Veille Neuromusculaire / Neuromuscular Alert Bibliographie sur les maladies neuromusculaires / Bibliography on neuromuscular disorders n° 2018-08-1 du 06 au 26 Août 2018 (August 6 to 26, 2018)

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 Alert” 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 l'AFM-Téléthon. Previous alerts are available for consultation on Myobase, the AFM bibliographic database in the field of Neuromuscular Disorders

Sommaire par maladies / diseases

Amyotrophies spinales – Spinal muscular atrophies ...... 3 Amyotrophie spinale proximale liée à SMN1 – SMN1-related spinal muscular atrophy (SMA) ...... 3 Canalopathies musculaires – Muscular ...... 7 Maladie de Charcot-Marie-Tooth – Charcot-Marie-Tooth disease ...... 7 Dystrophies musculaires congénitales – Congenital muscular dystrophies ...... 9 Dystrophies musculaires des ceintures – Limb-girdle muscular dystrophies ...... 10 Dystrophinopathies, dystrophie musculaire de Duchenne, dystrophie musculaire de Becker – Dystrophinopathies ...... 11 Dystrophies musculaires d’Emery-Dreifuss – Emery-Dreifuss muscular dystrophies ...... 17 Dystrophie musculaire facioscapulohumérale – Facioscapulohumeral (FSHD) 17 Dystrophies myotoniques – Myotonic dystrophies ...... 18 Fibrodysplasie ossifiante progressive – Fibrodysplasia ossificans progressiva ...... 20 Laminopathies – Laminopathies ...... 21 Maladie de Pompe – Pompe disease ...... 21 Myasthénie autoimmune – ...... 22 congénitales – Congenital myopathies ...... 26 Myopathies distales – Distal myopathies ...... 27 Myopathies inflammatoires – Inflammatory myopathies ...... 28 Myopathies métaboliques – Metabolic myopathies ...... 35 Myopathies mitochondriales – Mitochondrial myopathies ...... 37 Syndromes myasthéniques congénitaux – Congenital myasthenic syndrome ...... 39 Syndrome de Schwartz-Jampel – Schwartz-Jampel syndrome ...... 40 Maladies du motoneurone (plusieurs pathologies) – Motor neuron diseases (several diseases) ...... 40 Dystrophies musculaires (plusieurs pathologies) – Muscular dystrophies (several diseases) ...... 40 Maladies neuromusculaires (plusieurs pathologies) – Neuromuscular diseases (several diseases) . 41 Divers – Miscellaneous ...... 44

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Veille Neuromusculaire / Neuromuscular Alert Bibliographie sur les maladies neuromusculaires / Bibliography on neuromuscular disorders n° 2018-08-1 du 06 au 26 Août 2018 (August 6 to 26, 2018)

Sommaire par spécialités / specialties

Cardiologie – Cardiology ...... 45 Douleur – Pain ...... 47 Électromyographie – Electromyography ...... 47 Gastroentérologie / Nutrition – Gastroenterology / Nutrition ...... 48 Imagerie médicale – Medical imaging ...... 49 Médecine physique et de réadaptation – Physical and rehabilitation medicine ...... 51 Nephrologie – Nephrology ...... 51 Ophtalmologie – Ophthalmology ...... 51 Pneumologie – Pneumology ...... 52

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Veille Neuromusculaire / Neuromuscular Alert Bibliographie sur les maladies neuromusculaires / Bibliography on neuromuscular disorders n° 2018-08-1 du 06 au 26 Août 2018 (August 6 to 26, 2018)

Amyotrophies spinales – Spinal muscular atrophies 1. Neuromuscul Disord. 2018 Jul 20. pii: S0960-8966(18)30025-7. doi: 10.1016/j.nmd.2018.07.002. [Epub ahead of print] A recurrent de novo DYNC1H1 tail domain mutation causes spinal muscular atrophy with lower extremity predominance, learning difficulties and mild brain abnormality. Chan SHS1, van Alfen N2, Thuestad IJ3, Ip J4, Chan AO5, Mak C6, Chung BH6, Verrips A7, Kamsteeg EJ8. 1Department of Paediatrics and Adolescent Medicine, Queen Mary Hospital, The University of Hong Kong, Hong Kong Special Administrative Region, China. Electronic address: [email protected]. 2Department of Neurology and Clinical Neurophysiology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands. 3Department of Pediatric Neurology, Skåne University Hospital, Malmö, Sweden. 4Department of Radiology, Queen Mary Hospital, Hong Kong Special Administrative Region. 5Department of Pathology, Queen Mary Hospital, Hong Kong Special Administrative Region. 6Department of Paediatrics and Adolescent Medicine, Queen Mary Hospital, The University of Hong Kong, Hong Kong Special Administrative Region, China. 7Department of Pediatric Neurology, Canisius-Wilhelmina Hospital, Nijmegen, The Netherlands. 8Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands. KEYWORDS: Brain MRI; Dynein cytoplasmic 1 heavy chain 1 (DYNC1H1) gene; Muscle MRI; Spinal muscular atrophy with lower extremity predominance (SMALED) PMID: 30122514 DOI: 10.1016/j.nmd.2018.07.002

Amyotrophie spinale proximale liée à SMN1 – SMN1-related spinal muscular atrophy (SMA) 2. OMICS. 2018 Aug 14. doi: 10.1089/omi.2018.0106. [Epub ahead of print] Do Perineuronal Net Elements Contribute to Pathophysiology of Spinal Muscular Atrophy? In Vitro and Transcriptomics Insights. Dayangac-Erden D1, Gur-Dedeoglu B2, Eskici FN1, Oztemur-Islakoglu Y2, Erdem-Ozdamar S3. 1 Department of Medical Biology, Faculty of Medicine, Hacettepe University , Ankara, Turkey . 2 Biotechnology Institute, Ankara University , Ankara, Turkey . 3 Department of Neurology, Faculty of Medicine, Hacettepe University , Ankara, Turkey . KEYWORDS: SMN1 gene; hyaluronan and proteoglycan link protein; neurodegenerative disorders; perineuronal net; phenotypic variability; spinal muscular atrophy PMID: 30106667 DOI: 10.1089/omi.2018.0106

3. Neurology. 2018 Aug 24. pii: 10.1212/WNL.0000000000006241. doi: 10.1212/WNL.0000000000006241. [Epub ahead of print] Patient Reported Impact of Symptoms in Spinal Muscular Atrophy (PRISM-SMA). Mongiovi P1, Dilek N2, Garland C2, Hunter M2, Kissel JT2, Luebbe E2, McDermott MP2, Johnson N2, Heatwole C2. 1From the Departments of Neurology (P.M., N.D., E.L., M.P.M., C.H.) and Biostatistics and Computational Biology (M.P.M.), University of Rochester, NY; Department of Medical Genetics (C.G.), Indiana University, Indianapolis; Department of Neurology (M.H., N.J.), University of Utah, Salt Lake City; and Department of Neurology (J.T.K.), The Ohio State University Wexner Medical Center, Columbus. [email protected]. 2From the Departments of Neurology (P.M., N.D., E.L., M.P.M., C.H.) and Biostatistics and Computational Biology (M.P.M.), University of Rochester, NY; Department of Medical Genetics (C.G.), Indiana University, Indianapolis; Department of Neurology (M.H., N.J.), University of Utah, Salt Lake City; and Department of Neurology (J.T.K.), The Ohio State University Wexner Medical Center, Columbus. PMID: 30143566 DOI: 10.1212/WNL.0000000000006241

4. Brain Dev. 2018 Aug 6. pii: S0387-7604(18)30265-1. doi: 10.1016/j.braindev.2018.07.016. [Epub ahead of print] Incidence of infantile spinal muscular atrophy on Shikoku Island of Japan.

