Bibliographie sur les maladies neuromusculaires

Bibliography of neuromuscular disorders n° 2020-01-1 du 1 au 6 janvier 2020 (January 1 to 6, 2020)

AFM-Téléthon (Service Documentation) – 07/01/2020 1/16

Publiée tous les 15 jours par le service de documentation de l'AFM-Téléthon, la « Veille Neuromusculaire » contient les dernières références intégrées dans Pubmed. La liste des pathologies concernées par cette veille est issue des Fiches Techniques Savoir & Comprendre publiées par l'AFM-Téléthon intitulées « Principales maladies neuromusculaires » (Novembre 2017) et « Recherche Neuromusculaire : Etat des lieux, 6ème Edition » (Septembre 2018). Vous trouverez les veilles précédentes sur notre portail documentaire dédié aux maladies neuromusculaires Myobase Every two weeks, the AFM documentation service publishes the “Neuromuscular Bibliography” in which you will find latest references published in Pubmed. The list of diseases below comes from both resources: « Principales maladies neuromusculaires » (November 2017) and « Recherche Neuromusculaire : Etat des lieux, 6ème Edition » (September 2018) published by AFM-Téléthon in Fiches Techniques Savoir & Comprendre Serie. Previous reports are available on Myobase, the informations tool about neuromuscular diseases.

Sommaire par maladies / diseases

Amyotrophie spinale proximale liée à SMN1 – SMN1-related spinal muscular atrophy (SMA) .............. 2 Dystrophies musculaires d’Emery-Dreifuss – Emery-Dreifuss muscular dystrophies ........................... 2 Dystrophinopathies, dystrophie musculaire de Duchenne, dystrophie musculaire de Becker – Dystrophinopathies ......................................................................................................................................... 3 Dystrophies musculaires des ceintures – Limb-girdle muscular dystrophies ......................................... 5 Dystrophies myotoniques – Myotonic dystrophies ..................................................................................... 5 Fibrodysplasie ossifiante progressive (FOP) – Fibrodysplasia ossificans progressiva ......................... 6 Maladie de Charcot-Marie-Tooth – Charcot-Marie-Tooth disease .............................................................. 6 Myasthénie autoimmune – Myasthenia gravis ............................................................................................. 7 Myopathies congénitales – Congenital myopathies .................................................................................... 9 Myopathies inflammatoires – Inflammatory myopathies ............................................................................ 9 Maladie de Pompe – Pompe disease ........................................................................................................... 11 Myopathies mitochondriales – Mitochondrial myopathies ....................................................................... 11 Syndromes myasthéniques congénitaux – Congenital myasthenic syndrome ..................................... 12 Maladies neuromusculaires (plusieurs pathologies) – Neuromuscular diseases (Multiple) ................. 12

Sommaire par spécialités / specialties Cardiologie – Cardiology .............................................................................................................................. 14 Myographie – Myography ............................................................................................................................. 14 Gastroentérologie / Nutrition – Gastroenterology / Nutrition ................................................................... 14 Imagerie médicale – Medical imaging ......................................................................................................... 14 Ophtalmologie – Ophthalmology ................................................................................................................. 15 Pneumologie – Pulmonogy .......................................................................................................................... 16

Bibliographie sur les maladies neuromusculaires

Bibliography of neuromuscular disorders n° 2020-01-1 du 1 au 6 janvier 2020 (January 1 to 6, 2020)

AFM-Téléthon (Service Documentation) – 07/01/2020 2/16

Amyotrophie spinale proximale liée à SMN1 – SMN1-related spinal muscular atrophy (SMA) 1. Bioorg Med Chem. 2019 Dec 18:115239. doi: 10.1016/j.bmc.2019.115239. [Epub ahead of print]

Expanding therapeutic opportunities for neurodegenerative diseases: A perspective on the important role of phenotypic screening. Swalley SE1. 1Biogen, Inc., 125 Broadway Street, Cambridge, MA 02139, United States. Electronic address: susanne.swalley@biogen.com. KEYWORDS: Drug discovery; Neurodegenerative disease; Phenotypic screening; SMA; Spinal muscular atrophy PMID: 31889605 DOI:10.1016/j.bmc.2019.115239

2. Brain Dev. 2019 Dec 28. pii: S0387-7604(19)30714-4. doi: 10.1016/j.braindev.2019.12.006. [Epub ahead of print] Intrathecal nusinersen treatment after ventriculo-peritoneal shunt placement: A case report focusing on the neurofilament light chain in cerebrospinal fluid. Tozawa T1, Kasai T2, Tatebe H3, Shiomi K4, Nishio H5, Tokuda T6, Chiyonobu T7. 1Department of Pediatrics, Kyoto Prefectural University of Medicine, Kyoto, Japan. 2Department of Neurology, Kyoto Prefectural University of Medicine, Kyoto, Japan. 3Department of Medical Innovation and Translational Medical Science, Kyoto Prefectural University of Medicine, Kyoto, Japan. 4Department of Pediatrics, Kyoto City Hospital, Kyoto, Japan. 5Department of Occupational Therapy, Faculty of Rehabilitation, Kobe Gakuin University, Kobe, Hyogo, Japan. 6Department of Molecular Pathobiology of Brain Diseases, Kyoto Prefectural University of Medicine, Kyoto, Japan. 7Department of Pediatrics, Kyoto Prefectural University of Medicine, Kyoto, Japan. Electronic address: chiyono@koto.kpu-m.ac.jp. KEYWORDS: Blake’s pouch cyst; Congenital hydrocephalus; Neurofilament; Nusinersen; Spinal muscular atrophy PMID: 31889567 DOI:10.1016/j.braindev.2019.12.006

3. BMC Med Genet. 2019 Dec 30;20(1):204. doi: 10.1186/s12881-019-0935-3. Genomic analysis of a spinal muscular atrophy (SMA) discordant family identifies a novel mutation in TLL2, an activator of growth differentiation factor 8 (myostatin): a case report. Jiang J1,2, Huang J3, Gu J1,2,4, Cai X4, Zhao H5,6, Lu H7,8. 1Department of Bioinformatics and Biostatistics, SJTU-Yale Joint Center for Biostatistics, College of Life Science and Biotechnology, Shanghai Jiao Tong University, 800 Dongchuan Road, Minhang District, Shanghai, China. 2Department of Biostatistics, Yale School of Public Health, 300 George Street, New Haven, CT, USA. 3Department of Respiration and Critical Care Medicine, The Sixth Affiliated Hospital of Wenzhou Medical University, Lishui, China. 4Center for Biomedical Informatics, Shanghai Children's Hospital, Shanghai, China. 5Department of Bioinformatics and Biostatistics, SJTU-Yale Joint Center for Biostatistics, College of Life Science and Biotechnology, Shanghai Jiao Tong University, 800 Dongchuan Road, Minhang District, Shanghai, China. hongyu.zhao@yale.edu. 6Department of Biostatistics, Yale School of Public Health, 300 George Street, New Haven, CT, USA. hongyu.zhao@yale.edu. 7Department of Bioinformatics and Biostatistics, SJTU-Yale Joint Center for Biostatistics, College of Life Science and Biotechnology, Shanghai Jiao Tong University, 800 Dongchuan Road, Minhang District, Shanghai, China. huilu@sjtu.edu.cn. 8Center for Biomedical Informatics, Shanghai Children's Hospital, Shanghai, China. huilu@sjtu.edu.cn. KEYWORDS: Myostatin; Spinal muscular atrophy; TLL2 gene; Whole exome sequencing PMID: 31888525 PMCID: PMC6938020 DOI:10.1186/s12881-019-0935-3 Free PMC Article

Dystrophies musculaires d’Emery-Dreifuss – Emery-Dreifuss muscular dystrophies 4. JBJS Case Connect. 2020 Jan-Mar;10(1):e0003. doi: 10.2106/JBJS.CC.19.00003.

Restoration of Global Sagittal Alignment After Surgical Correction of Cervical Hyperlordosis in a Patient with Emery-Dreifuss Muscular Dystrophy: A Case Report. Diebo BG1, Shah NV1, Messina JC1, Naziri Q1,2, Post NH3, Riew KD4, Paulino CB1. 1Department of Orthopaedic Surgery and Rehabilitation Medicine, State University of New York (SUNY), Downstate Medical Center, Brooklyn, New York. 2Department of Orthopaedic Surgery, Cleveland Clinic Florida, Weston, Florida. 3Department of Neurosurgery, Brookdale University Hospital Medical Center, Brooklyn, New York.

