal Medicine, John H. Stroger Jr. Hospital of Cook County, Chicago, USA. 2Gastroenterology and Hepatology, John H. Stroger Jr. Hospital of Cook County, Chicago, USA. 3Pathology, John H. Stroger Jr. Hospital of Cook County, Chicago, USA.
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Keywords: myositis; non alcoholic steatohepatitis PMID: 31058022 PMCID: PMC6485526 DOI: 10.7759/cureus.4139
84. Cureus. 2019 Feb 25;11(2):e4133. doi: 10.7759/cureus.4133. Hypomyopathic Dermatomyositis Presenting with Idiopathic CD4 T-lymphocytopenia and Delayed Anti-MDA5 Positivity. Mijares MC1, Aldahan AS2, Gonzalez HH1, Benhayoun N1, Alboukrek D3. 1Internal Medicine, Florida Atlantic University Charles E. Schmidt College of Medicine, Boca Raton, USA. 2Dermatology, University of Minnesota, Minneapolis, USA. 3Rheumatology, Florida Atlantic University Charles E. Schmidt College of Medicine, Boca Raton, USA. Keywords: anti-mda5; cd4 t-lymphocytopenia; hypomyopathic dermatomyositis; interstitial lung disease; mda5 PMID: 31058016 PMCID: PMC6485530 DOI: 10.7759/cureus.4133
85. Rheumatol Int. 2019 May 4. doi: 10.1007/s00296-019-04314-8. [Epub ahead of print] Polymyositis with mitochondrial pathology or atypical form of sporadic inclusion body myositis: case series and review of the literature. Papadimas GK1, Kokkinis C2, Xirou S3, Chrysanthou M3, Kararizou E3, Papadopoulos C3. 11st Department of Neurology, Medical School, Eginition Hospital, National and Kapodistrian University of Athens, 74, Vas. Sophias Ave, 11528, Athens, Greece. [email protected]. 2Department of Medical Genetics, Medical School, St. Sofia's Children's Hospital, National and Kapodistrian University of Athens, Athens, Greece. 31st Department of Neurology, Medical School, Eginition Hospital, National and Kapodistrian University of Athens, 74, Vas. Sophias Ave, 11528, Athens, Greece. Keywords: Inclusion body myositis; Mitochondria; Polymyositis; mtDNA PMID: 31055642 DOI: 10.1007/s00296-019-04314-8
86. Hematol Transfus Cell Ther. 2019 Apr 24. pii: S2531-1379(19)30046-X [Epub ahead of print] Refractory inflammatory myopathy in hematopoietic stem cell transplant patients with chronic graft- versus-host disease: report of two cases. Golec S1, Rabinovich E1, Cohen M2, Baer L2, Chamoun K2, Lima M3. 1Case Western Reserve University School of Medicine, 2109 Adelbert Rd, Cleveland, OH, USA. 2Case Western Reserve University School of Medicine, 2109 Adelbert Rd, Cleveland, OH, USA; Stem Cell Transplant Program, University Hospitals of Cleveland, USA. 3Case Western Reserve University School of Medicine, 2109 Adelbert Rd, Cleveland, OH, USA; Stem Cell Transplant Program, University Hospitals of Cleveland, USA. Electronic address: [email protected]. PMID: 31053488 DOI: 10.1016/j.htct.2019.01.002
87. Int J Rheum Dis. 2019 May 2. doi: 10.1111/1756-185X.13593. [Epub ahead of print] Two cases with autoantibodies to small ubiquitin-like modifier activating enzyme: A potential unique subset of dermatomyositis-associated interstitial lung disease. Gono T1, Tanino Y2, Nishikawa A1, Kawamata T2, Hirai K2, Okazaki Y1, Shibata Y2, Kuwana M1. 1Department of Allergy and Rheumatology, Nippon Medical School, Graduate School of Medicine, Tokyo, Japan. 2Department of Pulmonary Medicine, Fukushima Medical University School of Medicine, Fukushima, Japan. Keywords: anti-small ubiquitin-like modifier activating enzyme antibody; dermatomyositis; human leukocyte antigen; interstitial lung disease PMID: 31050194 DOI: 10.1111/1756-185X.13593
88. Br J Dermatol. 2019 May 3. doi: 10.1111/bjd.18096. [Epub ahead of print] Developing classification criteria for skin-predominant dermatomyositis: the Delphi process. Concha JSS1,2, Pena S1,2, Gaffney RG1,2, Patel B1,2, Tarazi M1,2, Kushner CJ1,2, Merola JF3, Fiorentino D4, Dutz JP5, Goodfield M6, Nyberg F7, Volc-Platzer B8, Fujimoto M9, Ang CC10; Skin Myositis Delphi Group, Werth VP1,2. 1Corporal Michael J. Crescenz VAMC, Philadelphia, Pennsylvania, USA. 2Department of Dermatology, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA. 3Department of Dermatology, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts.
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4Department of Dermatology, Stanford University School of Medicine, Redwood City, CA. 5Department of Dermatology and Skin Science, University of British Columbia, Vancouver, BC. 6Department of Dermatology, Leeds General Infirmary, Leeds, United Kingdom. 7Karolinska Universitetssjukhuset, Stockholm, Sweden. 8Department of Dermatology, Wiener Krankenanstaltenverbund, Vienna, Austria. 9Department of Dermatology, Faculty of Medicine, University of Tsukuba, Tsukuba, Japan. 10Department of Dermatology, Changi General Hospital, Singapore. PMID: 31049930 DOI: 10.1111/bjd.18096
89. Skin Appendage Disord. 2019 Apr;5(3):186-188. doi: 10.1159/000495805. Epub 2019 Jan 24. An Undetected Case of Tinea Capitis in an Elderly Woman Affected by Dermatomyositis: How Trichoscopy Can Guide to the Right Diagnosis. Vastarella M1, Gallo L1, Cantelli M1, Nappa P1, Fabbrocini G1. 1Dermatology Division, Department of Clinical Medicine and Surgery, University of Naples Federico II, Naples, Italy. Keywords: Alopecia; Dermatomycosis; Tinea capitis; Trichoscopy PMID: 31049345 PMCID: PMC6489035 [Available on 2020-04-01] DOI: 10.1159/000495805
90. Neurol Neuroimmunol Neuroinflamm. 2019 Apr 10;6(3):e558.. eCollection 2019 May. PD1 pathway in immune-mediated myopathies: Pathogenesis of dysfunctional T cells revisited. Knauss S1, Preusse C1, Allenbach Y1, Leonard-Louis S1, Touat M1, Fischer N1, Radbruch H1, Mothes R1, Matyash V1, Böhmerle W1, Endres M1, Goebel HH1, Benveniste O1, Stenzel W1. 1Department of Neurology (S.K., W.B., M.E.) and Department of Neuropathology (C.P., N.F., H.R., R.M., V.M., H.-H.G., W.S.), Charité-Universitätsmedizin, Berlin, Germany; Department of Internal Medicine and Clinical Immunology (Y.A., O.B.), Assistance Public-Hôpitaux de Paris, Sorbonne-Université, INSERM, UMR974, Pitié-Salpêtrière University Hospital; Unité de Pathologie Neuromusculaire (S.L.-L.), Centre de Référence Paris-Est, Groupe Hospitalier Pitié-Salpêtrière; Service de Neurologie 2-Mazarin (M.T.), Hôpitaux Universitaires La Pitié Salpêtrière-Charles Foix, APHP; OncoNeuroTox Group (M.T.), Center for Patients with Neurological Complications of Oncologic Treatments, Hôpitaux Universitaires Pitié- Salpetrière-Charles Foix et Hôpital Percy; Inserm U 1127 (M.T.), CNRS UMR 7225, Institut du Cerveau et de la Moelle épinière, ICM, Université Pierre-et-Marie-Curie, Sorbonne Université, Paris, France; Leibniz ScienceCampus Chronic Inflammation (H.R., R.M., W.S.); Center for Stroke Research Berlin (M.E.), Charité-Universitätsmedizin, Berlin; German Centre for Cardiovascular Research (DZHK) (M.E.); and German Center for Neurodegenerative Diseases (DZNE) (M.E.). PMID: 31044146 PMCID: PMC6467687 DOI: 10.1212/NXI.0000000000000558