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Okamoto K1, Fukuda M2, Saito I3, Urate R4, Maniwa S5, Usui D6, Motoki T7, Jogamoto T7, Aibara K7, Hosokawa T8, Konishi Y9, Arakawa R10, Mori K11, Ishii E7, Saito K10, Nishio H12. 1Department of Pediatrics, Ehime University Graduate School of Medicine, Ehime, Japan; Department of Pediatrics, Ehime Prefectural Imabari Hospital, Ehime, Japan. Electronic address: [email protected]. 2Department of Pediatrics, Ehime University Graduate School of Medicine, Ehime, Japan; Department of Neuropediatrics, Tokyo Metropolitan Neurological Hospital, Tokyo, Japan. 3Department of Community Health Systems Nursing, Ehime University Graduate School of Medicine, Ehime, Japan. 4School of Medicine, Ehime University, Ehime, Japan. 5Department of Pediatrics, Matsuyama Red Cross Hospital, Ehime, Japan. 6Department of Pediatrics, Tano Hospital, Kochi, Japan. 7Department of Pediatrics, Ehime University Graduate School of Medicine, Ehime, Japan. 8Department of Pediatrics, Hosogi Hospital, Kochi, Japan; Department of Pediatrics, Kochi Medical School, Kochi, Japan. 9Department of Pediatrics, Faculty of Medicine, Kagawa University, Kagawa, Japan. 10Institute of Medical Genetics, Tokyo Women's Medical University, Tokyo, Japan. 11Department of Child Health & Nursing, Institute of Biomedical Sciences, Tokushima University Graduate School, Tokushima, Japan. 12Department of Occupational Therapy, Faculty of Rehabilitation, Kobe Gakuin University, Hyogo, Japan; Department of Community Medicine and Social Healthcare Science, Kobe University Graduate School of Medicine, Hyogo, Japan. KEYWORDS: Epidemiology; Incidence; Infantile SMA; Japan; Spinal muscular atrophy (SMA) PMID: 30093179 DOI: 10.1016/j.braindev.2018.07.016

5. Hum Mol Genet. 2018 Aug 21. doi: 10.1093/hmg/ddy300. [Epub ahead of print] A severe mouse model of spinal muscular atrophy develops early systemic inflammation. Wan B1,2, Feng P1,2, Guan Z1,2, Sheng L1,2, Liu Z3,4, Hua Y1,2. 1Jiangsu Key Laboratory of Neuropsychiatric Diseases, Department of Neurology and Suzhou Clinical Research Center of Neurological Disease, the Second Affiliated Hospital of Soochow University, 1055 Sanxiang Road, Suzhou 215004, China. 2Institute of Neuroscience, Soochow University, 199 Renai Road, Suzhou, Jiangsu 215123, China. 3School for Radiological and Interdisciplinary Sciences (RAD-X), Soochow University, 215123 Suzhou, P. R. China. 4Collaborative Innovation Center of Radiation Medicine of Jiangsu Higher Education Institutions, 199 Renai Road, Suzhou 215123, China. PMID: 30137324 DOI: 10.1093/hmg/ddy300

6. Med J Aust. 2018 Aug 20;209(4):147-148. Screening for spinal muscular atrophy. Sampaio H1, Wilcken B2, Farrar M2. 1Sydney Children's Hospital, Sydney, NSW [email protected]. 2Sydney Children's Hospital, Sydney, NSW. KEYWORDS: Neuromuscular diseases PMID: 30107765

7. Expert Opin Drug Discov. 2018 Aug 27:1-4. doi: 10.1080/17460441.2018.1514387. [Epub ahead of print] Future avenues for therapy development for spinal muscular atrophy. Groen EJN1. 1a Centre for Discovery Brain Sciences and Euan MacDonald Centre for Motor Neurone Disease Research , University of Edinburgh , Edinburgh , UK. KEYWORDS: Spinal muscular atrophy; gene therapy; motor neuron disease; survival motor neuron; therapy development PMID: 30124076 DOI: 10.1080/17460441.2018.1514387

8. Am J Phys Med Rehabil. 2018 Aug 23. doi: 10.1097/PHM.0000000000001022. [Epub ahead of print] Benefits of maxillary expansion for a patient with spinal muscular atrophy type 2.

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Abeleira MT1, Limeres J1, Outumuro M1, Vidal PS1, Diniz-Freitas M1, Ruíz-Piñón M2, Diz P1. 1Medical-Surgical Dentistry Research Group (OMEQUI), Health Research Institute of Santiago de Compostela (IDIS), University of Santiago de Compostela (USC), Santiago de Compostela, Spain. 2Operative Dentistry and Endodontics Unit, University of Santiago de Compostela, Santiago de Compostela, Spain. PMID: 30138129 DOI: 10.1097/PHM.0000000000001022

9. J Pediatr Orthop. 2018 Aug 21. doi: 10.1097/BPO.0000000000001247. [Epub ahead of print] Preliminary Safety and Tolerability of a Novel Subcutaneous Intrathecal Catheter System for Repeated Outpatient Dosing of Nusinersen to Children and Adults With Spinal Muscular Atrophy. Strauss KA1, Carson VJ1, Brigatti KW1, Young M1, Robinson DL1, Hendrickson C1, Fox MD2,3, Reed RM4, Puffenberger EG1, Mackenzie W2,5, Miller F2,5. 1Clinic for Special Children, Strasburg. 2Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE. 3Department of Pediatrics, Sidney Kimmel Medical College at Thomas Jefferson University. 4University of Maryland School of Medicine, Baltimore, MD. 5Department of Orthopedics, Sidney Kimmel Medical College at Thomas Jefferson University, Philadelphia, PA. PMID: 30134351 DOI: 10.1097/BPO.0000000000001247