Bibliographie sur les maladies neuromusculaires

Bibliography of neuromuscular disorders n° 2020-01-1 du 1 au 6 janvier 2020 (January 1 to 6, 2020)

AFM-Téléthon (Service Documentation) – 07/01/2020 3/16

4Department of Orthopaedic Surgery, The Daniel and Jane Och Spine Hospital at New York-Presbyterian, Columbia University Medical Center, New York, New York. PMID: 31899720 DOI:10.2106/JBJS.CC.19.00003 Dystrophinopathies, dystrophie musculaire de Duchenne, dystrophie musculaire de Becker –

Dystrophinopathies 5. Gene Ther. 2020 Jan 3. doi: 10.1038/s41434-019-0119-y. [Epub ahead of print]

Integrating gene delivery and gene-editing technologies by adenoviral vector transfer of optimized CRISPR-Cas9 components. Maggio I1,2, Zittersteijn HA2, Wang Q2, Liu J2, Janssen JM2, Ojeda IT2, van der Maarel SM3, Lankester AC1, Hoeben RC2, Gonçalves MAFV4. 1Department of Pediatrics/Willem-Alexander Kinderziekenhuis (WAKZ), Leiden University Medical Center, Albinusdreef 2, 2300 RC, Leiden, The Netherlands. 2Department of Cell and Chemical Biology (CCB), Leiden University Medical Center, Einthovenweg 20, 2333 ZC, Leiden, The Netherlands. 3Department of Human Genetics, Leiden University Medical Centre, Einthovenweg 20, 2333 ZC, Leiden, The Netherlands. 4Department of Cell and Chemical Biology (CCB), Leiden University Medical Center, Einthovenweg 20, 2333 ZC, Leiden, The Netherlands. M.F.V.Goncalves@lumc.nl. PMID: 31900423 DOI:10.1038/s41434-019-0119-y

6. Eur J Hum Genet. 2020 Jan 2. doi: 10.1038/s41431-019-0563-6. [Epub ahead of print] TCTEX1D1 is a genetic modifier of disease progression in Duchenne muscular dystrophy. Spitali P1, Zaharieva I2, Bohringer S3, Hiller M4, Chaouch A5,6, Roos A5, Scotton C7, Claustres M8, Bello L9,10, McDonald CM11, Hoffman EP9; CINRG Investigators, Koeks Z12, Eka Suchiman H13, Cirak S14,15,16, Scoto M14, Reza M5, 't Hoen PAC4, Niks EH12, Tuffery-Giraud S8, Lochmüller H5,17,18, Ferlini A7, Muntoni F14,19, Aartsma-Rus A4,5. Collaborators (38) 1Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands. p.spitali@lumc.nl. 2Dubowitz Neuromuscular Centre, University College London Great Ormond Street Institute of Child Health, London, UK. i.zaharieva@ucl.ac.uk. 3Department of Medical Statistics, Leiden University Medical Center, Leiden, The Netherlands. 4Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands. 5John Walton Muscular Dystrophy Research Centre, Newcastle University, Newcastle upon Tyne, UK. 6Greater Manchester Neuroscience Centre, Salford Royal Foundation Trust, Salford, UK. 7Department of Medical Sciences, Section of Microbiology and Medical Genetics, University of Ferrara, Ferrara, Italy. 8Laboratory of Genetics of Rare Diseases (LGMR - EA7402), University of Montpellier, Montpellier, France. 9Center for Genetic Medicine Research, Children's National Medical Center, Washington, DC, USA. 10Department of Neuroscience, University of Padova, Padova, Italy. 11University of California Davis Medical Center, Sacramento, CA, USA. 12Department of Neurology, Leiden University Medical Center, Leiden, The Netherlands. 13Department of Molecular Epidemiology, Leiden University Medical Center, Leiden, The Netherlands. 14Dubowitz Neuromuscular Centre, University College London Great Ormond Street Institute of Child Health, London, UK. 15Department of Pediatrics, University Hospital Cologne, Cologne, Germany. 16Center for Molecular Medicine Cologne (CMMC), University of Cologne, Cologne, Germany. 17Division of Neurology, Department of Medicine, The Ottawa Hospital, Ottawa, Canada. 18Brain and Mind Research Institute, University of Ottawa, Ottawa, Canada. 19National Institute for Health Research, Great Ormond Street Institute of Child Health Biomedical Research Centre, University College London, London, UK. PMID: 31896777 DOI:10.1038/s41431-019-0563-6

7. Neurology. 2019 Dec 31. pii: 10.1212/WNL.0000000000008811. [Epub ahead of print] Muscle MRI: A biomarker of disease severity in Duchenne muscular dystrophy? A systematic review. Ropars J1, Gravot F2, Ben Salem D2, Rousseau F2, Brochard S2, Pons C2. 1From the Department of Pediatrics (J.R., F.G.), CHU Brest, Brest, France; Neuromuscular Center (J.R., S.B., C.P), Brest, France; Laboratoire du Traitement de l'Information Médicale (J.R., D.B.S., F.R, S.B., C.P.), LaTIM INSERM UMR1101, Brest, France; Department of Radiology (D.B.S.), CHU Brest, Brest, France; Institut Mines Télécom Atlantiques (F.R), Brest, France; and Department of Pediatric Physical and Medical Rehabilitation (S.B., C.P.), Fondation ILDYS, Brest, France. ju.ropars@gmail.com. 2From the Department of Pediatrics (J.R., F.G.), CHU Brest, Brest, France; Neuromuscular Center (J.R., S.B., C.P), Brest, France; Laboratoire du Traitement de l'Information Médicale (J.R., D.B.S., F.R, S.B., C.P.), LaTIM INSERM UMR1101, Brest, France; Department of Radiology (D.B.S.), CHU Brest, Brest, France; Institut Mines Télécom Atlantiques (F.R),

Bibliographie sur les maladies neuromusculaires

Bibliography of neuromuscular disorders n° 2020-01-1 du 1 au 6 janvier 2020 (January 1 to 6, 2020)

AFM-Téléthon (Service Documentation) – 07/01/2020 4/16

Brest, France; and Department of Pediatric Physical and Medical Rehabilitation (S.B., C.P.), Fondation ILDYS, Brest, France. PMID: 31892637 DOI:10.1212/WNL.0000000000008811

8. Mol Ther Methods Clin Dev. 2019 Oct 21;15:305-319. eCollection 2019 Dec 13. rAAVrh74.MCK.GALGT2 Demonstrates Safety and Widespread Muscle Glycosylation after Intravenous Delivery in C57BL/6J Mice. Zygmunt DA1, Xu R1, Jia Y1, Ashbrook A1,2, Menke C2, Shao G1, Yoon JH1, Hamilton S1, Pisharath H3, Bolon B4, Martin PT1,5. 1Center for Gene Therapy, Abigail Wexner Research Institute at Nationwide Children's Hospital, 700 Children's Drive, Columbus, OH, USA. 2Animal Resources Core, Abigail Wexner Research Institute at Nationwide Children's Hospital, Columbus, OH, USA. 3Animal Resource Center and Department of Pathology, St. Jude Children's Research Hospital, Memphis, TN, USA. 4GEMpath, Longmont, CO, USA. 5Department of Pediatrics, The Ohio State University, Columbus, OH, USA. KEYWORDS: AAV; Duchenne muscular dystrophy; GalNAc; dystroglycan; gene therapy PMID: 31890730 PMCID:PMC6923506 DOI:10.1016/j.omtm.2019.10.005

9. BMC Proc. 2019 Dec 16;13(Suppl 11):21. doi: 10.1186/s12919-019-0179-4. eCollection 2019. Use of air stacking to improve pulmonary function in Indonesian Duchenne muscular dystrophy patients: bridging the standard of care gap in low middle income country setting. Iskandar K1,2, Sunartini1,2,3, Nugrahanto AP2, Ilma N2, Kalim AS2, Adistyawan G4, Siswanto5, Naning R3. 1Department of Child Health/Genetics Working Group, Faculty of Medicine, Public Health and Nursing/UGM Academic Hospital, Universitas Gadjah Mada, Jl. Kabupaten (Lingkar Utara), Kronggahan, Trihanggo, Gamping, Sleman, Yogyakarta, 55291 Indonesia. 2Genetics Working Group, Faculty of Medicine, Public Health and Nursing, Universitas Gadjah Mada, Yogyakarta, Indonesia. 3Department of Child Health, Faculty of Medicine, Public Health and Nursing, Dr. Sardjito Hospital, Universitas Gadjah Mada, Yogyakarta, Indonesia. 4Department of Rehabilitation and Physical Medicine, UGM Academic Hospital, Yogyakarta, Indonesia. 5Department of Pulmonology and Respiratory Medicine, UGM Academic Hospital, Yogyakarta, Indonesia. KEYWORDS: Duchenne muscular dystrophy; Respiratory devices; Respiratory function PMID: 31890014 PMCID:PMC6912939 DOI:10.1186/s12919-019-0179-4

10. Int J Pediatr Endocrinol. 2019;2019:4. doi: 10.1186/s13633-019-0070-0. Epub 2019 Dec 23. The role of delayed bone age in the evaluation of stature and bone health in glucocorticoid treated patients with Duchenne muscular dystrophy. Annexstad EJ1,2,3,4, Bollerslev J5,2, Westvik J6, Myhre AG7, Godang K5, Holm I2,8, Rasmussen M1,3. 1Department of Neurology, Unit for Congenital and Inherited Neuromuscular Disorders, Oslo University Hospital, PoBox 4950, Nydalen, 0424 Oslo, Norway. 2Faculty of Medicine, University of Oslo, Oslo, Norway. 3Department of Clinical Neurosciences for Children, Oslo University Hospital, Oslo, Norway. 4Children's Department, Ostfold Hospital Trust, Sarpsborg, Norway. 5Department of Endocrinology, Section of Specialized Endocrinology, Oslo University Hospital Rikshospitalet, Oslo, Norway. 5Department of Radiology, Section for Paediatric Radiology, Oslo University Hospital Rikshospitalet, Oslo, Norway. 7Frambu Resource Centre for Rare Disorders, Siggerud, Norway. 8Division of Orthopaedic Surgery, Oslo University Hospital, Oslo, Norway. KEYWORDS: Bone age; Bone mineral density; Duchenne muscular dystrophy; Glucocorticoid; Pubertal delay; Short stature PMID: 31889957 PMCID:PMC6927168 DOI:10.1186/s13633-019-0070-0