91. Pan Afr Med J. 2018 Oct 17;31:117. doi: 10.11604/pamj.2018.31.117.11353. eCollection 2018. [Neonatal lupus in an infant of a mother followed up for dermatomyositis: medical images]. [Article in French] Cisse L1, Karabinta Y2. 1Service de Dermatologie Cnam (Ex Institut Marchoux), Bamako, Mali. 2Faculté de Médecine et d'Odonstomatologie Usttb, Bamako, Mali. Keywords: Lupus; dermatomyositis; neonatal PMID: 31037177 PMCID: PMC6462405 DOI: 10.11604/pamj.2018.31.117.11353 [Indexed for MEDLINE]
Maladie de Pompe – Pompe disease 92. J Hum Genet. 2019 May 10. doi: 10.1038/s10038-019-0603-7. [Epub ahead of print] Newborn screening for Pompe disease in Japan: report and literature review of mutations in the GAA gene in Japanese and Asian patients. Momosaki K1, Kido J2, Yoshida S1,3, Sugawara K1, Miyamoto T4, Inoue T4,5, Okumiya T6, Matsumoto S1, Endo F1,7, Hirose S4, Nakamura K1. 1Department of Pediatrics, Graduate School of Medical Sciences, Kumamoto University, Kumamoto, Japan. 2Department of Pediatrics, Graduate School of Medical Sciences, Kumamoto University, Kumamoto, Japan. [email protected]. 3KM Biologics Co., Ltd, Kumamoto, Japan. 4Department of Pediatrics, School of Medicine, Fukuoka University, Fukuoka, Japan. 5Department of Pediatrics, Fukuoka University Nishijin Hospital, Fukuoka, Japan. 6Department of Biomedical Laboratory Sciences, Faculty of Health Sciences, Kumamoto University, Kumamoto, Japan. 7Kumamoto-Ezuko Medical Center for Disabled Children, Kumamoto, Japan. PMID: 31076647 DOI: 10.1038/s10038-019-0603-7
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93. Mol Ther Methods Clin Dev. 2019 May 1;13:431. doi: 10.1016/j.omtm.2019.04.005. eCollection 2019 Jun 14. Erratum: Low-Dose Liver-Targeted Gene Therapy for Pompe Disease Enhances Therapeutic Efficacy of ERT via Immune Tolerance Induction. Han SO, Ronzitti G, Arnson B, Leborgne C, Li S, Mingozzi F, Koeberl D. Erratum for Low-Dose Liver-Targeted Gene Therapy for Pompe Disease Enhances Therapeutic Efficacy of ERT via Immune Tolerance Induction. [Mol Ther Methods Clin Dev. 2017] PMID: 31073535 PMCID: PMC6500922 DOI: 10.1016/j.omtm.2019.04.005
94. Pharmacoecon Open. 2019 May 2. doi: 10.1007/s41669-019-0142-3. [Epub ahead of print] A Systematic Review of the Health Economics of Pompe Disease. Schoser B1, Hahn A2, James E3, Gupta D4, Gitlin M5, Prasad S3. 1Friedrich-Baur-Institut, Neurologische Klinik, Klinikum der Universität München, Ludwig-Maximilians-University Munich, Munich, Germany. [email protected]. 2Department of Child Neurology, University of Giessen, Feulgenstrasse 12, 35385, Giessen, Germany. 3Audentes Therapeutics, 600 California Street, Floor 17, San Francisco, CA, 94108, USA. 4Bridge Medical Consulting Ltd, Gainsborough House, 2 Sheen Road, Richmond, London, UK. 5BluePath Solutions, 10951 West Pico Blvd, Suite 120, Los Angeles, CA, 90064, USA. PMID: 31049836 DOI: 10.1007/s41669-019-0142-3
95. Clin Rheumatol. 2019 May 1. doi: 10.1007/s10067-019-04572-8. [Epub ahead of print] Can hyperuricemia predict glycogen storage disease (McArdle's disease) in rheumatology practice? (Myogenic hyperuricemia). Üsküdar Cansu D1, Erdoğan B2, Korkmaz C3. 1Division of Rheumatology, Department of Internal Medicine, Eskişehir Osmangazi University, 26480, Eskişehir, Turkey. [email protected]. 2Department of Pathology, Eskişehir City Hospital, Eskişehir, Turkey. 3Division of Rheumatology, Department of Internal Medicine, Eskişehir Osmangazi University, 26480, Eskişehir, Turkey. Keywords: Glycogen storage disease type 5; Gout; Hyperuricemia; McArdle’s disease PMID: 31044384 DOI: 10.1007/s10067-019-04572-8
Myopathies mitochondriales – Mitochondrial myopathies 96. BMC Neurol. 2019 May 8;19(1):91. doi: 10.1186/s12883-019-1306-6. Diagnosis of adult-onset MELAS syndrome in a 63-year-old patient with suspected recurrent strokes - a case report. Sinnecker T1,2, Andelova M1, Mayr M3, Rüegg S1, Sinnreich M1, Hench J4, Frank S4, Schaller A5, Stippich C6, Wuerfel J2, Bonati LH7. 1Neurologic Clinic and Policlinic, Departments of Medicine, Clinical Research and Biomedical Engineering, University Hospital and University of Basel, Petersgraben 4, CH-4031, Basel, Switzerland. 2Medical Imaging Analysis Center AG, Basel, Switzerland. 3Department of Internal Medicine, University Hospital and University of Basel, Basel, Switzerland. 4Division of Neuropathology, Institute of Pathology, University Hospital and University of Basel, Basel, Switzerland. 5Division of Human Genetics, Department of Pediatrics, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland. 6Department of Radiology, University Hospital and University of Basel, Basel, Switzerland. 7Neurologic Clinic and Policlinic, Departments of Medicine, Clinical Research and Biomedical Engineering, University Hospital and University of Basel, Petersgraben 4, CH-4031, Basel, Switzerland. [email protected]. Keywords: MELAS; MRI; Recurrent ischemic strokes; Stroke-like episodes PMID: 31068171 PMCID: PMC6505262 DOI: 10.1186/s12883-019-1306-6
97. Expert Opin Pharmacother. 2019 May 7:1-9. doi: 10.1080/14656566.2019.1609941. [Epub ahead of print] Pharmacotherapeutic management of epilepsy in MERRF syndrome. Finsterer J1. 1a Krankenanstalt Rudolfstiftung , Messerli Institute , Vienna , Austria. Keywords: MERRF syndrome; antiepileptic drugs; epilepsy; gene; m.8344A>G; mitochondrial disorder; seizures
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Veille Neuromusculaire / Neuromuscular bibliography Bibliographie sur les maladies neuromusculaires / Bibliography on neuromuscular disorders n° 2019-05-1 du 1 au 12 Mai 2019 (Mai 1 to 12, 2019)
PMID: 31063406 DOI: 10.1080/14656566.2019.1609941