10. Integr Biol (Camb). 2018 Aug 17. doi: 10.1039/c8ib00091c. [Epub ahead of print] Automated screening of C. elegans neurodegeneration mutants enabled by microfluidics and image analysis algorithms. de Carlos Cáceres I1, Porto DA1, Gallotta I2, Santonicola P3, Rodríguez-Cordero J4, Di Schiavi E5, Lu H6. 1Interdisciplinary Bioengineering Graduate Program, Georgia Institute of Technology, 311 Ferst Dr, Atlanta, USA. [email protected]. 2Institute of Genetics and Biophysics (IGB-ABT), CNR, Via Pietro Castellino 111, Naples, Italy. 3Institute of Bioscience and Bioresources (IBBR), CNR, Via Pietro Castellino 111, Naples, Italy. [email protected]. 4Electrical and Computer Engineering Department, University of Puerto Rico at Mayagüez, Mayagüez, Puerto Rico, USA. 5Institute of Genetics and Biophysics (IGB-ABT), CNR, Via Pietro Castellino 111, Naples, Italy and Institute of Bioscience and Bioresources (IBBR), CNR, Via Pietro Castellino 111, Naples, Italy. [email protected]. 6Interdisciplinary Bioengineering Graduate Program, Georgia Institute of Technology, 311 Ferst Dr, Atlanta, USA. [email protected] and School of Chemical & Biomolecular Engineering, Georgia Institute of Technology, 311 Ferst Dr, Atlanta, USA. PMID: 30116818 DOI: 10.1039/c8ib00091c

11. Folia Morphol (Warsz). 2018 Aug 14. doi: 10.5603/FM.a2018.0072. [Epub ahead of print] Evaluation of the role of an gene in NSC-34 motor neuron-like cells as a model of a motor neuron disease. Alrafiah AR1. 1Medical Laboratory Technology Department, Faculty of Applied Medical Sciences , King Abdul Aziz University, P.O Box 80200 Jeddah, 21589 Jeddah, Saudi Arabia. [email protected]. KEYWORDS: NSC-34 cells; lentiviral vectors; oxidative stress; plastin 3; spinal muscular atrophy PMID: 30106460 DOI: 10.5603/FM.a2018.0072 Free full text

12. Am J Med Genet A. 2018 Aug;176(8):1698-1699. doi: 10.1002/ajmg.a.40520. Nucleic Acid-Targeted Small Molecules have Therapeutic Potential in the Treatment of Spinal Muscular Atrophy: Small-molecule drugs that can selectively bind RNA and modulate pre-mRNA splicing have potential as a treatment strategy for human disease, including spinal muscular atrophy.

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[No authors listed] PMID: 30136439 DOI:10.1002/ajmg.a.40520

13. PLoS One. 2018 Aug 13;13(8):e0201764. doi: 10.1371/journal.pone.0201764. eCollection 2018. A new biomarker candidate for spinal muscular atrophy: Identification of a peripheral blood cell population capable of monitoring the level of survival motor neuron protein. Otsuki N1, Arakawa R1, Kaneko K2, Aoki R1, Arakawa M3, Saito K1,2. 1Institute of Medical Genetics, Tokyo Women's Medical University, 10-22 Kawadacho, Shinjuku-ku, Tokyo 162-0054, Japan. 2Affiliated Field of Medical Genetics, Division of Biomedical Engineering and Science, Graduate Course of Medicine, Graduate School of Tokyo Women's Medical University, 10-22 Kawadacho, Shinjuku-ku, Tokyo 162-0054, Japan. 3Laboratory of Virology, Institute of Microbial Chemistry, 5-14-23 Kamiosaki, Shinagawa-ku Tokyo 141-0021, Japan. PMID:30102724 PMCID: PMC6089418 DOI: 10.1371/journal.pone.0201764 Free PMC Article

14. Contemp Clin Trials Commun. 2018 Jul 20;11:113-119. doi: 10.1016/j.conctc.2018.07.002. eCollection 2018 Sep. Recruitment & retention program for the NeuroNEXT SMA Biomarker Study: Super Babies for SMA! Bartlett A1, Kolb SJ1,2, Kingsley A1, Swoboda KJ3,4,5, Reyna SP3,4,6, Sakonju A3,4,7, Darras BT5, Shell R8, Kuntz N9, Castro D10, Iannaccone ST10, Parsons J11, Connolly AM12, Chiriboga CA13, McDonald C14, Burnette WB15, Werner K16, Thangarajh M17, Shieh PB18, Finanger E19, Coffey CS20, Yankey JW20, Cudkowicz ME21, McGovern MM21, McNeil DE22,6, Arnold WD1,23, Kissel JT1; NeuroNEXT Clinical Trial Network and on behalf of the NN101 SMA Biomarker Investigators. 1Department of Neurology, The Ohio State University Wexner Medical Center, Columbus, OH, United States. 2Department of Biological Chemistry & Pharmacology, The Ohio State University Wexner Medical Center, Columbus, OH, United States. 3Department of Neurology, University of Utah, Salt Lake City, UT, United States. 4Department of Pediatrics, University of Utah, Salt Lake City, UT, United States. 5Department of Neurology, Boston Children's Hospital, Boston, MA, United States. 6Biogen, Boston, MA, United States. 7SUNY Upstate Medical Center, Syracuse, NY, United States. 8Nationwide Children's Hospital, Columbus, OH, United States. 9Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, United States. 10UT Southwestern Medical Center, Dallas, TX, United States. 11Children's Hospital Colorado, University of Colorado School of Medicine, Aurora, CO, United States. 12Washington University School of Medicine in St. Louis, St. Louis, MO, United States. 13Department of Neurology, Columbia College of Physicians and Surgeons, New York, NY, United States. 14University of California - Davis, Davis, CA, United States. 15Vanderbilt University, Nashville, TN, United States. 16Duke University Medical Center, Durham, NC, United States. 17Children's National Medical Center, Washington, DC, United States. 18University of California - Los Angeles, Los Angeles, CA, United States. 19Dorenbecher Children's Hospital, Portland, OR, United States. 20Department of Biostatistics, NeuroNEXT Data Coordinating Center, University of Iowa, Iowa City, IA, United States. 21Department of Neurology, NeuroNEXT Clinical Coordinating Center, Massachusetts General Hospital, Boston, MA, United States. 22National Institute of Neurological Disorders and , Bethesda, MD, United States. 23Department of Physical Medical and Rehabilitation, The Ohio State University Wexner Medical Center, Columbus, OH, United States. KEYWORDS: Altruism; Healthy controls; Network; Social media; Spinal muscle atrophy PMID: 30094386 PMCID: PMC6072892 DOI: 10.1016/j.conctc.2018.07.002 Free PMC Article

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15. Nat Biotechnol. 2018 Aug 6;36(8):669-670. doi: 10.1038/nbt0818-669. Gene therapy rescues newborns with spinal muscular atrophy. Sheridan C. PMID: 30080825 DOI: 10.1038/nbt0818-669

Canalopathies musculaires – Muscular channelopathies 16. J Pediatr Neurosci. 2018 Apr-Jun;13(2):218-220. doi: 10.4103/jpn.JPN_44_17. Phenotypical Variation with Same Genetic Mutation in Familial Hypokalemic . Kumar S1, Offiong EE2, Sangita S1, Hussain N1. 1Royal College of Pediatrics and Child Health, London, United Kingdom. 2University of Lagos, Lagos, Nigeria. KEYWORDS: CACNA1S; hypokalemic; paralysis; periodic; phenotypic PMID: 30090141 PMCID:PMC6057184 DOI:10.4103/jpn.JPN_44_17 Free PMC Article