Bibliographie sur les maladies neuromusculaires

Bibliography of neuromuscular disorders n° 2020-01-1 du 1 au 6 janvier 2020 (January 1 to 6, 2020)

AFM-Téléthon (Service Documentation) – 07/01/2020 5/16

Dystrophies musculaires des ceintures – Limb-girdle muscular dystrophies 11. Acta Neuropathol. 2020 Jan 3. doi: 10.1007/s00401-019-02117-6. [Epub ahead of print]

POGLUT1 biallelic mutations cause myopathy with reduced satellite cells, α-dystroglycan hypoglycosylation and a distinctive radiological pattern. Servián-Morilla E1,2, Cabrera-Serrano M1,2, Johnson K3,4, Pandey A5, Ito A6, Rivas E2,7, Chamova T8, Muelas N9, Mongini T10, Nafissi S11, Claeys KG12,13, Grewal RP14, Takeuchi M6, Hao H6, Bönnemann C15, Lopes Abath Neto O15, Medne L16, Brandsema J16, Töpf A3, Taneva A8, Vilchez JJ9, Tournev I8,17, Haltiwanger RS6, Takeuchi H18, Jafar-Nejad H5, Straub V3, Paradas C19,20. 1Neuromuscular Disorders Unit, Department of Neurology, Instituto de Biomedicina de Sevilla, Hospital U. Virgen del Rocío/CSIC/Universidad de Sevilla, Sevilla, Spain. 2Centro de Investigación Biomédica en Red Sobre Enfermedades Neurodegenerativas (CIBERNED), Madrid, Spain. 3The John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, NE1 3BZ, UK. 4Institute of Cellular Medicine, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK. 5Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA. 6Complex Carbohydrate Research Center, University of Georgia, Athens, GA, 30602, USA. 7Department of Neuropathology, Hospital U. Virgen del Rocío/Instituto de Biomedicina de Sevilla (IBiS), Sevilla, Spain. 8Department of Neurology, Clinic of Nervous Diseases, University Hospital "Alexandrovska", Medical University Sofia, Sofia, Bulgaria. 9Neuromuscular Disorders Unit, Department of Neurology and IIS La Fe, Hospital UiP La Fe, Centro de Investigación Biomédica en Red Sobre Enfermedades Raras (CIBERER), Valencia, Spain. 10Neuromuscular Unit, Department of Neuroscience "Rita Levi Montalcini", University of Torino, Torino, Italy. 11Department of Neurology, Shariati Hospital, Tehran University of Medical Sciences, Tehran, Iran. 12Department of Neurology, University Hospitals Leuven, Leuven, Belgium. 13Laboratory for Muscle Diseases and Neuropathies, Department of Neurosciences, KU Leuven, Leuven, Belgium. 14Department of Neuroscience, School of Health and Medical Sciences, Seton Hall University/Saint Francis Medical Center, Trenton, NJ, USA. 15Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD, USA. 16Divisions of Neurology and Human Genetics of Genomic Medicine, Children's Hospital of Philadelphia, Philadelphia, USA. 17Department of Cognitive Science and Psychology, New Bulgarian University, Sofia, Bulgaria. 18Department of Molecular Biochemistry, Nagoya University Graduate School of Medicine, Nagoya, Aichi, 466-8550, Japan. 19Neuromuscular Disorders Unit, Department of Neurology, Instituto de Biomedicina de Sevilla, Hospital U. Virgen del Rocío/CSIC/Universidad de Sevilla, Sevilla, Spain. cparadas@us.es. 20Centro de Investigación Biomédica en Red Sobre Enfermedades Neurodegenerativas (CIBERNED), Madrid, Spain. cparadas@us.es. KEYWORDS: Muscle dystrophy; Notch; POGLUT1; Satellite cells; α-Dystroglycan PMID: 31897643 DOI:10.1007/s00401-019-02117-6

12. Mol Ther Methods Clin Dev. 2019 Oct 14;15:294-304. eCollection 2019 Dec 13. Plasmid-Mediated Gene Therapy in Mouse Models of Limb Girdle Muscular Dystrophy. Guha TK1, Pichavant C1, Calos MP1. 1Department of Genetics, Stanford University School of Medicine, Stanford, CA 94305-5120, USA. KEYWORDS: alpha-sarcoglycan; calpain3; dysferlin; electroporation; follistatin; limb girdle muscular dystrophy; non-viral gene therapy; plasmid DNA PMID: 31890729 PMCID:PMC6923511 DOI:10.1016/j.omtm.2019.10.002

Dystrophies myotoniques – Myotonic dystrophies 13. Neurologia. 2019 Dec 30. pii: S0213-4853(19)30128-8. doi: 10.1016/j.nrl.2019.10.004. [Epub ahead of print]

Eye involvement in patients with myotonic dystrophy. [Article in English, Spanish] Vitiello L1, Politano L2, De Bernardo M3, Rosa N1. 1Departamento de Medicina, Cirugía y Odontología, Scuola Medica Salernitana, Universidad de Salerno, Salerno, Italia. 2Cardiomiología y Genética Médica, Departamento de Medicina Experimental, Universidad de Campania «Luigi Vanvitelli», Nápoles, Italia. 3Departamento de Medicina, Cirugía y Odontología, Scuola Medica Salernitana, Universidad de Salerno, Salerno, Italia. Electronic address: mdebernardo@unisa.it. PMID: 31899010 DOI:10.1016/j.nrl.2019.10.004

Bibliographie sur les maladies neuromusculaires

Bibliography of neuromuscular disorders n° 2020-01-1 du 1 au 6 janvier 2020 (January 1 to 6, 2020)

AFM-Téléthon (Service Documentation) – 07/01/2020 6/16

14. Acta Neurol Scand. 2019 Dec 30. doi: 10.1111/ane.13215. [Epub ahead of print] Activities of daily living in myotonic dystrophy type 1. Landfeldt E1, Nikolenko N2,3, Jimenez-Moreno C2, Cumming S4, Monckton DG4, Faber CG5, Merkies ISJ5,6, Gorman G7, Turner C3,8, Lochmüller H9,10. 1Department of Learning, Informatics, Management and Ethics, Karolinska Institutet, Stockholm, Sweden. 2John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK. 3National Hospital for Neurology and Neurosurgery, Queen Square, University College London Hospitals NHS Foundation Trust, London, UK. 4Institute of Molecular, Cell and Systems Biology, College of Medical, Veterinary and Life Sciences, University of Glasgow, Glasgow, UK. 5Department of Neurology, School of Mental Health and Neuroscience, Maastricht University Medical Center, Maastricht, The Netherlands. 6Department of Neurology, St. Elisabeth Hospital, Willemstad, Curaçao. 7Wellcome Trust Centre for Mitochondrial Research, Institute of Neuroscience, University of Newcastle, Newcastle, UK. 8Queen Square Department of Neuromuscular Disease, University College London, London, UK. 9Department of Neuropediatrics and Muscle Disorders, Medical Centre, University of Freiburg, Faculty of Medicine, Freiburg, Germany. 10Children's Hospital of Eastern Ontario Research Institute, Division of Neurology, Department of Medicine, The Ottawa Hospital; and Brain and Mind Research Institute, University of Ottawa, Ottawa, Canada. KEYWORDS: Activities of Daily Living; Quality of life; Social Participation PMID: 31889295 DOI:10.1111/ane.13215

Fibrodysplasie ossifiante progressive (FOP) – Fibrodysplasia ossificans progressiva 15. Orphanet J Rare Dis. 2019 Dec 30;14(1):300. doi: 10.1186/s13023-019-1222-2.