98. Orphanet J Rare Dis. 2019 May 6;14(1):100. doi: 10.1186/s13023-019-1071-z. Late-onset thymidine kinase 2 deficiency: a review of 18 cases. Domínguez-González C1,2,3, Hernández-Laín A4, Rivas E5, Hernández-Voth A6, Sayas Catalán J6, Fernández-Torrón R7, Fuiza-Luces C2,3,8, García García J9, Morís G10, Olivé M11, Miralles F12, Díaz-Manera J3,13, Caballero C14, Méndez-Ferrer B15, Martí R3,16, García Arumi E3,17, Badosa MC16, Esteban J1,2,3, Jimenez-Mallebrera C3,16, Encinar AB2,3,8, Arenas J2,3,8, Hirano M18, Martin MÁ2,3,8, Paradas C19,20. 1Neurology department, Neuromuscular disorders Unit, 12 de Octubre Hospital, Madrid, Spain. 2Research Institute i+12, 12 de Octubre Hospital, Madrid, Spain. 3Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain. 4Neuropathology, Pathology Department, Neuromuscular disorders Unit, 12 de Octubre Hospital, Madrid, Spain. 5Pathological Anatomic Department, Neuromuscular Disorders Unit, Instituto de Biomedicina de Sevilla, Hospital U. Virgen del Rocío, CSIC, Universidad de Sevilla, Sevilla, Spain. 6Neumology department, Neuromuscular disorders Unit, 12 de Octubre Hospital, Madrid, Spain. 7Neurology Department, Neuromuscular disorders Unit, Hospital de Donostia, San Sebastian, Spain. 8Mitochondrial and Neuromuscular Diseases Laboratory, Research Institute of Hospital '12 de Octubre' ('i+12'), Madrid, Spain. 9Neurology Department, Hospital de Albacete, Albacete, Spain. 10Neurology Department, Neuromuscular disorders Unit, Hospital Central de Asturias, Oviedo, Spain. 11Pathological Anatomy Department, Neuromuscular disorders unit, IDIBELL-Hospital de Bellvitge, Barcelona, Spain. 12Neurology department, Neuromuscular disorders unit, Hospital Universitari Son Espases, Palma, Spain. 13Neurology department, Neuromuscular disorders unit, Hospital de la Santa Creu I Sant Pau, Barcelona, Spain. 14Respiratory Department, Instituto de Biomedicina de Sevilla, Hospital U. Virgen del Rocío, CSIC, CIBERES, Universidad de Sevilla, Sevilla, Spain. 15Rehabilitation Department, Hospital Virgen del Rocio, Sevilla, Spain. 16Neuromuscular Unit, Neurology Department, Institut de Recerca Sant Joan de Déu, Hospital Sant Joan de Déu, Barcelona, Spain. 17Research group on Neuromuscular and Mitochondrial Diseases, Valld'Hebron Research Institute, Universitat Autònoma de Barcelona, Barcelona, Spain. 18Department of Neurology, H. Houston Merritt Center, Columbia University Medical Center, New York, New York, USA. 19Neurology Department, Neuromuscular Disorders Unit, Instituto de Biomedicina de Sevilla, Hospital U. Virgen del Rocío, CSIC, Universidad de Sevilla, Avd. Manuel Siurot s/n, 41013, Sevilla, Spain. [email protected]. 20Biomedical Network Research Centre on Neurodegenerative Diseases (CIBERNED), Madrid, Spain. [email protected]. Keywords: Mitochondrial myopathy; Multiple deletions; TK2 deficiency PMID: 31060578 PMCID: PMC6501326 DOI: 10.1186/s13023-019-1071-z
99. Rev Neurol (Paris). 2019 Apr 30. pii: S0035-3787(18)30805-1. [Epub ahead of print] Life-threatening lactic acidosis occurring in adults with mitochondrial disorders. Brisset M1, Béhin A2, Pottier C3, Jardel C4, Sharshar T5, Mochel F6, Mallard F7, Slama A8, Lombès A9, Eymard B2, Laforêt P10. 1Service de neurologie, centre de référence de pathologie neuromusculaire Nord/Est/Île-de-France, hôpital Raymond- Poincaré, AP-HP, 104, boulevard Raymond-Poincaré, 92380 Garches. 2Centre de référence de pathologie neuromusculaire Nord/Est/Île-de-France, institut de myologie, Groupe hospitalier Pitié- Salpêtrière, AP-HP, 75013 Paris, France. 3Service de neurologie, centre hospitalier René-Dubos, 95300 Pontoise, France. 4UF cardiogénétique et myogénétique moléculaire et cellulaire, groupe hospitalier Pitié-Salpêtrière, AP-HP, 75013 Paris, France. 5Service de réanimation, hôpital Sainte-Anne, AP-HP, 75014 Paris, France. 6Inserm U 1127, CNRS UMR 7225, Sorbonne universités, UPMC université Paris 06 UMR S 1127, institut du cerveau et de la moelle épinière, ICM, 75013 Paris, France; Département de génétique, groupement hospitalier Pitié-Salpêtrière- Charles Foix, AP-HP, 75013 Paris, France; GRC UPMC Neurométabolique, groupement hospitalier Pitié-Salpêtrière- Charles Foix, 75013 Paris, France. 7Service de réanimation polyvalente, centre médico-chirurgical de l'Europe, 78560 Le Port Marly, France. 8Laboratoire de Biochimie, hôpital de Bicêtre, AP-HP, 94270 Le Kremlin-Bicêtre, France. 9Inserm, institut Cochin, U1016, CNRS UMR 8104, 75014 Paris, France. 10Service de neurologie, centre de référence de pathologie neuromusculaire Nord/Est/Île-de-France, hôpital Raymond- Poincaré, AP-HP, 104, boulevard Raymond-Poincaré, 92380 Garches. Electronic address: [email protected]. Keywords: Critical care; Lactic acidosis; Mitochondrial disorders; Muscle disease; Status epilepticus PMID: 31053354 DOI: 10.1016/j.neurol.2018.12.004
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100. Am J Hum Genet. 2019 May 2;104(5):784-801. doi: 10.1016/j.ajhg.2019.03.019. Disease-Associated Genetic Variation in Human Mitochondrial Protein Import. Nicolas E1, Tricarico R1, Savage M2, Golemis EA1, Hall MJ3. 1Molecular Therapeutics Program, Fox Chase Cancer Center, Philadelphia, PA 19111, USA. 2Cancer Prevention and Control Program, Department of Clinical Genetics, Fox Chase Cancer Center, Philadelphia, PA 19111, USA. 3Cancer Prevention and Control Program, Department of Clinical Genetics, Fox Chase Cancer Center, Philadelphia, PA 19111, USA. Electronic address: [email protected]. PMID: 31051112 PMCID: PMC6506819 [Available on 2019-11-02] DOI: 10.1016/j.ajhg.2019.03.019
101. Neurologist. 2019 May;24(3):90-92. doi: 10.1097/NRL.0000000000000229. Late-onset Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like Episodes Presenting With Auditory Agnosia. Smith K1, Chiu S2, Hunt C3, Chandregowda A1, Babovic-Vuksanovic D4, Keegan BM1. 1Departments of Neurology. 2Department of Neurology, University of Florida, Gainesville, FL. 3Radiology. 4Clinical Genomics, Mayo Clinic, Rochester, MN. PMID: 31045719 DOI: 10.1097/NRL.0000000000000229
102. Hum Mol Genet. 2019 Apr 30. pii: ddz093. doi: 10.1093/hmg/ddz093. [Epub ahead of print] MRPS25 mutations impair mitochondrial translation and cause encephalomyopathy. Bugiardini E1,2, Mitchell AL3, Rosa ID3, Horning-Do HT4, Pitmann A2, Poole OV1,2, Holton JL1, Shah S1, Woodward C5, Hargreaves I6, Quinlivan R1, Amunts A7,8, Wiesner RJ4, Houlden H2, Holt IJ3,9, Hanna MG1,2, Pitceathly RDS1,2, Spinazzola A1,3. 1MRC Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology and National Hospital for Neurology and Neurosurgery, Queen Square, London WC1N 3BG, UK. 2Department of Neuromuscular Disorders, UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK. 3Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, Royal Free Campus, London, NW3 2PF, UK. 4Center for Physiology and Pathophysiology, Institute of Vegetative Physiology, Medical Faculty, University of Köln, 50931 Köln, Germany. 5Neurogenetic Unit, National Hospital for Neurology and Neurosurgery, Queen Square, London WC1N 3BG, UK. 6Neurometabolic Unit, National Hospital for Neurology and Neurosurgery, Queen Square, London WC1N 3BG, UK. 7Science for Life Laboratory, Department of Biochemistry and Biophysics, Stockholm University, 17165 Solna, Sweden. 8Department of Medical Biochemistry and Biophysics, Karolinska Institutet, 17177 Stockholm, Sweden. 9Biodonostia Health Research Institute, 20014 San Sebastián, Spain. IKERBASQUE, Basque Foundation for Science, 48013 Bilbao, Spain. CIBERNED (Center for Networked Biomedical Research on Neurodegenerative Diseases, Ministry of Economy and Competitiveness, Institute Carlos III), Madrid, Spain. PMID: 31039582 DOI: 10.1093/hmg/ddz093