Maladie de Charcot-Marie-Tooth – Charcot-Marie-Tooth disease 17. J Cell Biol. 2018 Aug 20. pii: jcb.201801085. doi: 10.1083/jcb.201801085. [Epub ahead of print] KIF1Bβ mutations detected in hereditary neuropathy impair IGF1R transport and axon growth. Xu F1, Takahashi H1, Tanaka Y1, Ichinose S1, Niwa S1, Wicklund MP2, Hirokawa N3,4. 1Department of Cell Biology and Anatomy, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan. 2Department of Neurology, Penn State Hershey Medical Center, Hershey, PA. 3Department of Cell Biology and Anatomy, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan [email protected]. 4Center of Excellence in Medicine Research, King Abdulaziz University, Jeddah, Saudi Arabia. PMID: 30126838 DOI: 10.1083/jcb.201801085

18. Neurology. 2018 Aug 17. pii: 10.1212/WNL.0000000000006214. doi: 10.1212/WNL.0000000000006214. [Epub ahead of print] Validation of MRC Centre MRI calf muscle fat fraction protocol as an outcome measure in CMT1A. Morrow JM1, Evans MRB1, Grider T1, Sinclair CDJ1, Thedens D1, Shah S1, Yousry TA1, Hanna MG1, Nopoulos P1, Thornton JS1, Shy ME1, Reilly MM2. 1From the MRC Centre for Neuromuscular Diseases (J.M.M., M.R.B.E., C.D.J.S., T.A.Y., M.G.H., J.S.T., M.M.R.) and Neuroradiological Academic Unit (S.S.), UCL Institute of Neurology, London, UK; Carver College of Medicine (T.G., P.N., M.E.S.) and Department of Radiology (D.T.), University of Iowa, Iowa City. 2From the MRC Centre for Neuromuscular Diseases (J.M.M., M.R.B.E., C.D.J.S., T.A.Y., M.G.H., J.S.T., M.M.R.) and Neuroradiological Academic Unit (S.S.), UCL Institute of Neurology, London, UK; Carver College of Medicine (T.G., P.N., M.E.S.) and Department of Radiology (D.T.), University of Iowa, Iowa City. [email protected]. PMID: 30120135 DOI: 10.1212/WNL.0000000000006214

19. Hum Mol Genet. 2018 Aug 14. doi: 10.1093/hmg/ddy290. [Epub ahead of print] Hypermorphic and hypomorphic AARS alleles in patients with CMT2N expand clinical and molecular heterogeneities. Weterman MAJ1, Kuo M2,3, Kenter SB4, Gordillo S4, Karjosukarso DW4, Takase R5, Bronk M4, Oprescu S6, Ruissen F4, Witteveen RJW7, Bienfait HME8, Breuning M1, Verhamme C9, Hou YM5, Visser M9, Antonellis A2,6,10, Baas F1. 1Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands. 2Cellular and Molecular Biology Program, University of Michigan Medical School, Ann Arbor, Michigan, USA. 3Medical Scientist Training Program, University of Michigan Medical School, Ann Arbor, Michigan, USA.

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4Department of Clinical Genetics and Genome Analysis AMC, Amsterdam, the Netherlands. 5Department of Biochemistry and Molecular Biology, Thomas Jefferson University, Philadelphia USA. 6Department of Human Genetics, University of Michigan Medical School, Ann Arbor, Michigan, USA. 7Department of Neurology, Alrijne Hospital, Leiden, the Netherlands. 8Department of Neurology, Spaarne Gasthuis, Haarlem, the Netherlands. 9Department of Neurology, Academic Medical Center, Amsterdam, the Netherlands. 10Department of Neurology, University of Michigan Medical School, Ann Arbor, Michigan, USA. PMID: 30124830 DOI:10.1093/hmg/ddy290

20. Int J Mol Sci. 2018 Aug 14;19(8). pii: E2393. doi: 10.3390/ijms19082393. Differentiation of Human Tonsil-Derived Mesenchymal Stem Cells into Schwann-Like Cells Improves Neuromuscular Function in a Mouse Model of Charcot-Marie-Tooth Disease Type 1A. Park S1, Jung N2, Myung S3, Choi Y4, Chung KW5, Choi BO6, Jung SC7. 1Department of Biochemistry, College of Medicine, Ewha Womans University, Seoul 07985, Korea. [email protected]. 2Department of Biochemistry, College of Medicine, Ewha Womans University, Seoul 07985, Korea. [email protected]. 3Department of Biochemistry, College of Medicine, Ewha Womans University, Seoul 07985, Korea. [email protected]. 4Department of Biochemistry, College of Medicine, Ewha Womans University, Seoul 07985, Korea. [email protected]. 5Department of Biological Sciences, Kongju National University, Gongju 32588, Korea. [email protected]. 6Department of Neurology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul 06351, Korea. [email protected]. 7Department of Biochemistry, College of Medicine, Ewha Womans University, Seoul 07985, Korea. [email protected]. KEYWORDS: Charcot-Marie-Tooth disease type 1A; Schwann cells; neuromuscular regeneration; remyelination; tonsil-derived mesenchymal stem cells PMID: 30110925 DOI:10.3390/ijms19082393 Free full text

21. Arch Dis Child. 2018 Aug 13. pii: archdischild-2018-314890. doi: 10.1136/archdischild-2018-314890. [Epub ahead of print] Falls in paediatric Charcot-Marie-Tooth disease: a 6-month prospective cohort study. Kennedy RA1,2,3, Carroll K1,3, Hepworth G4, Paterson KL2, Ryan MM1,3,5, McGinley JL2,3. 1Neurology Department, The Royal Children's Hospital, Parkville, Victoria, Australia. 2Physiotherapy Department, The University of Melbourne, Parkville, Victoria, Australia. 3Murdoch Children's Research Institute, Parkville, Victoria, Australia. 4Statistical Consulting Centre, The University of Melbourne, Parkville, Victoria, Australia. 5Department of Paediatrics, The University of Melbourne, Parkville, Victoria, Australia. KEYWORDS: charcot-marie-tooth disease; comm child health; falls; ; paediatrics PMID: 30104392 DOI:10.1136/archdischild-2018-314890

22. Neurol Clin Pract. 2018 Aug;8(4):318-326. doi: 10.1212/CPJ.0000000000000488. Diagnoses and other predictors of patient absenteeism in an outpatient neurology clinic. Do DH1, Siegler JE1. 1Department of Neurology, Hospital of the University of Pennsylvania, Philadelphia. PMID: 30140583 PMCID:PMC6105067 [Available on 2019-08-01] DOI: 10.1212/CPJ.0000000000000488

23. J Biophotonics. 2018 Aug 9:e201800186. doi: 10.1002/jbio.201800186. [Epub ahead of print] Label-free non-linear microscopy to measure myelin outcome in a rodent model of Charcot-Marie-Tooth diseases. Hajjar H1, Boukhaddaoui H1,2, Rizgui A1, Sar C1,2, Berthelot J1, Perrin-Tricaud C1, Rigneault H3, Tricaud N1. 1Institut des Neurosciences de Montpellier, Université de Montpellier, Montpellier, France. 2Montpellier Ressources Imagerie (MRI), Montpellier, France. 3CNRS, École Centrale Marseille, Institut Fresnel, Aix-Marseille Université, Marseille, France. KEYWORDS: Schwann cells; demyelinating diseases; myelin sheath; non-linear optical microscopy; peripheral