The evolving therapeutic landscape of genetic skeletal disorders. Sabir AH1, Cole T2. 1West Midlands Clinical Genetics Unit, Birmingham Women's and Children's NHS FT and Birmingham Health Partners, Birmingham, UK. ataf.sabir2@nhs.net. 2West Midlands Clinical Genetics Unit, Birmingham Women's and Children's NHS FT and Birmingham Health Partners, Birmingham, UK. KEYWORDS: Bone; Dysplasia; Genetic; Hereditary; Personalised; Rare; Skeletal; Targeted; Therapy PMID: 31888683 PMCID:PMC6937740 DOI:10.1186/s13023-019-1222-2

Maladie de Charcot-Marie-Tooth – Charcot-Marie-Tooth disease 16. Neurol Sci. 2020 Jan 4. doi: 10.1007/s10072-019-04219-1. [Epub ahead of print]

Charcot-Marie-Tooth disease: experience from a large Italian tertiary neuromuscular center. Gentile L1, Russo M2, Fabrizi GM3, Taioli F3, Ferrarini M3, Testi S3, Alfonzo A1, Aguennouz M1, Toscano A1, Vita G1, Mazzeo A1. 1Unit of Neurology and Neuromuscular Diseases, Department of Clinical and Experimental Medicine, University of Messina, via Consolare Valeria 1, 98125, Messina, ME, Italy. 2Unit of Neurology and Neuromuscular Diseases, Department of Clinical and Experimental Medicine, University of Messina, via Consolare Valeria 1, 98125, Messina, ME, Italy. russom@unime.it. 3Department of Neurosciences, Biomedicine, and Movement Sciences, University of Verona, Via S. Francesco, 22, 37129, Verona, VR, Italy. KEYWORDS: Charcot-Marie-Tooth; Clinical records; Genetic; Neuropathy; Novel mutations PMID: 31902012 DOI:10.1007/s10072-019-04219-1

17. Muscle Nerve. 2020 Jan 3. doi: 10.1002/mus.26800. [Epub ahead of print] 7T magnetic resonance neurography-ultrasound fusion for peripheral nerve imaging. Schreiber S1,2,3, Schreiber F1,2, Peter A1, Isler E1,2, Dörner M4, Heinze HJ1,2,5,3, Petri S6, Tempelmann C1, Nestor PJ7,8, Grimm A9, Vielhaber S1,2,3. 1Department of Neurology, Otto-von-Guericke University, Leipziger Straße 44, Magdeburg, Germany. 2German Center for Neurodegenerative Diseases (DZNE) within the Helmholtz Association, Leipziger Straße 44, Magdeburg, Germany. 3Center for Behavioral Brain Sciences, Universitätsplatz 2, Magdeburg, Germany. 4Department of Neurodegenerative Diseases & Geropsychiatry, University of Bonn, Sigmund-Freud-Straße 25, Bonn, Germany. 5Leibniz Institute for Neurobiology, Brenneckestraße 6, Magdeburg, Germany.

Bibliographie sur les maladies neuromusculaires

Bibliography of neuromuscular disorders n° 2020-01-1 du 1 au 6 janvier 2020 (January 1 to 6, 2020)

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6Department of Neurology, Hannover Medical School, Carl-Neuberg-Str. 1, Hannover, Germany. 7Queensland Brain Institute, The University of Queensland. 8Mater Hospital, Brisbane. 9Department of Neurology, University Hospital Tuebingen, Hoppe-Seyler-Str. 3, Tuebingen, Germany. KEYWORDS: CMT1A; fusion imaging; magnetic resonance neurography; microvascular blood flow; ultrasound PMID: 31899543 DOI:10.1002/mus.26800

18. Brain Res. 2019 Dec 30:146625. doi: 10.1016/j.brainres.2019.146625. [Epub ahead of print] Are we prepared for clinical trials in Charcot-Marie-Tooth disease? Rossor AM1, Shy ME2, Reilly MM3. 1Department of Neuromuscular Diseases, University College London Queen Square Institute of Neurology, London, United Kingdom. Electronic address: a.rossor@ucl.ac.uk. 2Department of Neurology, University of Iowa, 200 Hawkins Drive, Iowa City, IA 52242, USA. 3Department of Neuromuscular Diseases, University College London Queen Square Institute of Neurology, London, United Kingdom. KEYWORDS: Charcot-Marie-Tooth disease; Clinical trial; Outcome measures PMID: 31899213 DOI:10.1016/j.brainres.2019.146625

Myasthénie autoimmune – Myasthenia gravis 19. Exp Neurobiol. 2019 Dec 31;28(6):720-726. doi: 10.5607/en.2019.28.6.720.

B Cell Immunophenotyping and Transcriptional Profiles of Memory B Cells in Patients with Myasthenia Gravis. Min YG1, Park C2, Kwon YN1,3, Shin JY1, Sung JJ1,2, Hong YH2,3. 1Department of Neurology, Seoul National University Hospital, Seoul 03080, Korea. 2Seoul National University College of Medicine and Neuroscience Research Institute, Seoul National University Medical Research Council, Seoul 03080, Korea. 3Department of Neurology, Seoul Metropolitan Government Seoul National University Boramae Medical Center, Seoul 07061, Korea. KEYWORDS: B-lymphocytes; Biomarkers; Flow cytometry; Myasthenia gravis; Transcriptome PMID: 31902159 DOI:10.5607/en.2019.28.6.720

20. Metabolomics. 2020 Jan 4;16(1):10. doi: 10.1007/s11306-019-1625-z. Metabolomic profile overlap in prototypical autoimmune humoral disease: a comparison of myasthenia gravis and rheumatoid arthritis. Blackmore D1, Li L2, Wang N2, Maksymowych W3, Yacyshyn E4, Siddiqi ZA5. 1Division of Neurology, University of Alberta, 7th Floor, Clinical Sciences Building, 11350 - 83 Ave NW, Edmonton, AB, T6G 2G3, Canada. 2Department of Chemistry, University of Alberta, Chemistry Centre Room W3-39C, Edmonton, AB, T6G 2G2, Canada. 3568A Heritage Medical Research Centre, University of Alberta, Edmonton, AB, T6G 2S2, Canada. 4Division of Rheumatology, University of Alberta, 8-130 Clinical Sciences Building, 11350 - 83 Ave NW, Edmonton, AB, Canada. 5Division of Neurology, University of Alberta, 7th Floor, Clinical Sciences Building, 11350 - 83 Ave NW, Edmonton, AB, T6G 2G3, Canada. zsiddiqi@ualberta.ca. KEYWORDS: Biomarkers; Metabolomics; Molecular medicine; Myasthenia gravis; Neuromuscular disease; Rheumatoid arthritis PMID: 31902059 DOI:10.1007/s11306-019-1625-z

21. J Neurol Sci. 2019 Dec 26;410:116648. doi: 10.1016/j.jns.2019.116648. [Epub ahead of print] Maintenance immunosuppression in myasthenia gravis, an update. Morren J1, Li Y2. 1Neuromuscular Center, Neurological Institute, Cleveland Clinic, Cleveland, OH 44195, USA. 2Neuromuscular Center, Neurological Institute, Cleveland Clinic, Cleveland, OH 44195, USA. Electronic address: liy@ccf.org. KEYWORDS: Corticosteroid; Immunosuppression; Intravenous immunoglobulin; Myasthenia gravis; Non-steroid immunosuppressive agent; Plasmapheresis; Thymectomy PMID: 31901719 DOI:10.1016/j.jns.2019.116648

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22. Neurol Sci. 2020 Jan 3. doi: 10.1007/s10072-019-04146-1. [Epub ahead of print] Hospital and healthcare insurance system record-based epidemiological study of myasthenia gravis in southern and northern China. Fang W1, Li Y2,3, Mo R2, Wang J4, Qiu L2, Ou C2, Lin Z2, Huang Z2, Feng H2, He X5, Wang W4, Xu P6, Wang L7, Ran H8, Liu W9. 1School of Earth and Environmental Sciences, Queens College, City University of New York, Queens, NY, USA. 2Department of Neurology, The First Affiliated Hospital of Sun Yat-sen University, #58 Zhongshan 2nd Road, Guangzhou, 510080, Guangdong, People's Republic of China. 3Department of Neurosurgical Intensive Care Unit, The First Affiliated Hospital of Sun Yat-sen University, Guangzhou, Guangdong, People's Republic of China. 4Department of Neurology, The Second Affiliated Hospital of Harbin Medical University, Harbin, Heilongjiang, People's Republic of China. 5Department of Neurology, Guangdong Neuroscience Institute, Guangdong General Hospital and Guangdong Academy of Medical Sciences, Guangzhou, Guangdong, People's Republic of China. 6Faculty of Geographical Science, Beijing Normal University, Beijing, People's Republic of China. 7Department of Neurology, The Second Affiliated Hospital of Harbin Medical University, Harbin, Heilongjiang, People's Republic of China. wanglh211@163.com. 8School of Pharmaceutical Sciences, Sun Yat-Sen University, Guangzhou, People's Republic of China. Nicolas.ding@yahoo.com. 9Department of Neurology, The First Affiliated Hospital of Sun Yat-sen University, #58 Zhongshan 2nd Road, Guangzhou, 510080, Guangdong, People's Republic of China. neurologymg@163.com. KEYWORDS: Epidemiology; Health insurance systems; Hospital records; Medical costs; Myasthenia gravis; Southern and northern Chinese population PMID: 31897952 DOI:10.1007/s10072-019-04146-1

23. Indian J Psychiatry. 2019 Nov-Dec;61(6):653-654. doi: 10.4103/psychiatry.IndianJPsychiatry_215_19. Successful administration of electroconvulsive therapy in a patient with treatment-resistant schizophrenia and coexisting myasthenia gravis. Sreeraj VS1, Venkataramaiah S2, Sunka A1, Kamath S2, Rao NP1. 1Department of Psychiatry, National Institute of Mental Health and Neurosciences, Bengaluru, Karnataka, India. E-mail: docnaren@gmail.com. 2Department of Neuroanaesthesia and Neurocritical Care, National Institute of Mental Health and Neurosciences, Bengaluru, Karnataka, India. PMID: 31896878 PMCID:PMC6862986 DOI:10.4103/psychiatry.IndianJPsychiatry_215_19