Titinopathies – Titinopathies 103. Neuromuscul Disord. 2019 Mar 14. pii: S0960-8966(19)30003-3. [Epub ahead of print] Recessive mutations in proximal I-band of TTN gene cause severe congenital multi-minicore disease without cardiac involvement. Ge L1, Fu X1, Zhang W2, Wang D3, Wang Z2, Yuan Y2, Nonaka I4, Xiong H5. 1Department of Pediatrics, Peking University First Hospital, No.1 Xi'an Men Street, West District, Beijing 100034, China. 2Department of Neurology, Peking University First Hospital, Beijing 100034, China. 3Department of Neurology, Xi'an Children's Hospital, Xi'an, Shaanxi 710003, China. 4National Center of Neurology and Psychiatry, National Center Hospital, Kodaira, Tokyo 187-8551, Japan. 5Department of Pediatrics, Peking University First Hospital, No.1 Xi'an Men Street, West District, Beijing 100034, China. Electronic address: [email protected]. Keywords: Congenital titinopathy; Electron microscopy study; Histochemical staining; Minigene; Multi-minicore disease; TTN PMID: 31053406 DOI: 10.1016/j.nmd.2019.03.007
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Syndrome de Lambert-Eaton – Lambert-eaton myasthenic syndrome 104. J Clin Neurosci. 2019 May 6. pii: S0967-5868(18)31187-1. doi: 10.1016/j.jocn.2019.04.003. [Epub ahead of print] Clinical characteristics and long term follow-up of Lambert-Eaton myasthenia syndrome in patients with and without small cell lung cancer. Liu Y1, Xi J1, Zhou L1, Wu H2, Yue D2, Zhu W1, Lin J1, Lu J1, Zhao C3, Qiao K4. 1Department of Neurology, Huashan Hospital, Fudan University, Shanghai 20040, China. 2Department of Neurology, Jing'an District Center Hospital of Shanghai, 20040, China. 3Department of Neurology, Huashan Hospital, Fudan University, Shanghai 20040, China; Department of Neurology, Jing'an District Center Hospital of Shanghai, 20040, China. 4Department of Neurology, Huashan Hospital, Fudan University, Shanghai 20040, China. Electronic address: [email protected]. Keywords: Electrophysiology; Lambert–Eaton myasthenic syndrome; Small cell lung cancer; Survival PMID: 31072737 DOI: 10.1016/j.jocn.2019.04.003
Syndrome myasthénique congénital – Congenital Myasthenic Syndrome 105. Iran J Child Neurol. 2019 Spring;13(2):135-143. No Hot Spot Mutations CHRNE c.1327 delG, CHAT c.914T>C, and RAPSN c.264C>A in Iranian Patients with Congenital Myasthenic Syndrome. Parvizi Omran S1, Houshmand M2, Dominic D3, Farjami Z4, Karimzadeh P5,6. 1Department of Biology, Damghan Branch, Islamic Azad University, Damghan, Iran. 2Department of Human Genetics, National Institute of Genetic Engineerin -Biotechnology, Tehran, Iran. 3Department of Biology, Concordia University, Montreal, Canada. 4Department of Modern Sciences and Technologies, Faculty of Medicine, Mashhad University of Medical Sciences. 5Pediatric Neurology Research Center, Research Institute for Children's Health, Shahid Beheshti University of Medical Sciences, Tehran, Iran. 6Pediatric Neurology Department, Mofid Children's Hospital, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran. Keywords: CHAT; CHRNE; Congenital myasthenic syndrome; Hot spot mutation; Rapsyn PMID: 31037086 PMCID: PMC6451864 [Available on 2019-06-01]
Maladies neuromusculaires (plusieurs pathologies) – Neuromuscular diseases (Multiple) 106. Nutr Clin Pract. 2019 May 10. doi: 10.1002/ncp.10312. [Epub ahead of print] Spontaneous Restoration of Nutrition Autonomy in a Case of Intestinal Failure Secondary to a Gastrointestinal Neuromuscular Disease. McCulloch A1, Malhi H2, Parkinson S2, Martin JE3, Cooper SC1,2. 1Department of Gastroenterology, University Hospitals Birmingham NHS Foundation Trust, Birmingham, United Kingdom. 2Nutrition Support Team, Queen Elizabeth Hospital Birmingham, University Hospitals Birmingham NHS Foundation Trust, Edgbaston, Birmingham, United Kingdom. 3Blizard Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, United Kingdom. Keywords: enteric dysmotility; gastrointestinal neuromuscular disease; parenteral nutrition; polyglucosan body myopathy PMID: 31074888 DOI: 10.1002/ncp.10312
107. Curr Rheumatol Rep. 2019 May 9;21(6):27. doi: 10.1007/s11926-019-0823-z. Myalgic Encephalomyelitis, Chronic Fatigue Syndrome, and Chronic Fatigue: Three Distinct Entities Requiring Complete Different Approaches. Twisk FNM1. 1ME-de-patiënten Foundation, Zonnedauw 15, 1906 HB, Limmen, The Netherlands. [email protected]. Keywords: Biopsychosocial; Chronic fatigue syndrome; Diagnosis; Myalgic encephalomyelitis; Neuromuscular disease; Therapies PMID: 31073713 DOI: 10.1007/s11926-019-0823-z
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108. J Pediatr Intensive Care. 2018 Jun;7(2):75-80. doi: 10.1055/s-0037-1605369. Epub 2017 Aug 11. Impact of the Regional Pediatric Palliative Care Network on the Care of Children on Long-Term Ventilation: Could the Availability of a Residential Solution into the Network Reduce the Duration of Intensive Care Unit Staying for These Patients? Rusalen F1, Agosto C1, Brugnaro L2, Benini F1. 1Pediatric Palliative Care and Pain Service, Pediatric Hospice, Department of Woman and Child's Health, University of Padua, Padua, Italy. 2Department of Education and Training, University Hospital Padua, Padua, Italy. Keywords: Pediatric Palliative Care; intensive care; life-limiting disease; long-term ventilation; mechanical ventilation PMID: 31073474 PMCID: PMC6260342 [Available on 2019-06-01] DOI: 10.1055/s-0037-1605369
109. Wiad Lek. 2019;72(4):682-684. Experience in treatment of patients with esophageal achalasia. Shaprynskyi VO1, Kanikovskyi OY1, Shaprynskyi YV1, Karyi YV1. 1Department Of Surgery, Medical Faculty No 2, National Pirogov Memorial Medical University, Vinnytsya, Ukraine. Keywords: cardiodilatation ; esophageal achalasia ; surgical treatment PMID: 31055556