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PMID: 30091529 DOI:10.1002/jbio.201800186

24. Brain. 2018 Sep 1;141(9):e70. doi: 10.1093/brain/awy207. The classification of Charcot-Marie-Tooth diseases, a never-ending story: CMT4? Vallat JM1,2, Tazir M3, Magy L1,2, Le Masson G4,5, Mathis S4,5. 1Department of Neurology, University Hospital Dupuytren, 2 avenue Martin Luther King, Limoges, France. 2National reference center 'neuropathies périphériques rares', University Hospital Dupuytren, 2 avenue Martin Luther King, Limoges, France. 3Department of Neurology, University Hospital Mustapha Bacha, Algiers, Algeria. 4Department of Neurology, Nerve-Muscle Unit, CHU Bordeaux (Pellegrin University Hospital), University of Bordeaux, Place Amélie Raba-Léon, Bordeaux, France. 5National reference center 'maladies neuromusculaires du grand sud-ouest', CHU Bordeaux (Pellegrin University Hospital), University of Bordeaux, Place Amélie Raba-Léon, Bordeaux, France. PMID: 30084872 DOI:10.1093/brain/awy207

25. Brain. 2018 Sep 1;141(9):e71. doi: 10.1093/brain/awy208. Reply: The classification of Charcot-Marie-Tooth diseases, a never-ending story: CMT4? Shy ME1. 1Department of Neurology, Carver College of Medicine, University of Iowa, 200 Hawkins Drive, Iowa City Iowa, USA. PMID: 30084871 DOI:10.1093/brain/awy208

26. Front Neurol. 2018 Jul 23;9:571. doi: 10.3389/fneur.2018.00571. eCollection 2018. A Novel Mutation of GARS in a Chinese Family With Distal Hereditary Motor Neuropathy Type V. Yu X1, Chen B1, Tang H1, Li W1, Fu Y2, Zhang Z1, Yan Y2. 1Department of Neurology, China National Clinical Research Center for Neurological Diseases, Beijing Tiantan Hospital, Capital Medical University, Beijing, China. 2Key Laboratory of the Ministry of Education for Medicinal Resources and Natural Pharmaceutical Chemistry, National Engineering Laboratory for Resource Development of Endangered Crude Drugs in Northwest of China, College of Life Sciences, Shaanxi Normal University, Xi'an, China. KEYWORDS: CMT2D; GARS gene; Novel mutation; dHMN-V; silico analysis PMID: 30083128 PMCID:PMC6064823 DOI: 10.3389/fneur.2018.00571 Free PMC Article

Dystrophies musculaires congénitales – Congenital muscular dystrophies 27. Brain Dev. 2018 Aug 1. pii: S0387-7604(18)30343-7. doi: 10.1016/j.braindev.2018.07.012. [Epub ahead of print] Renal dysfunction is rare in Fukuyama congenital muscular dystrophy. Ishigaki K1, Kato I2, Murakami T2, Sato T2, Shichiji M2, Ishiguro K2, Ishizuka K3, Funatsuka M2, Saito K4, Osawa M2, Nagata S2. 1Department of Pediatrics, Tokyo Women's Medical University, School of Medicine, Tokyo, Japan. Electronic address: [email protected]. 2Department of Pediatrics, Tokyo Women's Medical University, School of Medicine, Tokyo, Japan. 3Department of Pediatric Nephrology, Tokyo Women's Medical University, School of Medicine, Tokyo, Japan. 4Institute of Medical Genetics, Tokyo Women's Medical University, School of Medicine, Tokyo, Japan. KEYWORDS: ACE inhibitor; Creatinine; Cystatin C; Fanconi syndrome; Fukuyama congenital muscular dystrophy; Renal dysfunction PMID: 30077507 DOI: 10.1016/j.braindev.2018.07.012

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28. Neuromuscul Disord. 2018 Jul 19. pii: S0960-8966(18)30502-9. doi: 10.1016/j.nmd.2018.07.001. [Epub ahead of print] Steroid therapy in an alpha-dystroglycanopathy due to GMPPB gene mutations: A case report. Fecarotta S1, Gragnaniello V1, Della Casa R1, Romano A1, Raiano E2, Torella A3, Savarese M4, Nigro V3, Strisciuglio P1, Andria G1, Parenti G5. 1Department of Translational Medical Sciences, Federico II University, Naples, Italy. 2Department of Public Health, Rehabilitation Unit, Federico II University, Naples, Italy. 3Department of Precision Medicine, University of Campania 'Luigi Vanvitelli', Naples, Italy; Telethon Institute of Genetics and Medicine, Pozzuoli, Italy. 4Department of Precision Medicine, University of Campania 'Luigi Vanvitelli', Naples, Italy; Folkhälsan Research Center, Medicum, University of Helsinki, Helsinki, Finland. 5Department of Translational Medical Sciences, Federico II University, Naples, Italy; Telethon Institute of Genetics and Medicine, Pozzuoli, Italy. Electronic address: [email protected]. KEYWORDS: Alpha-dystroglycanopathy; Congenital muscular dystrophy; Corticosteroid therapy; GMPPB PMID: 30126629 DOI:10.1016/j.nmd.2018.07.001

29. Hum Genome Var. 2018 Jul 20;5:19. doi: 10.1038/s41439-018-0018-6. eCollection 2018. A novel LMNA mutation identified in a Japanese patient with LMNA-associated congenital muscular dystrophy. Ishiyama A1,2, Iida A3, Hayashi S2, Komaki H1, Sasaki M1, Nonaka I2, Noguchi S2, Nishino I2,3. 1Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Tokyo, Japan. 2Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan. 3Department of Clinical Genome Analysis, Medical Genome Center, National Center of Neurology and Psychiatry, Tokyo, Japan. PMID: 30083363 PMCID: PMC6054619 DOI: 10.1038/s41439-018-0018-6 Free PMC Article

Dystrophies musculaires des ceintures – Limb-girdle muscular dystrophies 30. Chin Med J (Engl). 2018 Sep 5;131(17):2133-2134. doi: 10.4103/0366-6999.239307. Limb-girdle Muscular Dystrophy Type 2A with Muscular Eosinophilic Infiltration in a Chinese Patient. Luo YB1, Li QX1, Duan HQ1, Bi FF1, Yang H1. 1Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan 410008, China. PMID: 30127231 DOI:10.4103/0366-6999.239307 Free full text