24. Medicine (Baltimore). 2020 Jan;99(1):e18622. doi: 10.1097/MD.0000000000018622. Risk factors of myasthenia crisis after thymectomy among myasthenia gravis patients: A meta-analysis. Geng Y1, Zhang H, Wang Y. 1Department of thoracic surgery, West China Hospital of Sichuan University, Chengdu, China. PMID: 31895819 DOI:10.1097/MD.0000000000018622

25. Intractable Rare Dis Res. 2019 Nov;8(4):231-238. doi: 10.5582/irdr.2019.01121. Quality of life in refractory generalized myasthenia gravis: A rapid review of the literature. Garzón-Orjuela N1, van der Werf L1, Prieto-Pinto LC1, Lasalvia P1,2, Castañeda-Cardona C1, Rosselli D1,2. 1Department of Evidence-Based Medicine, NeuroEconomix, Bogotá, Colombia. 2Clinical Epidemiology and Biostatistics Department, Medical School, Pontificia Universidad Javeriana, Bogotá, Colombia. KEYWORDS: Myasthenia gravis; generalized myasthenia gravis; quality of life; refractory generalized myasthenia gravis PMID: 31890449 PMCID:PMC6929598 DOI:10.5582/irdr.2019.01121

26. Muscle Nerve. 2019 Dec 30. doi: 10.1002/mus.26785. [Epub ahead of print] Plasma exosomal miR-106a-5p expression in myasthenia gravis. Xu H1, Bao Z1, Liang D1, Li M1, Wei M1, Ge X1, Liu J1, Li J1. 1Department of Neurology, the First Affiliated Hospital of Guangxi Medical University, Guangxi, China. KEYWORDS: Myasthenia gravis; PCR; deep sequencing; exosome; microRNA PMID: 31889318 DOI:10.1002/mus.26785

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27. Neurology. 2019 Dec 30. pii: 10.1212/WNL.0000000000008860. [Epub ahead of print]

Myasthenia gravis following dabrafenib and trametinib for metastatic melanoma. Zaloum A1, Falet JR2, Elkrief A2, Chalk C2. 1From the Departments of Neurology and Neurosurgery (A.Z., J.-P.R.F., C.C.) and Oncology (A.E.), McGill University, Montreal, Canada. austin.zaloum@mail.mcgill.ca. 2From the Departments of Neurology and Neurosurgery (A.Z., J.-P.R.F., C.C.) and Oncology (A.E.), McGill University, Montreal, Canada. PMID: 31888971 DOI:10.1212/WNL.0000000000008860

Myopathies congénitales – Congenital myopathies 28. Muscle Nerve. 2019 Dec 31. doi: 10.1002/mus.26798. [Epub ahead of print]

In vivo characterization of skeletal muscle function in nebulin-deficient mice. Gineste C1, Ogier AC2, Varlet I1, Hourani Z3, Bernard M1, Granzier H3, Bendahan D1, Gondin J1,4. 1CNRS, CRMBM, Aix-Marseille Univ, Marseille, France. 2Aix Marseille Univ, Université de Toulon, CNRS, LIS, Marseille, France. 3Department of Cellular and Molecular Medicine, University of Arizona, Tucson, USA. 4Institut NeuroMyoGène, UMR CNRS 5310 - INSERM U1217, Université Claude Bernard Lyon 1, Lyon, France. KEYWORDS: Nemaline myopathy; in vivo; muscle wasting, fatigue; muscle weakness; neuromuscular disorder PMID: 31893464 DOI:10.1002/mus.26798

Myopathies inflammatoires – Inflammatory myopathies 29. Clin Rheumatol. 2020 Jan 4. doi: 10.1007/s10067-019-04910-w. [Epub ahead of print]

Mortality of Chinese patients with polymyositis and dermatomyositis. Yang X1, Hao Y1, Zhang X1, Geng Y1, Ji L1, Li G1, Zhang Z2. 1Department of Rheumatology and Clinical Immunology, Peking University First Hospital, 8 Xishiku St, Beijing, 100034, People's Republic of China. 2Department of Rheumatology and Clinical Immunology, Peking University First Hospital, 8 Xishiku St, Beijing, 100034, People's Republic of China. zhuoli.zhang@126.com. KEYWORDS: Dermatomyositis; Mortality; Polymyositis; Predictors for outcomes PMID: 31902027 DOI:10.1007/s10067-019-04910-w

30. Cytokine. 2020 Jan 2;127:154966. doi: 10.1016/j.cyto.2019.154966. [Epub ahead of print] The myokine GDF-15 is a potential biomarker for myositis and associates with the protein aggregates of sporadic inclusion body myositis. De Paepe B1, Verhamme F2, De Bleecker JL3. 1Department of Neurology and Neuromuscular Reference Centre, Ghent University Hospital, Ghent, Belgium. Electronic address: boel.depaepe@ugent.be. 2Department of Respiratory Medicine, Ghent University Hospital, Ghent, Belgium. 3Department of Neurology and Neuromuscular Reference Centre, Ghent University Hospital, Ghent, Belgium. KEYWORDS: Biomarkers; Growth differentiation factor-15; Idiopathic inflammatory myopathy; Myositis; Sporadic inclusion body myositis PMID: 31901761 DOI:10.1016/j.cyto.2019.154966

31. Rheumatol Int. 2020 Jan 3. doi: 10.1007/s00296-019-04495-2. [Epub ahead of print] Juvenile dermatomyositis resembling late-stage Degos disease with gastrointestinal perforations successfully treated with combination of cyclophosphamide and rituximab: case-based review. Day W1, Gabriel C2, Kelly RE Jr3, Magro CM4, Williams JV5, Werner A6, Gifford L5, Lapsia SP7, Aguiar CL8. 1Eastern Virginia Medical School, Norfolk, VA, USA. 2Department of Pediatric Rheumatology, Children's Hospital of The King's Daughters, Eastern Virginia Medical School, 601 Children's Lane, Norfolk, VA, 23507, USA. 3Department of Pediatric Surgery, Children's Hospital of The King's Daughters, Eastern Virginia Medical School, Norfolk, VA, USA. 4Department of Pathology, Weill Cornell Medicine, New York, NY, USA. 5Department of Pediatric Dermatology, Children's Hospital of The King's Daughters, Eastern Virginia Medical School, Norfolk, VA, USA. 6Department of Pathology, Children's Hospital of The King's Daughters, Eastern Virginia Medical School, Norfolk, VA, USA. 7Department of Pediatric Gastroenterology, Children's Hospital of The King's Daughters, Eastern Virginia Medical School, Norfolk, VA, USA.

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8Department of Pediatric Rheumatology, Children's Hospital of The King's Daughters, Eastern Virginia Medical School, 601 Children's Lane, Norfolk, VA, 23507, USA. Cassyanne.Aguiar@chkd.org. KEYWORDS: Cyclophosphamide; Degos disease; Dermatomyositis; Gastrointestinal perforation; Rituximab PMID: 31900501 DOI:10.1007/s00296-019-04495-2

32. J Cancer Res Ther. 2019 Oct-Dec;15(6):1395-1397. doi: 10.4103/jcrt.JCRT_1012_16. A diagnostic dilemma: A rare case of an ovarian carcinoma with signet ring cells hidden behind a substantial dermatomyositis. Aydin AA1, Ayik H2, Onder AH1, Ozturk B1, Yildiz M1. 1Department of Medical Oncology, Antalya Training and Research Hospital, Antalya, Turkey. 2Department of Obstetrics and Gynecology, Akdeniz University Medical School, Antalya, Turkey. KEYWORDS: Dermatomyositis; ovarian carcinoma; signet ring cell PMID: 31898679 DOI:10.4103/jcrt.JCRT_1012_16

33. Clin Rheumatol. 2020 Jan 2. doi: 10.1007/s10067-019-04877-8. [Epub ahead of print] Polymyositis has minimal effect on primary total knee or hip arthroplasty outcomes. Singh JA1,2,3, Cleveland JD4. 1Medicine Service, VA Medical Center, Faculty Office Tower 805B, University of Alabama, 510, 20th street South, FOT 805B, Birmingham, AL, 35233, USA. Jasvinder.md@gmail.com. 2Department of Medicine at School of Medicine, University of Alabama at Birmingham, Birmingham, AL, USA. Jasvinder.md@gmail.com. 3Division of Epidemiology at School of Public Health, University of Alabama at Birmingham, 1720 Second Ave South, Birmingham, AL, 35294-0022, USA. Jasvinder.md@gmail.com. 4Department of Medicine at School of Medicine, University of Alabama at Birmingham, Birmingham, AL, USA. KEYWORDS: Discharge; Epidemiology; Health services research; Healthcare utilization; Hospital stay; Hospitalization; Infection; Mortality; Outcomes; Polymyositis; Resource utilization; Revision; THA; TKA; Total hip arthroplasty; Total knee arthroplasty; Transfusion PMID: 31897955 DOI:10.1007/s10067-019-04877-8