110. Paediatr Respir Rev. 2019 Apr 5. pii: S1526-0542(19)30031-4. [Epub ahead of print] Transition of patients with neuromuscular disease and chronic ventilator-dependent respiratory failure from pediatric to adult pulmonary care. Cheng PC1, Panitch HB2, Hansen-Flaschen J3. 1Division of Pulmonary Medicine, Children's Hospital of Philadelphia, Philadelphia, PA, United States. Electronic address: [email protected]. 2Division of Pulmonary Medicine, Children's Hospital of Philadelphia, Philadelphia, PA, United States. 3Division of Pulmonary, Allergy, & Critical Care, Hospital of the University of Pennsylvania, Philadelphia, PA, United States. Keywords: Mechanical ventilation; Noninvasive ventilation; Tracheostomy; Transition medicine PMID: 31053356 DOI: 10.1016/j.prrv.2019.03.005
111. Cells. 2019 May 1;8(5). pii: E406. doi: 10.3390/cells8050406. Skeletal Muscle Response to Deflazacort, Dexamethasone and Methylprednisolone. Fappi A1, Neves JC2, Sanches LN3, Massaroto E Silva PV4, Sikusawa GY5, Brandão TPC6, Chadi G7, Zanoteli E8. 1Department of Neurology, Faculdade de Medicina FMUSP, Universidade de Sao Paulo, São Paulo, SP 01246-904, Brazil. [email protected]. 2Department of Neurology, Faculdade de Medicina FMUSP, Universidade de Sao Paulo, São Paulo, SP 01246-904, Brazil. [email protected]. 3Department of Neurology, Faculdade de Medicina FMUSP, Universidade de Sao Paulo, São Paulo, SP 01246-904, Brazil. [email protected]. 4Department of Neurology, Faculdade de Medicina FMUSP, Universidade de Sao Paulo, São Paulo, SP 01246-904, Brazil. [email protected]. 5Department of Neurology, Faculdade de Medicina FMUSP, Universidade de Sao Paulo, São Paulo, SP 01246-904, Brazil. [email protected]. 6Department of Neurology, Faculdade de Medicina FMUSP, Universidade de Sao Paulo, São Paulo, SP 01246-904, Brazil. [email protected]. 7Department of Neurology, Faculdade de Medicina FMUSP, Universidade de Sao Paulo, São Paulo, SP 01246-904, Brazil. [email protected]. 8Department of Neurology, Faculdade de Medicina FMUSP, Universidade de Sao Paulo, São Paulo, SP 01246-904, Brazil. [email protected]. Keywords: IGF-1; MEK/ERK; Myostatin; glucocorticoid; muscle atrophy; skeletal muscle PMID: 31052442 DOI: 10.3390/cells8050406
112. Sci Rep. 2019 May 2;9(1):6852. doi: 10.1038/s41598-019-43398-x. Physiological and pathological skeletal muscle T1 changes quantified using a fast inversion-recovery radial NMR imaging sequence. Marty B1,2, Carlier PG3,4. 1Institute of Myology, Neuromuscular Investigation Center, NMR Laboratory, Paris, France. [email protected]. 2CEA, DRF, IBFJ, MIRCen, NMR Laboratory, Paris, France. [email protected]. 3Institute of Myology, Neuromuscular Investigation Center, NMR Laboratory, Paris, France. 4CEA, DRF, IBFJ, MIRCen, NMR Laboratory, Paris, France. PMID: 31048765 DOI: 10.1038/s41598-019-43398-x
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Divers – Miscellaneous 113. Cell Stem Cell. 2019 May 2;24(5):821-828.e5. doi: 10.1016/j.stem.2019.04.001. Highly Efficient and Marker-free Genome Editing of Human Pluripotent Stem Cells by CRISPR-Cas9 RNP and AAV6 Donor-Mediated Homologous Recombination. Martin RM1, Ikeda K1, Cromer MK1, Uchida N2, Nishimura T3, Romano R1, Tong AJ1, Lemgart VT1, Camarena J1, Pavel- Dinu M1, Sindhu C1, Wiebking V1, Vaidyanathan S1, Dever DP1, Bak RO1, Laustsen A4, Lesch BJ1, Jakobsen MR4, Sebastiano V5, Nakauchi H3, Porteus MH6. 1Department of Pediatrics, Stanford University, Stanford, CA 94305, USA. 2ReGen Med Division, BOCO Silicon Valley, Palo Alto, CA 94303, USA. 3Department of Genetics, Stanford University, Stanford, CA 94305, USA. 4Department of Biomedicine, Aarhus University, Wilhelm Meyers Alle 4, 8000 Aarhus C, Denmark; Aarhus Research Centre of Innate Immunology, Aarhus University, Wilhelm Meyers Alle 4, 8000 Aarhus C, Denmark. 5Department of Obstetrics & Gynecology, Stanford University, Stanford, CA 94305, USA. 6Department of Pediatrics, Stanford University, Stanford, CA 94305, USA. Electronic address: [email protected]. Keywords: AAV6; CRISPR/Cas9; ESC; RNP; electroporation; gene targeting; genome editing; homology-directed repair; iPSC; sgRNA PMID: 31051134 DOI: 10.1016/j.stem.2019.04.001
114. Channels (Austin). 2019 Dec;13(1):153-161. doi: 10.1080/19336950.2019.1614415. Compound heterozygous CACNA1H mutations associated with severe congenital amyotrophy. Carter MT1, McMillan HJ1, Tomin A2, Weiss N2. 1a Children's Hospital of Eastern Ontario Research Institute , University of Ottawa , Ottawa , Ontario , Canada. 2b Institute of Organic Chemistry and Biochemistry , Czech Academy of Sciences , Prague , Czech Republic. Keywords: CACNA1H; Ca3.2 channel; Congenital amyotrophy; T-type channel; calcium channel; mutations PMID: 31070086 DOI: 10.1080/19336950.2019.1614415
115. Am J Hum Genet. 2019 May 2;104(5):847-860. doi: 10.1016/j.ajhg.2019.03.007. COL4A1 Mutations Cause Neuromuscular Disease with Tissue-Specific Mechanistic Heterogeneity. Labelle-Dumais C1, Schuitema V1, Hayashi G1, Hoff K1, Gong W2, Dao DQ1, Ullian EM1, Oishi P2, Margeta M3, Gould DB4. 1Department of Ophthalmology, University of California, San Francisco, San Francisco, CA 94143, USA. 2Department of Pediatrics, University of California, San Francisco, San Francisco, CA 94143, USA. 3Department of Pathology, University of California, San Francisco, San Francisco, CA 94143, USA. 4Department of Ophthalmology, University of California, San Francisco, San Francisco, CA 94143, USA; Department of Anatomy, University of California, San Francisco, San Francisco, CA 94143, USA; Institute for Human Genetics, University of California, San Francisco, San Francisco, CA 94143, USA. Electronic address: [email protected]. Keywords: 4-phenylbutyrate; Basement Membrane; COL4A1; COL4A2; Collagen IV; ECM; Myopathy; Neuromuscular disease; Schwann cells; myelination PMID: 31051113 PMCID: PMC6506795 [Available on 2019-11-02] DOI: 10.1016/j.ajhg.2019.03.007
116. PLoS One. 2019 May 2;14(5):e0211522. doi: 10.1371/journal.pone.0211522. eCollection 2019. Combined methods to evaluate human cells in muscle xenografts. Bensalah M1, Klein P1, Riederer I2,3, Chaouch S1, Muraine L1, Savino W2,3, Butler-Browne GS1, Trollet C1, Mouly V1, Bigot A1, Negroni E1. 1Sorbonne Université, Myology Research Center, UM76 and INSERM U974, Institut de Myologie, Paris, France. 2Laboratory on Thymus Research, Oswaldo Cruz Institute, Fiocruz, Rio de Janeiro, Brazil. 3Brazilian National Institute of Science and Technology on Neuroimmunomodulation, Oswaldo Cruz Institute, Oswaldo Cruz Foundation, Rio de Janeiro, Brazil. PMID: 31048846 DOI: 10.1371/journal.pone.0211522
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Certaines références présentées par maladies sont triées ci-dessous par spécialités. Some of citations presented by diseases are sorted below by specialties.