31. Orphanet J Rare Dis. 2018 Aug 14;13(1):133. doi: 10.1186/s13023-018-0859-6. The clinical spectrum and genetic variability of limb-girdle muscular dystrophy in a cohort of Chinese patients. Wang L1, Zhang VW2,3, Li S3, Li H1, Sun Y4, Li J1, Zhu Y1, He R1, Lin J1, Zhang C5. 1Department of Neurology, National Key Clinical Department and Key Discipline of Neurology, The First Affiliated Hospital, Sun Yat-sen University, 58 Zhongshan 2 Road, Guangzhou, 510080, GD, China. 2Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA. 3AmCare Genomics Lab, Guangzhou, 510300, GD, China. 4Department of Health Care, The First Affiliated Hospital, Sun Yat-sen University, Guangzhou, 510080, GD, China. 5Department of Neurology, National Key Clinical Department and Key Discipline of Neurology, The First Affiliated Hospital, Sun Yat-sen University, 58 Zhongshan 2 Road, Guangzhou, 510080, GD, China. [email protected]. KEYWORDS: Clinical manifestation; Limb-girdle muscular dystrophy; Molecular diagnosis; Muscle magnetic resonance imaging; South China

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PMID: 30107846 PMCID: PMC6092860 DOI: 10.1186/s13023-018-0859-6 Free PMC Article

32. Expert Rev Neurother. 2018 Sep;18(9):693-703. doi: 10.1080/14737175.2018.1508997. Epub 2018 Aug 21. An update on diagnostic options and considerations in limb-girdle dystrophies. Angelini C1, Giaretta L1, Marozzo R1. 1a Neuromuscular Center , San Camillo Hospital IRCCS , Venice , Italy. KEYWORDS: Limb-girdle muscular dystrophy; ; dysferlinopathy; sarcoglycanopathy; transportinopathy PMID: 30084281 DOI:10.1080/14737175.2018.1508997

33. Case Rep Genet. 2018 Jul 16;2018:8090797. doi: 10.1155/2018/8090797. eCollection 2018. Novel TRAPPC11 Mutations in a Chinese Pedigree of Limb Girdle Muscular Dystrophy. Wang X1, Wu Y1, Cui Y1, Wang N1, Folkersen L2, Wang Y1. 1Department of Pediatrics, Guizhou Provincial People's Hospital, Guiyang, Guizhou 559992, China. 2Sankt Hans Hospital, Capital Region Denmark, Roskilde 4000, Denmark. PMID: 30105108 PMCID:PMC6076900 DOI: 10.1155/2018/8090797 Free PMC Article

Dystrophinopathies, dystrophie musculaire de Duchenne, dystrophie musculaire de Becker – Dystrophinopathies 34. Nat Commun. 2018 Aug 24;9(1):3431. doi: 10.1038/s41467-018-05910-1. NF-κB inhibition rescues cardiac function by remodeling calcium genes in a Duchenne muscular dystrophy model. Peterson JM1,2,3,4, Wang DJ1,3,5, Shettigar V2,3,6, Roof SR2,3,6,7, Canan BD2,3,6, Bakkar N1,2,3,8, Shintaku J1,2,3,9, Gu JM1,2,3,10, Little SC2,3,6,11, Ratnam NM1,3, Londhe P1,2,3,12, Lu L13,14, Gaw CE3,15, Petrosino JM2,3, Liyanarachchi S1,3, Wang H13, Janssen PML2,3,6, Davis JP2,3,6, Ziolo MT2,3,6, Sharma SM16, Guttridge DC17,18,19,20. 1Department of Cancer Biology and Genetics, Columbus, OH, 43210, USA. 2Center for Muscle Health and Neuromuscular Disorders, Columbus, OH, 43210, USA. 3The Ohio State University Medical Center, Columbus, OH, 43210, USA. 4Department of Pharmacy and Pharmaceutical Sciences, SUNY Binghamton University, Binghamton, NY, 13902, USA. 5Department of Pediatrics, Medical University of South Carolina, Charleston, South Carolina, 29425, USA. 6Department of Physiology and Cell Biology, The Ohio State University Medical Center, Columbus, 43210, Ohio, USA. 7Q Test Labs, Columbus, OH, 43235, USA. 8Department of Neurobiology, St Joseph's Hospital and Medical Center-Barrow Neurological Institute, Phoenix, AZ, 85013, USA. 9Department of Neurology, Columbia University Medical Center, New York, NY, 10032, USA. 10Department of Biomedical Engineering and Pediatrics, Emory University, Decatur, GA, 30322, USA. 11Bristol-Myers Squibb, Wallingford, CT, 06492, USA. 12Molecular Oncology Research Institute, Tufts Medical Center, Boston, MA, 02111, USA. 13Li Ka Shing Institute of Health Sciences, The Chinese University of Hong Kong, Hong Kong, China. 14Department of Genetics and Genome Sciences, Case Western Reserve University, Cleveland, OH, 44106, USA. 15Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA. 16Department of Biochemistry and Molecular Biology, Medical University of South Carolina, Charleston, SC, 29425, USA. 17Department of Cancer Biology and Genetics, Columbus, OH, 43210, USA. [email protected]. 18Center for Muscle Health and Neuromuscular Disorders, Columbus, OH, 43210, USA. [email protected]. 19The Ohio State University Medical Center, Columbus, OH, 43210, USA. [email protected]. 20Department of Pediatrics, Medical University of South Carolina, Charleston, South Carolina, 29425, USA. [email protected]. PMID: 30143619 PMCID: PMC6109146 DOI: 10.1038/s41467-018-05910-1 Free PMC Article

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35. J Biol Chem. 2018 Aug 23. pii: jbc.RA118.004417. doi: 10.1074/jbc.RA118.004417. [Epub ahead of print] Biological scaffold-mediated delivery of myostatin inhibitor promotes a regenerative immune response in an animal model of Duchenne muscular dystrophy. Estrellas KM1, Chung L2, Cheu LA2, Sadtler K2, Majumdar S2, Mula J2, Wolf MT2, Elisseeff JH2, Wagner KR3. 1Kennedy Krieger Institute, United States. 2Johns Hopkins University School of Medicine, United States. 3Kennedy Krieger Institute, Johns Hopkins School of Medicine, United States. KEYWORDS: biomaterials; cytokine; immunology; muscle; muscle regeneration; muscular dystrophy; myostatin PMID: 30139748 DOI: 10.1074/jbc.RA118.004417 Free full text

36. Neurology. 2018 Aug 22. pii: 10.1212/WNL.0000000000006245. doi: 10.1212/WNL.0000000000006245. [Epub ahead of print] The relationship between deficit in digit span and genotype in nonsense mutation Duchenne muscular dystrophy. Thangarajh M1, Elfring GL2, Trifillis P2, McIntosh J2, Peltz SW2; Ataluren Phase 2b Study Group. Collaborators (143) 1From the Children's National Health System (M.T.), Washington, DC; and PTC Therapeutics Inc. (G.L.E., P.T., J.M., S.W.P.), South Plainfield, NJ. [email protected]. 2From the Children's National Health System (M.T.), Washington, DC; and PTC Therapeutics Inc. (G.L.E., P.T., J.M., S.W.P.), South Plainfield, NJ. PMID: 30135256 DOI:10.1212/WNL.0000000000006245