34. J Clin Rheumatol. 2019 Dec 28. doi: 10.1097/RHU.0000000000001234. [Epub ahead of print] Anti-Jo-1 Syndrome Often Misdiagnosed as Rheumatoid Arthritis (for Many Years): A Single-Center Experience. Kumar RR1, Jha S1, Dhooria A1, Naidu GSRSNK1, Minz RW2, Kumar S1, Sharma SK1, Sharma A1, Jain S1, Dhir V1. 1From the Clinical Immunology and Rheumatology Division, Department of Internal Medicine. 2Department of Immunopathology, Post Graduate Institute of Medical Education and Research, Chandigarh, India. PMID: 31895110 DOI:10.1097/RHU.0000000000001234

35. Eur J Case Rep Intern Med. 2019 Dec 12;6(12):001368. doi: 10.12890/2019_001368. eCollection 2019. Inclusion Body Myositis Treated with Alemtuzumab. Sá J1, Costelha J2, Marinho A3. 1Centro Hospitalar Cova da Beira, Covilhã, Portugal. 2Unidade Local de Saúde do Alto Minho, EPE, Portugal. 3Centro Hospitalar do Porto, Porto, Portugal. KEYWORDS: Inclusion body myositis; alemtuzumab; myopathy; treatment PMID: 31893209 PMCID:PMC6936915 DOI:10.12890/2019_001368

36. Adv Rheumatol. 2019 Dec 31;60(1):3. doi: 10.1186/s42358-019-0109-1. The aerobic capacity in patients with antisynthetase syndrome and dermatomyositis. Dos Santos AM1, Missé RG1, Borges IBP1, Shinjo SK2. 1Division of Rheumatology, Faculdade de Medicina FMUSP, Universidade de Sao Paulo, Av. Dr. Arnaldo, 455, 3º andar, sala 3150 - Cerqueira César, Sao Paulo, SP, CEP: 01246-903, Brazil. 2Division of Rheumatology, Faculdade de Medicina FMUSP, Universidade de Sao Paulo, Av. Dr. Arnaldo, 455, 3º andar, sala 3150 - Cerqueira César, Sao Paulo, SP, CEP: 01246-903, Brazil. samuel.shinjo@gmail.com. KEYWORDS: Aerobic capacity; Antisynthetase syndrome; Dermatomyositis; Myositis PMID: 31892346 DOI:10.1186/s42358-019-0109-1

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37. Eur J Case Rep Intern Med. 2019 Nov 11;6(11):001294. doi: 10.12890/2019_001294. eCollection 2019. Efficacy of Rituximab in Refractory Inflammatory Myopathy Associated With Coexistence of Behçet's Disease and Antiphospholipid Syndrome. Guiomar V1, Oliveira D1, Correia C1, Pereira E1. 1Internal Medicine Department, Centro Hospitalar de São João, Porto, Portugal. KEYWORDS: Behçet’s disease; Rituximab; antiphospholipid syndrome; inflammatory myopathy; polymyositis PMID: 31890711 PMCID:PMC6886631 DOI:10.12890/2019_001294

38. J Clin Neurosci. 2019 Dec 27. pii: S0967-5868(19)31300-1. doi: 10.1016/j.jocn.2019.11.038. [Epub ahead of print] Checkpoint inhibitor myasthenia-like syndrome and myositis associated with extraocular muscle atrophy. Ozarczuk TRA1, Prentice DA2, Kho LK3, vanHeerden J4. 1General Medicine Department, St John of God Midland Public Hospital, PO Box 1254, Midland, Western Australia, Australia. Electronic address: Tia.Ozarczuk@health.wa.gov.au. 2General Medicine Department, St John of God Midland Public Hospital, PO Box 1254, Midland, Western Australia, Australia. 3Neurology Department, St John of God Midland Public Hospital, PO Box 1254, Midland, Western Australia, Australia. 4Perth Radiological Clinic, St John of God Midland Public Hospital, PO Box 1254, Midland, Western Australia, Australia. KEYWORDS: Immune checkpoint inhibitors (ICI); Melanoma; Myasthenia; Myositis; Pembrolizumab PMID: 31889642 DOI:10.1016/j.jocn.2019.11.038

Maladie de Pompe – Pompe disease 39. Pediatr Pulmonol. 2020 Jan 3. doi: 10.1002/ppul.24621. [Epub ahead of print]

Pulmonary outcome measures in long-term survivors of infantile Pompe disease on enzyme replacement therapy: A case series. ElMallah MK1, Desai AK2, Nading EB2, DeArmey S2, Kravitz RM1, Kishnani PS2. 1Division of Pulmonary Medicine, Department of Pediatrics, Duke University School of Medicine, Durham, North Carolina. 2Division of Medical Genetics, Department of Pediatrics, Duke University School of Medicine, Durham, North Carolina. KEYWORDS: enzyme replacement therapy; infantile Pompe disease; pulmonary function testing PMID: 31899940 DOI:10.1002/ppul.24621

Myopathies mitochondriales – Mitochondrial myopathies 40. Neurology. 2020 Jan 2. pii: 10.1212/WNL.0000000000008861. [Epub ahead of print]

Safety and efficacy of omaveloxolone in patients with mitochondrial myopathy (MOTOR trial). Madsen KL1, Buch AE2, Cohen BH2, Falk MJ2, Goldsberry A2, Goldstein A2, Karaa A2, Koenig MK2, Muraresku CC2, Meyer C2, O'Grady M2, Scaglia F2, Shieh PB2, Vockley J2, Zolkipli-Cunningham Z2, Haller RG2, Vissing J2. 1From Copenhagen Neuromuscular Center (K.L.M., A.E.B., J.V.), Rigshospitalet, University of Copenhagen, Denmark; Akron Children's Hospital (B.H.C.), OH; Mitochondrial Medicine Frontier Program, Department of Pediatrics (M.J.F., C.C.M., Z.Z.C.), The Children's Hospital of Philadelphia; University of Pennsylvania Perelman School of Medicine (M.J.F., Z.Z.C.), Philadelphia; Reata Pharmaceuticals (A. Goldsberry, C.M., M.O.), Irving, TX; University of Pittsburgh School of Medicine (A. Goldstein, J.V.), Children's Hospital of Pittsburgh of UPMC, PA; Genetics Unit (A.K.), Massachusetts General, Boston; University of Texas Medical School (M.K.K.); Baylor College of Medicine (F.S.); Texas Children's Hospital (F.S.), Houston; BCM-CUHK Center of Medical Genetics (F.S.), Prince of Wales Hospital, ShaTin, New Territories, Hong Kong; University of California Los Angeles (P.B.S.); and University of Texas Southwestern Medical Center and Neuromuscular Center (R.G.H.), Institute for Exercise & Environmental Medicine, Dallas. karen.lindhardt.madsen@regionh.dk. 2From Copenhagen Neuromuscular Center (K.L.M., A.E.B., J.V.), Rigshospitalet, University of Copenhagen, Denmark; Akron Children's Hospital (B.H.C.), OH; Mitochondrial Medicine Frontier Program, Department of Pediatrics (M.J.F., C.C.M., Z.Z.C.), The Children's Hospital of Philadelphia; University of Pennsylvania Perelman School of Medicine (M.J.F., Z.Z.C.), Philadelphia; Reata Pharmaceuticals (A. Goldsberry, C.M., M.O.), Irving, TX; University of Pittsburgh School of Medicine (A. Goldstein, J.V.), Children's Hospital of Pittsburgh of UPMC, PA; Genetics Unit (A.K.), Massachusetts General, Boston; University of Texas Medical School (M.K.K.); Baylor College of Medicine (F.S.); Texas Children's Hospital (F.S.), Houston; BCM-CUHK Center of Medical Genetics (F.S.), Prince of Wales Hospital, ShaTin, New Territories, Hong Kong; University of California Los Angeles (P.B.S.); and University of Texas Southwestern Medical Center and Neuromuscular Center (R.G.H.), Institute for Exercise & Environmental Medicine, Dallas. PMID: 31896620 DOI:10.1212/WNL.0000000000008861

Bibliographie sur les maladies neuromusculaires

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Syndromes myasthéniques congénitaux – Congenital myasthenic syndrome 41. J Clin Neurosci. 2019 Dec 27. pii: S0967-5868(19)31571-1. doi: 10.1016/j.jocn.2019.11.030. [Epub ahead of print]

Congenital myasthenic syndrome: Ten years clinical experience from a quaternary care south-Indian hospital. Wadwekar V1, Nair SS2, Tandon V2, Kuruvilla A2, Nair M3. 1Department of Neurology, Sree Chitra Tirunal Institute for Medical Sciences and Technology, Trivandrum 695011, India; Department of Neurology, Jawaharlal Institute of Post Graduate Medical Education and Research, Puducherry 605006, India. 2Department of Neurology, Sree Chitra Tirunal Institute for Medical Sciences and Technology, Trivandrum 695011, India. 3Department of Neurology, Sree Chitra Tirunal Institute for Medical Sciences and Technology, Trivandrum 695011, India. Electronic address: mdnair1954@gmail.com. KEYWORDS: Congenital myasthenic syndrome; Genetic testing; India; Limb girdle; Seronegative myasthenia gravis PMID: 31889643 DOI:10.1016/j.jocn.2019.11.030