Anatomopathologie – Anatomical pathology Neurol Genet. 2019 Mar 1;5(2):e315. doi: 10.1212/NXG.0000000000000315. eCollection 2019 Apr. Clinical, genetic, and pathologic characterization of FKRP Mexican founder mutation c.1387A>G. Lee AJ1, Jones KA1, Butterfield RJ1, Cox MO1, Konersman CG1, Grosmann C1, Abdenur JE1, Boyer M1, Beson B1, Wang C1, Dowling JJ1, Gibbons MA1, Ballard A1, Janas JS1, Leshner RT1, Donkervoort S1, Bönnemann CG1, Malicki DM1, Weiss RB1, Moore SA1, Mathews KD1. 1University of Iowa (A.J.L.), Carver College of Medicine; Department of Pathology (K.A.J., M.O.C., S.A.M.), University of Iowa; Departments of Pediatrics and Neurology (R.J.B.), University of Utah; Department of Neurology (C.G.K.), University of California San Diego; Department of Neurology (C.G.), Gillette Children's Specialty Healthcare; Division of Metabolic Disorders (J.E.A., M.B.), CHOC Children's; Department of Neurology (B.B.), Integris Southwest Medical Center; Departments of Pediatrics and Neurology (C.W.), Driscoll Children's Hospital; Departments of Paediatrics and Molecular Genetics (J.J.D.), Hospital for Sick Children, University of Toronto; Departments of Pediatrics and Neurology (M.A.G., J.S.J.), University of Colorado; Department of Physical Medicine and Rehabilitation (A.B.), University of Colorado; Department of Neurosciences (R.T.L.), University of California San Diego; National Institutes of Health (S.D., C.G.B.), Institute of Neurological Disorders and Stroke; Department of Pathology (D.M.M.), University of California San Diego; Department of Human Genetics (R.B.W.), University of Utah; and Departments of Pediatrics and Neurology (K.D.M.), University of Iowa. PMID: 31041397 PMCID: PMC6454397 DOI: 10.1212/NXG.0000000000000315
Neurol Neuroimmunol Neuroinflamm. 2019 Apr 10;6(3):e558.. eCollection 2019 May. PD1 pathway in immune-mediated myopathies: Pathogenesis of dysfunctional T cells revisited. Knauss S1, Preusse C1, Allenbach Y1, Leonard-Louis S1, Touat M1, Fischer N1, Radbruch H1, Mothes R1, Matyash V1, Böhmerle W1, Endres M1, Goebel HH1, Benveniste O1, Stenzel W1. 1Department of Neurology (S.K., W.B., M.E.) and Department of Neuropathology (C.P., N.F., H.R., R.M., V.M., H.-H.G., W.S.), Charité-Universitätsmedizin, Berlin, Germany; Department of Internal Medicine and Clinical Immunology (Y.A., O.B.), Assistance Public-Hôpitaux de Paris, Sorbonne-Université, INSERM, UMR974, Pitié-Salpêtrière University Hospital; Unité de Pathologie Neuromusculaire (S.L.-L.), Centre de Référence Paris-Est, Groupe Hospitalier Pitié-Salpêtrière; Service de Neurologie 2-Mazarin (M.T.), Hôpitaux Universitaires La Pitié Salpêtrière-Charles Foix, APHP; OncoNeuroTox Group (M.T.), Center for Patients with Neurological Complications of Oncologic Treatments, Hôpitaux Universitaires Pitié- Salpetrière-Charles Foix et Hôpital Percy; Inserm U 1127 (M.T.), CNRS UMR 7225, Institut du Cerveau et de la Moelle épinière, ICM, Université Pierre-et-Marie-Curie, Sorbonne Université, Paris, France; Leibniz ScienceCampus Chronic Inflammation (H.R., R.M., W.S.); Center for Stroke Research Berlin (M.E.), Charité-Universitätsmedizin, Berlin; German Centre for Cardiovascular Research (DZHK) (M.E.); and German Center for Neurodegenerative Diseases (DZNE) (M.E.). PMID: 31044146 PMCID: PMC6467687 DOI: 10.1212/NXI.0000000000000558
Cardiologie – Cardiology Orphanet J Rare Dis. 2019 May 10;14(1):105. doi: 10.1186/s13023-019-1066-9. Effect and safety of treatment with ACE-inhibitor Enalapril and β-blocker metoprolol on the onset of left ventricular dysfunction in Duchenne muscular dystrophy - a randomized, double-blind, placebo- controlled trial. Dittrich S1,2, Graf E3, Trollmann R4, Neudorf U5, Schara U6, Heilmann A7, von der Hagen M8, Stiller B9, Kirschner J10, Pozza RD11, Müller-Felber W12, Weiss K13, von Au K14, Khalil M15, Motz R16, Korenke C17, Lange M18, Wilichowski E19, Pattathu J20, Ebinger F21, Wiechmann N22, Schröder R23; German Competence Network for Congenital Heart Defects and the Treat- NMD Neuromuscular Network Investigators list of additional local Investigators and co-workers of the German Competence Network for Congenital Heart Defects and the Treat-NMD Neuromuscular Network. Collaborators (21) 1Department Pediatric Cardiology, Erlangen University Hospital, Friedrich-Alexander Universität Erlangen-Nürnberg, Loschgestraße 15, 91054, Erlangen, Germany. [email protected]. 2German Competence Network for Congenital Heart Defects partner site, Berlin, Germany. [email protected]. 3Institute of Medical Biometry and Statistics, Clinical Trials Unit, Faculty of Medicine and Medical Center, University of Freiburg, Freiburg, Germany. 4Department of Pediatrics, Division of Pediatric Neurology, Erlangen University Hospital, Friedrich-Alexander Universität Erlangen-Nürnberg, Erlangen, Germany. 5Clinic for Pediatrics III, University Hospital Essen, Essen, Germany. 6Department of Neuropediatrics, University Hospital Essen, Essen, Germany.