37. Am J Pathol. 2018 Aug 21. pii: S0002-9440(18)30023-3. doi: 10.1016/j.ajpath.2018.07.015. [Epub ahead of print] Improvement of dystrophic muscle fragility by short-term voluntary exercise through activation of calcineurin pathway in mdx mice. Delacroix C1, Hyzewicz J2, Lemaitre M1, Friguet B2, Li Z2, Klein A1, Furling D1, Agbulut O2, Ferry A3. 1- Sorbonne Université, Inserm, Association Institut de Myologie, Centre de Recherche en Myologie, UMRS974, F-75013 Paris, France. 2- Sorbonne Université, Institut de Biologie Paris-Seine, UMR CNRS 8256, Inserm ERL U1164, Biological Adaptation and Ageing, 75005, Paris, France. 3- Sorbonne Université, Inserm, Association Institut de Myologie, Centre de Recherche en Myologie, UMRS974, F-75013 Paris, France; - Sorbonne Paris Cité, Université Paris Descartes, Paris, F-75006 France. Electronic address: [email protected]. PMID: 30142334 DOI:10.1016/j.ajpath.2018.07.015

38. Hum Mol Genet. 2018 Aug 21. doi: 10.1093/hmg/ddy302. [Epub ahead of print] Sarcolipin deletion in mdx mice impairs calcineurin signalling and worsens dystrophic pathology. Fajardo VA1,2, Chambers PJ1, Juracic ES1, Rietze BA1, Gamu D1, Bellissimo C, Kwon F1, Quadrilatero J1, Russell Tupling A1. 1Department of Kinesiology, University of Waterloo, Waterloo, ON, Canada, N2L 3G1 and. 2Current: Department of Kinesiology, Brock University, St. Catharines, ON, Canada L2S 3A1. PMID: 30137316 DOI:10.1093/hmg/ddy302

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39. Acta Paediatr. 2018 Aug 17. doi: 10.1111/apa.14537. [Epub ahead of print] Parent-child communication and timing of interventions are challenges in the Duchenne muscular dystrophy care. Saetrang T1,2, Bjørk IT3, Capjon H2, Rasmussen M1,2. 1Department of Clinical Neurosciences for Children, Oslo University Hospital, Oslo, Norway. 2Unit for Inborn and Hereditary Neuromuscular Disorders (EMAN), Department of Neurology, Oslo University Hospital, Oslo, Norway. 3Department of Nursing Science, University of Oslo, Oslo, Norway. KEYWORDS: Communication; Duchenne muscular dystrophy; Parental perspective; Professional competence; Professional-family relations PMID: 30118557 DOI:10.1111/apa.14537

40. Am J Physiol Heart Circ Physiol. 2018 Aug 17. doi: 10.1152/ajpheart.00341.2018. [Epub ahead of print] Exacerbation of dystrophic cardiomyopathy by phospholamban deficiency-mediated chronically increased cardiac Ca2+ cycling in vivo. Law ML1, Prins KW2, Olander ME1, Metzger JM3. 1Department of Integrative Biology and Physiology, University of Minnesota. 2Department of Medicine, University of Minnesota. 3Department of Integrative Biology and Physiology, University of Minnesota, United States. KEYWORDS: Duchenne muscular dystrophy; calcium; ; heart; mdx PMID: 30118340 DOI:10.1152/ajpheart.00341.2018

41. BMC Musculoskelet Disord. 2018 Aug 16;19(1):287. doi: 10.1186/s12891-018-2212-6. Lower extremity joint contracture according to ambulatory status in children with Duchenne muscular dystrophy. Choi YA1, Chun SM2, Kim Y3, Shin HI4. 1Department of Rehabilitation Medicine, National Traffic Injury Rehabilitation Hospital, 260, Jungang-ro, Yangpyeong-eup, Yangpyeong-gun, Gyeonggi-do, 12564, Republic of Korea. 2Department of Rehabilitation Medicine, Purme Foundation NEXON Children's Rehabilitation Hospital, 494 World-Cup Buk-ro, Mapo-gu, Seoul, 03918, Republic of Korea. 3Department of Rehabilitation Medicine, Seoul National University Hospital, 101 Daehak-ro, Jongno-gu, Seoul, 03080, Republic of Korea. 4Department of Rehabilitation Medicine, Seoul National University Hospital, 101 Daehak-ro, Jongno-gu, Seoul, 03080, Republic of Korea. [email protected]. KEYWORDS: Contracture; Corticosteroid; Duchenne muscular dystrophy; Neuromuscular disease; Stretching PMID: 30111310 PMCID:PMC6094451 DOI:10.1186/s12891-018-2212-6 Free PMC Article

42. Int J Cardiovasc Imaging. 2018 Aug 13. doi: 10.1007/s10554-018-1436-8. [Epub ahead of print] Initial application of three-dimensional speckle-tracking echocardiography to detect subclinical left ventricular dysfunction and stratify cardiomyopathy associated with Duchenne muscular dystrophy in children. Yu HK1, Xia B2, Liu X1, Han C3, Chen W1, Li Z1. 1Department of Ultrasonography, Shenzhen Children's Hospital, 7019, Yitian Road, Shenzhen, Guangdong, China. 2Department of Ultrasonography, Shenzhen Children's Hospital, 7019, Yitian Road, Shenzhen, Guangdong, China. [email protected]. 3Laboratory of Neuromuscular Disease, Shenzhen Children's Hospital, Shenzhen, Guangdong, China. KEYWORDS: Area strain; Cardiomyopathy; Children; Duchenne muscular dystrophy; Three-dimensional speckle-tracking echocardiography PMID:30105418 DOI: 10.1007/s10554-018-1436-8

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43. J Clin Densitom. 2018 Jul 20. pii: S1094-6950(18)30066-0. doi: 10.1016/j.jocd.2018.07.006. [Epub ahead of print] Effects of Traction on Interpretation of Lumbar Bone Mineral Density in Patients with Duchenne Muscular Dystrophy: A New Measurement Method and Diagnostic Criteria Based on Comparison of Dual-Energy X- Ray Absorptiometry and Quantitative Computed Tomography. Lee JS1, Kim K2, Jeon YK3, Kim J4, Jung DH1, Kim SH1, Shin MJ1, Shin YB5. 1Department of Rehabilitation Medicine, Pusan National University School of Medicine and Biomedical Research Institute, Pusan National University Hospital, South Korea. 2Department of Nuclear Medicine and Biomedical Research Institute, Pusan National University Hospital, South Korea. 3Division of Endocrinology, Department of Internal Medicine, Pusan National University Hospital, Pusan National University School of Medicine, Busan, South Korea; Medical Research Institute, Pusan National University, Busan, South Korea. 4Department of Biostatistics, Clinical Trial Center, Biomedical Research Institute, Pusan National University Hospital, South Korea. 5Department of Rehabilitation Medicine, Pusan National University School of Medicine and Biomedical Research Institute, Pusan National University Hospital, South Korea. Electronic address: [email protected]. KEYWORDS: Bone density; dual-energy X-ray absorptiometry; duchenne muscular dystrophy; quantitative computed tomography; scoliosis PMID: 30143440 DOI:10.1016/j.jocd.2018.07.006