42. Mol Med. 2019 Dec 31;26(1):4. doi: 10.1186/s10020-019-0129-7. Disorders of FZ-CRD; insights towards FZ-CRD folding and therapeutic landscape. Milhem RM1, Ali BR2,3. 1Department of Natural and Applied Sciences, University of Dubai, P.O.Box: 14143, Academic City, Dubai, United Arab Emirates. rmilhem@ud.ac.ae. 2Department of Pathology, College of Medicine and Health Sciences, United Arab Emirates University, Al-Ain, Abu Dhabi, United Arab Emirates. 3Zayed Center for Health Sciences, United Arab Emirates University, Al-Ain, Abu Dhabi, United Arab Emirates. KEYWORDS: Cystic fibrosis conductance regulator protein; ERAD; protein misfolding; Familial exudative vitreoretinopathy; congenital myasthenic syndrome; Robinow syndrome; receptor tyrosine kinase-like orphan receptor 2; frizzled class receptor 4; muscle; Frizzled cysteine-rich domain; Frizzled receptors; Lipidation; Proteostasis; Receptor tyrosine kinase; conformational diseases; Skeletal; cis-unsaturated fatty acids PMID: 31892318 DOI:10.1186/s10020-019-0129-7

Maladies neuromusculaires (plusieurs pathologies) – Neuromuscular diseases (Multiple) 43. Croat Med J. 2019 Dec 31;60(6):488-493.

The prevalence of muscular dystrophy and spinal muscular atrophy in Croatia: data from national and non-governmental organization registries. Draušnik Ž1, Cerovečki I, Štefančić V, Mihel S, Stevanović R, Barišić N, Matković H, Melša M, Mirić M, Pjevač N, Benjak T. 1Željka Draušnik, Division of Public Health, Croatian Institute of Public Health, Rockefeller str 7, 10000 Zagreb, Croatia, zeljkadrausnik@gmail.com. PMID: 31894913

44. Pediatr Transplant. 2019 Dec 31:e13643. doi: 10.1111/petr.13643. [Epub ahead of print] Pediatric waitlist and heart transplant outcomes in patients with syndromic anomalies. Wilkens SJ1, Priest J1, Kaufman BD1, Barkoff L1, Rosenthal DN1, Hollander SA1. 1Lucile Packard Children's Hospital, Stanford University, Palo Alto, CA, USA. KEYWORDS: outcome; pediatric; syndrome; transplant; waitlist PMID: 31891211 DOI:10.1111/petr.13643

45. J Neural Eng. 2020 Jan 3. doi: 10.1088/1741-2552/ab673e. [Epub ahead of print] Transcutaneous innervation zone imaging from high-density surface electromyography recordings. Liu Y1, Zhang C1, Dias N1, Chen YT2, Li S3, Zhou P4, Zhang Y5. 1Department of Biomedical Engineering, University of Houston, Houston, Texas, UNITED STATES. 2Department of Physical Medicine and Rehabilitation, University of Texas Health Science Center at Houston, Houston, Texas, UNITED STATES. 3Department of Physical Medicine and Rehabilitation, University of Texas Medical School, Houston, Texas, UNITED STATES. 4University of Texas Health Science Center at Houston, Houston, UNITED STATES. 5Department of Biomedical Engineering, University of Houston, Room 2027, 3605 Cullen Boulevard, Houston, TX 77204-5060, USA, Houston, 77204, UNITED STATES. KEYWORDS: blurring/distorting effect; decomposition; innervation zone; inverse problem; stroke; surface electromyography

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PMID: 31899901 DOI:10.1088/1741-2552/ab673e

46. J Child Neurol. 2020 Jan 3:883073819894820. doi: 10.1177/0883073819894820. [Epub ahead of print] Response to "The Spectrum of Neuromuscular Disorders Admitted to a Pediatric ICU Is Broader Than Anticipated". Harrar DB, Darras BT, Ghosh PS. PMID: 31896288 DOI:10.1177/0883073819894820

47. J Mater Chem B. 2020 Jan 2. doi: 10.1039/c9tb02208b. [Epub ahead of print] Characterization and application of fluidic properties of trinucleotide repeat sequences by wax-on-plastic microfluidics. Qamar AZ1, Asefifeyzabadi N1, Taki M1, Naphade S2, Ellerby LM2, Shamsi MH1. 1Department of Chemistry & Biochemistry, Southern Illinois University at Carbondale, 1245 Lincoln Dr, Carbondale, IL 62901, USA. mshamsi@siu.edu. 2The Buck Institute for Research on Aging, 8001 Redwood Blvd, Novato, CA 94945, USA. PMID: 31894829 DOI:10.1039/c9tb02208b

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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.

Cardiologie – Cardiology

Pediatr Transplant. 2019 Dec 31:e13643. doi: 10.1111/petr.13643. [Epub ahead of print] Pediatric waitlist and heart transplant outcomes in patients with syndromic anomalies. Wilkens SJ1, Priest J1, Kaufman BD1, Barkoff L1, Rosenthal DN1, Hollander SA1. 1Lucile Packard Children's Hospital, Stanford University, Palo Alto, CA, USA. KEYWORDS: outcome; pediatric; syndrome; transplant; waitlist PMID: 31891211 DOI:10.1111/petr.13643

Myographie – Myography J Neural Eng. 2020 Jan 3. doi: 10.1088/1741-2552/ab673e. [Epub ahead of print]

Transcutaneous innervation zone imaging from high-density surface electromyography recordings. Liu Y1, Zhang C1, Dias N1, Chen YT2, Li S3, Zhou P4, Zhang Y5. 1Department of Biomedical Engineering, University of Houston, Houston, Texas, UNITED STATES. 2Department of Physical Medicine and Rehabilitation, University of Texas Health Science Center at Houston, Houston, Texas, UNITED STATES. 3Department of Physical Medicine and Rehabilitation, University of Texas Medical School, Houston, Texas, UNITED STATES. 4University of Texas Health Science Center at Houston, Houston, UNITED STATES. 5Department of Biomedical Engineering, University of Houston, Room 2027, 3605 Cullen Boulevard, Houston, TX 77204-5060, USA, Houston, 77204, UNITED STATES. KEYWORDS: blurring/distorting effect; decomposition; innervation zone; inverse problem; stroke; surface electromyography PMID: 31899901 DOI:10.1088/1741-2552/ab673e

Gastroentérologie / Nutrition – Gastroenterology / Nutrition Rheumatol Int. 2020 Jan 3. doi: 10.1007/s00296-019-04495-2. [Epub ahead of print]

Juvenile dermatomyositis resembling late-stage Degos disease with gastrointestinal perforations successfully treated with combination of cyclophosphamide and rituximab: case-based review. Day W1, Gabriel C2, Kelly RE Jr3, Magro CM4, Williams JV5, Werner A6, Gifford L5, Lapsia SP7, Aguiar CL8. 1Eastern Virginia Medical School, Norfolk, VA, USA. 2Department of Pediatric Rheumatology, Children's Hospital of The King's Daughters, Eastern Virginia Medical School, 601 Children's Lane, Norfolk, VA, 23507, USA. 3Department of Pediatric Surgery, Children's Hospital of The King's Daughters, Eastern Virginia Medical School, Norfolk, VA, USA. 4Department of Pathology, Weill Cornell Medicine, New York, NY, USA. 5Department of Pediatric Dermatology, Children's Hospital of The King's Daughters, Eastern Virginia Medical School, Norfolk, VA, USA. 6Department of Pathology, Children's Hospital of The King's Daughters, Eastern Virginia Medical School, Norfolk, VA, USA. 7Department of Pediatric Gastroenterology, Children's Hospital of The King's Daughters, Eastern Virginia Medical School, Norfolk, VA, USA. 8Department of Pediatric Rheumatology, Children's Hospital of The King's Daughters, Eastern Virginia Medical School, 601 Children's Lane, Norfolk, VA, 23507, USA. Cassyanne.Aguiar@chkd.org. KEYWORDS: Cyclophosphamide; Degos disease; Dermatomyositis; Gastrointestinal perforation; Rituximab PMID: 31900501 DOI:10.1007/s00296-019-04495-2

Imagerie médicale – Medical imaging Acta Neuropathol. 2020 Jan 3. doi: 10.1007/s00401-019-02117-6. [Epub ahead of print]

POGLUT1 biallelic mutations cause myopathy with reduced satellite cells, α-dystroglycan hypoglycosylation and a distinctive radiological pattern. Servián-Morilla E1,2, Cabrera-Serrano M1,2, Johnson K3,4, Pandey A5, Ito A6, Rivas E2,7, Chamova T8, Muelas N9, Mongini T10, Nafissi S11, Claeys KG12,13, Grewal RP14, Takeuchi M6, Hao H6, Bönnemann C15, Lopes Abath Neto O15, Medne L16,