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Veille Neuromusculaire / Neuromuscular bibliography Bibliographie sur les maladies neuromusculaires / Bibliography on neuromuscular disorders n° 2019-05-1 du 1 au 12 Mai 2019 (Mai 1 to 12, 2019)
7Department of Pediatrics, University Hospital Carl Gustav Carus, Dresden, Germany. 8Department of Neurological Surgery, University Hospital Carl-Gustav-Carus, Technical University of Dresden, Dresden, Germany. 9Department of Congenital Heart Disease and Pediatric Cardiology, University Heart Center Freiburg, Bad Krozingen, Freiburg, Germany. 10Department of Neuropediatrics and Muscle Disorders, University Medical Center, Freiburg, Germany. 11Department of Pediatric Cardiology, Ludwig Maximilians-University of Munich, Munich, Germany. 12Department of Pediatric Neurology and Developmental Medicine, Ludwig-Maximilians- University of Munich, Munich, Germany. 13Pediatric Cardiology and Congenital Heart Disease, University Hospital Charité, Berlin, Germany. 14Department of Pediatrics, Division of Neurology, University Hospital Charité, Berlin, Germany. 15Division of Pediatric Heart Surgery, Pediatric Heart Center, University Hospital UKGM, Justus-Liebig University, Giessen, Germany. 16Department of Pediatric Cardiology, Elisabeth Children's Hospital, Oldenburg, Germany. 17Department of Pediatric Neurology, Oldenburg, Germany. 18Department of Pediatric Cardiology and Intensive Care Medicine, Heart Center, University Medical Center Göttingen, Göttingen, Germany. 19Department of Pediatrics and Adolescent Medicine, Division of Pediatric Neurology, University Medical Center Göttingen, Göttingen, Germany. 20Department of Pediatric Cardiology, University of Heidelberg, Heidelberg, Germany. 21Pediatric Neurology, University of Heidelberg, Heidelberg, Germany. 22Clinical Trials Unit of the Medical Center, University of Freiburg, Freiburg, Germany. 23Institute of Neuropathology, Erlangen University Hospital, Erlangen, Germany. Keywords: ACE-inhibitors; Cardiomyopathy; Duchenne muscular dystrophy; ß-blockers PMID: 31077250 DOI: 10.1186/s13023-019-1066-9
JACC Basic Transl Sci. 2019 Apr 29;4(2):275-287. doi: 10.1016/j.jacbts.2019.01.009. eCollection 2019 Apr. Cardiac Muscle Membrane Stabilization in Myocardial Reperfusion Injury. Houang EM1, Bartos J2, Hackel BJ3, Lodge TP3,4, Yannopoulos D2, Bates FS3, Metzger JM1. 1Department of Integrative Biology and Physiology, University of Minnesota Medical School, Minneapolis, Minnesota. 2Department of Medicine-Cardiovascular Division, University of Minnesota Medical School, Minneapolis, Minnesota. 3Department of Chemical Engineering and Materials Science, University of Minnesota, Minneapolis, Minnesota. 4Department of Chemistry, University of Minnesota, Minneapolis, Minnesota. Keywords: copolymer; heart; ischemia; reperfusion PMID: 31061929 PMCID: PMC6488758 DOI: 10.1016/j.jacbts.2019.01.009
JCI Insight. 2019 Apr 30;5. pii: 123855. doi: 10.1172/jci.insight.123855. Stabilization of the cardiac sarcolemma by sarcospan rescues DMD-associated cardiomyopathy. Parvatiyar MS, Brownstein AJ, Kanashiro-Takeuchi RM, Collado JR, Dieseldorff Jones KM, Gopal J, Hammond KG, Marshall JL, Ferrel A, Beedle AM, Chamberlain JS, Pinto JR, Crosbie RH. Keywords: Cardiology; Fibrosis; Gene therapy; Muscle Biology; Skeletal muscle PMID: 31039133 DOI: 10.1172/jci.insight.123855
J Cardiol. 2019 May 3. pii: S0914-5087(19)30101-7. doi: 10.1016/j.jjcc.2019.03.019. [Epub ahead of print] Characteristics of ventricular tachycardia and long-term treatment outcome in patients with dilated cardiomyopathy complicated by lamin A/C gene mutations. Hasebe Y1, Fukuda K1, Nakano M2, Kumagai K3, Karibe A4, Fujishima F5, Satake H1, Kondo M1, Wakayama Y1, Shimokawa H1. 1Department of Cardiovascular Medicine, Tohoku University Graduate School of Medicine, Sendai, Japan. 2Department of Cardiovascular Medicine, Tohoku University Graduate School of Medicine, Sendai, Japan. Electronic address: [email protected]. 3Division of Cardiology, Gunma Prefectural Cardiovascular Center, Maebashi, Japan. 4Office for Clinical Research, National Hospital Organization Sendai Nishitaga National Hospital, Sendai, Japan. 5Department of Pathology, Tohoku University Graduate School of Medicine, Sendai, Japan. Keywords: Catheter ablation; Dilated cardiomyopathy; Lamin A/C; Ventricular tachycardia PMID: 31060954 DOI: 10.1016/j.jjcc.2019.03.019
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Wiad Lek. 2019;72(4):682-684. Experience in treatment of patients with esophageal achalasia. Shaprynskyi VO1, Kanikovskyi OY1, Shaprynskyi YV1, Karyi YV1. 1Department Of Surgery, Medical Faculty No 2, National Pirogov Memorial Medical University, Vinnytsya, Ukraine. Keywords: cardiodilatation ; esophageal achalasia ; surgical treatment PMID: 31055556
Douleur – Pain J Pediatr Intensive Care. 2018 Jun;7(2):75-80. doi: 10.1055/s-0037-1605369. Epub 2017 Aug 11. Impact of the Regional Pediatric Palliative Care Network on the Care of Children on Long-Term Ventilation: Could the Availability of a Residential Solution into the Network Reduce the Duration of Intensive Care Unit Staying for These Patients? Rusalen F1, Agosto C1, Brugnaro L2, Benini F1. 1Pediatric Palliative Care and Pain Service, Pediatric Hospice, Department of Woman and Child's Health, University of Padua, Padua, Italy. 2Department of Education and Training, University Hospital Padua, Padua, Italy. Keywords: Pediatric Palliative Care; intensive care; life-limiting disease; long-term ventilation; mechanical ventilation PMID: 31073474 PMCID: PMC6260342 [Available on 2019-06-01] DOI: 10.1055/s-0037-1605369
Gastroentérologie / Nutrition – Gastroenterology / Nutrition Nutr Clin Pract. 2019 May 10. doi: 10.1002/ncp.10312. [Epub ahead of print] Spontaneous Restoration of Nutrition Autonomy in a Case of Intestinal Failure Secondary to a Gastrointestinal Neuromuscular Disease. McCulloch A1, Malhi H2, Parkinson S2, Martin JE3, Cooper SC1,2. 1Department of Gastroenterology, University Hospitals Birmingham NHS Foundation Trust, Birmingham, United Kingdom. 2Nutrition Support Team, Queen Elizabeth Hospital Birmingham, University Hospitals Birmingham NHS Foundation Trust, Edgbaston, Birmingham, United Kingdom. 3Blizard Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, United Kingdom. Keywords: enteric dysmotility; gastrointestinal neuromuscular disease; parenteral nutrition; polyglucosan body myopathy PMID: 31074888 DOI: 10.1002/ncp.10312
Obes Surg. 2019 May 3. doi: 10.1007/s11695-019-03913-5. [Epub ahead of print] A Case Report of Myotonic Disease and Gastric Bypass and a Literature Review. Gohier H1, Cintas P2, Montastier E1, Bertrand M1, Tuyeras G3, Chalret du Rieu M3, Estrade A1, Ritz P4,5. 1Nutrition Department, CIO and CHU, Toulouse, France. 2Neurology Department, CHU, Toulouse, France. 3Surgery Department, CIO and CHU, Toulouse, France. 4Nutrition Department, CIO and CHU, Toulouse, France. [email protected]. 5Inserm U1027, University Paul Sabatier, Toulouse, France. [email protected]. Keywords: Gastric bypass; Myotonic disease PMID: 31054108 DOI: 10.1007/s11695-019-03913-5
Médecine physique et de réadaptation – Physical and rehabilitation medicine Physiother Theory Pract. 2019 May 3:1-8. doi: 10.1080/09593985.2019.1603257. [Epub ahead of print] Physical function and performance measures of children and adolescents with Charcot-Marie-Tooth disease. Baptista CR1, Nascimento-Elias AH1, Garcia B1, Testa A1, Domingues PC1, Martinez EZ2, Marques W Jr3, Mattiello-Sverzut AC1. 1a Department of Health Sciences , Ribeirão Preto Medical School - University of São Paulo , São Paulo , Ribeirão Preto , Brazil. 2b Department of Social Medicine , Ribeirão Preto Medical School, University of São Paulo (USP) , Brazil. 3c Department of Neurosciences and Neurobehavioral Sciences , Ribeirão Preto Medical School, University of São Paulo (USP) , Brazil. Keywords: Foot Posture Index; Neuropathy; adolescent; children; muscle strength; rehabilitation PMID: 31046526 DOI: 10.1080/09593985.2019.1603257
Neurosciences (Riyadh). 2019 Apr;24(2):95-100. doi: 10.17712/nsj.2019.2.20180024.
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Expiratory muscle strength as a predictor of functional exercise capacity in generalized myasthenia gravis. Calik-Kutukcu E1, Salci Y, Karanfil E, Fil-Balkan A, Bekircan-Kurt CE, Armutlu K. 1Department of Physiotherapy and Rehabilitation, Faculty of Health Sciences, Hacettepe University, Ankara, Turkey. E- mail: [email protected]. PMID: 31056540 DOI: 10.17712/nsj.2019.2.20180024
Curr Rheumatol Rep. 2019 May 9;21(6):27. doi: 10.1007/s11926-019-0823-z. Myalgic Encephalomyelitis, Chronic Fatigue Syndrome, and Chronic Fatigue: Three Distinct Entities Requiring Complete Different Approaches. Twisk FNM1. 1ME-de-patiënten Foundation, Zonnedauw 15, 1906 HB, Limmen, The Netherlands. [email protected]. Keywords: Biopsychosocial; Chronic fatigue syndrome; Diagnosis; Myalgic encephalomyelitis; Neuromuscular disease; Therapies PMID: 31073713 DOI: 10.1007/s11926-019-0823-z
Ophtalmologie – Ophthalmology Am J Ophthalmol. 2019 May 8. pii: S0002-9394(19)30197-7. doi: 10.1016/j.ajo.2019.04.017. [Epub ahead of print] Incidence, Epidemiology, and Transformation of Ocular Myasthenia Gravis: A Population Based Study. Hendricks TM1, Bhatti MT2, Hodge DO3, Chen JJ4. 1Mayo Clinic Alix School of Medicine, Mayo Clinic, Rochester, MN. 2Department of Ophthalmology, Mayo Clinic, Rochester, MN; Department of Neurology, Mayo Clinic, Rochester, MN. 3Department of Health Sciences Research, Mayo Clinic, Jacksonville, FL. 4Department of Ophthalmology, Mayo Clinic, Rochester, MN; Department of Neurology, Mayo Clinic, Rochester, MN. Electronic address: [email protected]. Keywords: REP; Rochester Epidemiology Project; epidemiology; incidence; myasthenia gravis; ocular; ocular myasthenia PMID: 31077669 DOI: 10.1016/j.ajo.2019.04.017 Similar articlesRemove from clipboard
Pneumologie – Pulmonogy J Pediatr Intensive Care. 2018 Sep;7(3):159-162. doi: 10.1055/s-0037-1617434. Epub 2018 Jan 4. Distal Spinal Muscular Atrophy: An Overlooked Etiology of Weaning Failure in Children with Respiratory Insufficiency. Habibi Zoham M1, Eghbalkhah A1, Kamrani K2, Khosroshahi N3, Yousefimanesh H1, Eskandarizadeh Z1. 1Department of Pediatric Intensive Care Unit, Bahrami Children's Hospital, Tehran University of Medical Sciences, Tehran, Islamic Republic of Iran. 2Department of Neonatal Intensive Care Unit, Bahrami Children's Hospital, Tehran University of Medical Sciences, Tehran, Islamic Republic of Iran. 3Department of Pediatric Neurology, Bahrami Children's Hospital, Tehran University of Medical Sciences, Tehran, Islamic Republic of Iran. Keywords: diaphragmatic paralysis; respiratory insufficiency; spinal muscular atrophy PMID: 31073488 PMCID: PMC6260352 [Available on 2019-09-01] DOI: 10.1055/s-0037-1617434
Neuromuscul Disord. 2019 Mar 14. pii: S0960-8966(18)31222-7. [Epub ahead of print] Thoracic circumference: A new outcome measure in spinal muscular atrophy type 1? Ropars J1, Barnerias C2, Hully M2, Chabalier D2, Peudenier S3, Barzic A3, Cros P3, Desguerre I2. 1Service de pédiatrie, CHRU de Brest, 2 Avenue Foch, 29609 Brest, France; Laboratoire de Traitement de l'Information Médicale INSERM U1101, Brest, France. Electronic address: [email protected]. 2Hôpital Necker Enfants Malades, APHP, Paris. 3Service de pédiatrie, CHRU de Brest, 2 Avenue Foch, 29609 Brest, France. Keywords: Disease progression; Neuromuscular disorder; Outcome measure; Respiratory function; Spinal muscular atrophy PMID: 31040038 DOI: 10.1016/j.nmd.2019.03.003
J Neurol Sci. 2019 Apr 17;401:125-126. doi: 10.1016/j.jns.2019.04.020. [Epub ahead of print] Myotonic Dystrophy type 1, individualised respiratory care rather than standart prognostication. Yetimakman AF1, Bayrakçı B2, Esquinas AM3. 1Hacettepe University, Department of Pediatric Intensive Care Medicine, Ankara, Turkey. Electronic address: [email protected].
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2Hacettepe University, Department of Pediatric Intensive Care Medicine, Ankara, Turkey. 3Intensive Care Unit, Hospital Morales Meseguer, Murcia, Spain. Keywords: Hypercapnic ventilator response; Myotonic Dystrophy type 1; Noninvasive ventilation; Pulmonary function PMID: 31077949 DOI: 10.1016/j.jns.2019.04.020
Medicine (Baltimore). 2019 May;98(18):e15321. doi: 10.1097/MD.0000000000015321. Clinical implication of maximal voluntary ventilation in myotonic muscular dystrophy. Suh MR1,2,3,4, Kim DH5, Jung J6, Kim B6,7, Lee JW3,8, Choi WA3,6, Kang SW3,6. 1Department of Rehabilitation Medicine, CHA Bundang Medical Center, CHA University School of Medicine, GyeongGi-do. 2Rehabilitation and Regeneration Research Center, CHA University School of Medicine, GyeongGi-do. 3Rehabilitation Institute of Neuromuscular Disease, Yonsei University College of Medicine, Seoul. 4The Graduate School, Yonsei University College of Medicine, Seoul. 5Department of Physical Medicine and Rehabilitation, Kangdong Sacred Heart Hospital, Hallym University College of Medicine, Seoul. 6Department of Rehabilitation Medicine and Pulmonary Rehabilitation Center, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul. 7Department of Physical Therapy, Graduate School of Yonsei University, Gangwon-do. 8Department of Physical Medicine and Rehabilitation, National Health Insurance Service Ilsan Hospital, Goyang, Korea. PMID: 31045770 DOI: 10.1097/MD.0000000000015321 [Indexed for MEDLINE]
Neurosciences (Riyadh). 2019 Apr;24(2):95-100. doi: 10.17712/nsj.2019.2.20180024. Expiratory muscle strength as a predictor of functional exercise capacity in generalized myasthenia gravis. Calik-Kutukcu E1, Salci Y, Karanfil E, Fil-Balkan A, Bekircan-Kurt CE, Armutlu K. 1Department of Physiotherapy and Rehabilitation, Faculty of Health Sciences, Hacettepe University, Ankara, Turkey. E- mail: [email protected]. PMID: 31056540 DOI: 10.17712/nsj.2019.2.20180024
Paediatr Respir Rev. 2019 Apr 5. pii: S1526-0542(19)30031-4. [Epub ahead of print] Transition of patients with neuromuscular disease and chronic ventilator-dependent respiratory failure from pediatric to adult pulmonary care. Cheng PC1, Panitch HB2, Hansen-Flaschen J3. 1Division of Pulmonary Medicine, Children's Hospital of Philadelphia, Philadelphia, PA, United States. Electronic address: [email protected]. 2Division of Pulmonary Medicine, Children's Hospital of Philadelphia, Philadelphia, PA, United States. 3Division of Pulmonary, Allergy, & Critical Care, Hospital of the University of Pennsylvania, Philadelphia, PA, United States. Keywords: Mechanical ventilation; Noninvasive ventilation; Tracheostomy; Transition medicine PMID: 31053356 DOI: 10.1016/j.prrv.2019.03.005
Int J Rheum Dis. 2019 May 2. doi: 10.1111/1756-185X.13593. [Epub ahead of print] Two cases with autoantibodies to small ubiquitin-like modifier activating enzyme: A potential unique subset of dermatomyositis-associated interstitial lung disease. Gono T1, Tanino Y2, Nishikawa A1, Kawamata T2, Hirai K2, Okazaki Y1, Shibata Y2, Kuwana M1. 1Department of Allergy and Rheumatology, Nippon Medical School, Graduate School of Medicine, Tokyo, Japan. 2Department of Pulmonary Medicine, Fukushima Medical University School of Medicine, Fukushima, Japan. Keywords: anti-small ubiquitin-like modifier activating enzyme antibody; dermatomyositis; human leukocyte antigen; interstitial lung disease PMID: 31050194 DOI: 10.1111/1756-185X.13593
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