Bibliographie sur les maladies neuromusculaires

Bibliography of neuromuscular disorders n° 2020-01-1 du 1 au 6 janvier 2020 (January 1 to 6, 2020)

AFM-Téléthon (Service Documentation) – 07/01/2020 15/16

Brandsema J16, Töpf A3, Taneva A8, Vilchez JJ9, Tournev I8,17, Haltiwanger RS6, Takeuchi H18, Jafar-Nejad H5, Straub V3, Paradas C19,20. 1Neuromuscular Disorders Unit, Department of Neurology, Instituto de Biomedicina de Sevilla, Hospital U. Virgen del Rocío/CSIC/Universidad de Sevilla, Sevilla, Spain. 2Centro de Investigación Biomédica en Red Sobre Enfermedades Neurodegenerativas (CIBERNED), Madrid, Spain. 3The John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, NE1 3BZ, UK. 4Institute of Cellular Medicine, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK. 5Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA. 6Complex Carbohydrate Research Center, University of Georgia, Athens, GA, 30602, USA. 7Department of Neuropathology, Hospital U. Virgen del Rocío/Instituto de Biomedicina de Sevilla (IBiS), Sevilla, Spain. 8Department of Neurology, Clinic of Nervous Diseases, University Hospital "Alexandrovska", Medical University Sofia, Sofia, Bulgaria. 9Neuromuscular Disorders Unit, Department of Neurology and IIS La Fe, Hospital UiP La Fe, Centro de Investigación Biomédica en Red Sobre Enfermedades Raras (CIBERER), Valencia, Spain. 10Neuromuscular Unit, Department of Neuroscience "Rita Levi Montalcini", University of Torino, Torino, Italy. 11Department of Neurology, Shariati Hospital, Tehran University of Medical Sciences, Tehran, Iran. 12Department of Neurology, University Hospitals Leuven, Leuven, Belgium. 13Laboratory for Muscle Diseases and Neuropathies, Department of Neurosciences, KU Leuven, Leuven, Belgium. 14Department of Neuroscience, School of Health and Medical Sciences, Seton Hall University/Saint Francis Medical Center, Trenton, NJ, USA. 15Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD, USA. 16Divisions of Neurology and Human Genetics of Genomic Medicine, Children's Hospital of Philadelphia, Philadelphia, USA. 17Department of Cognitive Science and Psychology, New Bulgarian University, Sofia, Bulgaria. 18Department of Molecular Biochemistry, Nagoya University Graduate School of Medicine, Nagoya, Aichi, 466-8550, Japan. 19Neuromuscular Disorders Unit, Department of Neurology, Instituto de Biomedicina de Sevilla, Hospital U. Virgen del Rocío/CSIC/Universidad de Sevilla, Sevilla, Spain. cparadas@us.es. 20Centro de Investigación Biomédica en Red Sobre Enfermedades Neurodegenerativas (CIBERNED), Madrid, Spain. cparadas@us.es. KEYWORDS: Muscle dystrophy; Notch; POGLUT1; Satellite cells; α-Dystroglycan PMID: 31897643 DOI:10.1007/s00401-019-02117-6

Neurology. 2019 Dec 31. pii: 10.1212/WNL.0000000000008811. [Epub ahead of print] Muscle MRI: A biomarker of disease severity in Duchenne muscular dystrophy? A systematic review. Ropars J1, Gravot F2, Ben Salem D2, Rousseau F2, Brochard S2, Pons C2. 1From the Department of Pediatrics (J.R., F.G.), CHU Brest, Brest, France; Neuromuscular Center (J.R., S.B., C.P), Brest, France; Laboratoire du Traitement de l'Information Médicale (J.R., D.B.S., F.R, S.B., C.P.), LaTIM INSERM UMR1101, Brest, France; Department of Radiology (D.B.S.), CHU Brest, Brest, France; Institut Mines Télécom Atlantiques (F.R), Brest, France; and Department of Pediatric Physical and Medical Rehabilitation (S.B., C.P.), Fondation ILDYS, Brest, France. ju.ropars@gmail.com. 2From the Department of Pediatrics (J.R., F.G.), CHU Brest, Brest, France; Neuromuscular Center (J.R., S.B., C.P), Brest, France; Laboratoire du Traitement de l'Information Médicale (J.R., D.B.S., F.R, S.B., C.P.), LaTIM INSERM UMR1101, Brest, France; Department of Radiology (D.B.S.), CHU Brest, Brest, France; Institut Mines Télécom Atlantiques (F.R), Brest, France; and Department of Pediatric Physical and Medical Rehabilitation (S.B., C.P.), Fondation ILDYS, Brest, France. PMID: 31892637 DOI:10.1212/WNL.0000000000008811

Ophtalmologie – Ophthalmology Neurologia. 2019 Dec 30. pii: S0213-4853(19)30128-8. doi: 10.1016/j.nrl.2019.10.004. [Epub ahead of print]

Eye involvement in patients with myotonic dystrophy. [Article in English, Spanish] Vitiello L1, Politano L2, De Bernardo M3, Rosa N1. 1Departamento de Medicina, Cirugía y Odontología, Scuola Medica Salernitana, Universidad de Salerno, Salerno, Italia. 2Cardiomiología y Genética Médica, Departamento de Medicina Experimental, Universidad de Campania «Luigi Vanvitelli», Nápoles, Italia. 3Departamento de Medicina, Cirugía y Odontología, Scuola Medica Salernitana, Universidad de Salerno, Salerno, Italia. Electronic address: mdebernardo@unisa.it. PMID: 31899010 DOI:10.1016/j.nrl.2019.10.004

Bibliographie sur les maladies neuromusculaires

Bibliography of neuromuscular disorders n° 2020-01-1 du 1 au 6 janvier 2020 (January 1 to 6, 2020)

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Pneumologie – Pulmonogy BMC Proc. 2019 Dec 16;13(Suppl 11):21. doi: 10.1186/s12919-019-0179-4. eCollection 2019.

Use of air stacking to improve pulmonary function in Indonesian Duchenne muscular dystrophy patients: bridging the standard of care gap in low middle income country setting. Iskandar K1,2, Sunartini1,2,3, Nugrahanto AP2, Ilma N2, Kalim AS2, Adistyawan G4, Siswanto5, Naning R3. 1Department of Child Health/Genetics Working Group, Faculty of Medicine, Public Health and Nursing/UGM Academic Hospital, Universitas Gadjah Mada, Jl. Kabupaten (Lingkar Utara), Kronggahan, Trihanggo, Gamping, Sleman, Yogyakarta, 55291 Indonesia. 2Genetics Working Group, Faculty of Medicine, Public Health and Nursing, Universitas Gadjah Mada, Yogyakarta, Indonesia. 3Department of Child Health, Faculty of Medicine, Public Health and Nursing, Dr. Sardjito Hospital, Universitas Gadjah Mada, Yogyakarta, Indonesia. 4Department of Rehabilitation and Physical Medicine, UGM Academic Hospital, Yogyakarta, Indonesia. 5Department of Pulmonology and Respiratory Medicine, UGM Academic Hospital, Yogyakarta, Indonesia. KEYWORDS: Duchenne muscular dystrophy; Respiratory devices; Respiratory function PMID: 31890014 PMCID:PMC6912939 DOI:10.1186/s12919-019-0179-4

Adv Rheumatol. 2019 Dec 31;60(1):3. doi: 10.1186/s42358-019-0109-1. The aerobic capacity in patients with antisynthetase syndrome and dermatomyositis. Dos Santos AM1, Missé RG1, Borges IBP1, Shinjo SK2. 1Division of Rheumatology, Faculdade de Medicina FMUSP, Universidade de Sao Paulo, Av. Dr. Arnaldo, 455, 3º andar, sala 3150 - Cerqueira César, Sao Paulo, SP, CEP: 01246-903, Brazil. 2Division of Rheumatology, Faculdade de Medicina FMUSP, Universidade de Sao Paulo, Av. Dr. Arnaldo, 455, 3º andar, sala 3150 - Cerqueira César, Sao Paulo, SP, CEP: 01246-903, Brazil. samuel.shinjo@gmail.com. KEYWORDS: Aerobic capacity; Antisynthetase syndrome; Dermatomyositis; Myositis PMID: 31892346 DOI:10.1186/s42358-019-0109-1

Pediatr Pulmonol. 2020 Jan 3. doi: 10.1002/ppul.24621. [Epub ahead of print] Pulmonary outcome measures in long-term survivors of infantile Pompe disease on enzyme replacement therapy: A case series. ElMallah MK1, Desai AK2, Nading EB2, DeArmey S2, Kravitz RM1, Kishnani PS2. 1Division of Pulmonary Medicine, Department of Pediatrics, Duke University School of Medicine, Durham, North Carolina. 2Division of Medical Genetics, Department of Pediatrics, Duke University School of Medicine, Durham, North Carolina. KEYWORDS: enzyme replacement therapy; infantile Pompe disease; pulmonary function testing PMID: 31899940 DOI:10.1002/ppul.24621