44. Ann Clin Transl Neurol. 2018 Jul 11;5(8):913-926. doi: 10.1002/acn3.579. eCollection 2018 Aug. Placebo-controlled Phase 2 Trial of Drisapersen for Duchenne Muscular Dystrophy. McDonald CM1, Wong B2, Flanigan KM3, Wilson R4, de Kimpe S5, Lourbakos A5, Lin Z5, Campion G5; DEMAND V study group. Collaborators (14) 1University of California, Davis Sacramento California. 2Cincinnati Children's Hospital Cincinnati Ohio. 3Nationwide Children's Hospital Columbus Ohio. 4Spica Consultants Ltd Marlborough United Kingdom. 5BioMarin Nederland B.V. Leiden The Netherlands. PMID: 30128316 PMCID:PMC6093847 DOI:10.1002/acn3.579 Free PMC Article

45. Neuromuscul Disord. 2018 Jun 6. pii: S0960-8966(17)31343-3. doi: 10.1016/j.nmd.2018.05.011. [Epub ahead of print] Imaging the heart to detect cardiomyopathy in Duchenne muscular dystrophy: A review. Power LC1, O'Grady GL2, Hornung TS3, Jefferies C4, Gusso S5, Hofman PL6. 1Paediatric Neurology Department, Starship Children's Hospital, Auckland, New Zealand; Paediatric Endocrinology Department, Starship Children's Hospital, Auckland, New Zealand; Liggins Institute, University of Auckland, Auckland, New Zealand. 2Paediatric Neurology Department, Starship Children's Hospital, Auckland, New Zealand. Electronic address: [email protected]. 3Paediatric Cardiology Department, Starship Children's Hospital, Auckland, New Zealand. 4Paediatric Endocrinology Department, Starship Children's Hospital, Auckland, New Zealand. 5Liggins Institute, University of Auckland, Auckland, New Zealand. 6Paediatric Endocrinology Department, Starship Children's Hospital, Auckland, New Zealand; Liggins Institute, University of Auckland, Auckland, New Zealand. KEYWORDS: Cardiac magnetic resonance imaging; Cardiomyopathy; Duchenne muscular dystrophy; Heart failure; Transthoracic echocardiography PMID: 30119965 DOI:10.1016/j.nmd.2018.05.011

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46. J Perinat Med. 2018 Aug 11. pii: /j/jpme.ahead-of-print/jpm-2018-0169/jpm-2018-0169.xml. doi: 10.1515/jpm-2018-0169. [Epub ahead of print] Prediction of postnatal developmental disabilities using the antenatal fetal neurodevelopmental test: KANET assessment. Hata T1, Kanenishi K1, Mori N1, AboEllail MAM1, Hanaoka U1, Koyano K2, Kato I2, Kusaka T2. 1Department of Perinatology and Gynecology, Kagawa University Graduate School of Medicine, Miki, Kagawa, Japan. 2Department of Pediatrics, Kagawa University Graduate School of Medicine, Miki, Kagawa, Japan. KEYWORDS: 4D Ultrasound; KANET; antenatal fetal neurodevelopmental test; autism spectrum disorder; cerebral palsy; developmental disability PMID:30098288 DOI:10.1515/jpm-2018-0169

47. Mol Ther. 2018 Jul 17. pii: S1525-0016(18)30336-8. doi: 10.1016/j.ymthe.2018.07.011. [Epub ahead of print] Systemic AAV Micro-dystrophin Gene Therapy for Duchenne Muscular Dystrophy. Duan D1. 1Department of Molecular Microbiology and Immunology, School of Medicine, University of Missouri, Columbia, MO 65212, USA; Department of Biomedical Sciences, College of Veterinary Medicine, University of Missouri, Columbia, MO 65211, USA; Department of Neurology, School of Medicine, University of Missouri, Columbia, MO 65212, USA; Department of Bioengineering, University of Missouri, Columbia, MO 65212, USA. Electronic address: [email protected]. KEYWORDS: AAV; BMD; Becker muscular dystrophy; DMD; Duchenne muscular dystrophy; adeno-associated virus; clinical trial; dystrophin; micro-dystrophin; systemic gene therapy PMID:30093306 DOI:10.1016/j.ymthe.2018.07.011 Free full text

48. Hum Mol Genet. 2018 Aug 2. doi: 10.1093/hmg/ddy288. [Epub ahead of print] Targeting RAGE as a potential therapeutic approach to Duchenne muscular dystrophy. Sagheddu R1,2, Chiappalupi S1,2, Salvadori L1,2, Riuzzi F1,2, Donato R1,2,3, Sorci G1,2. 1Department of Experimental Medicine, University of Perugia, Perugia 06132, Italy. 2Interuniversity Institute of Myology (IIM). 3Centro Universitario di Ricerca sulla Genomica Funzionale. PMID:30085099 DOI:10.1093/hmg/ddy288

49. Cardiovasc Pathol. 2018 Jul 26;36:64-70. doi: 10.1016/j.carpath.2018.07.002. [Epub ahead of print] A novel mutation of dystrophin in a Becker muscular dystrophy family with severe cardiac involvement: from genetics to clinicopathology. Chen L1, Ren J1, Chen X1, Chen K1, Rao M1, Zhang N1, Yu W1, Song J2. 1State Key Laboratory of Cardiovascular Disease, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College. 2State Key Laboratory of Cardiovascular Disease, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College. Electronic address: [email protected]. KEYWORDS: BMD; Cardiomyopathy; Dystrophin; Fibrofatty replacement PMID: 30103083 DOI:10.1016/j.carpath.2018.07.002

50. IEEE Trans Neural Syst Rehabil Eng. 2018 Aug 23. doi: 10.1109/TNSRE.2018.2866956. [Epub ahead of print] Evaluation of Control Interfaces for Active Trunk Support.

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Verros S, Mahmood N, Peeters L, Lobo-Prat J, Bergsma A, Hekman E, Verkerke GJ, Koopman B. PMID:30137011 DOI:10.1109/TNSRE.2018.2866956

51. J Clin Densitom. 2018 Jun 30. pii: S1094-6950(18)30075-1. doi: 10.1016/j.jocd.2018.06.006. [Epub ahead of print] Feasibility of Dual Energy X-Ray Absorptiometry Based Images for Measurement of Height, Sitting Height, and Leg Length in Children. Capaldi N1, Kao KT2, MacDonald R1, Grainger KC3, Joseph S4, Shepherd S2, Mason A2, Wong SC5. 1School of Medicine, University of Glasgow, Glasgow, United Kingdom; Developmental Endocrinology Research Group, Royal Hospital for Children, Glasgow. 2Developmental Endocrinology Research Group, Royal Hospital for Children, Glasgow. 3Department of Sports Science, London Metropolitan University, London. 4Developmental Endocrinology Research Group, Royal Hospital for Children, Glasgow; Paediatric Neurosciences Research Group, Royal Hospital for Children, Glasgow, United Kingdom. 5Developmental Endocrinology Research Group, Royal Hospital for Children, Glasgow. Electronic address: [email protected]. KEYWORDS: Bone mineral density; cerebral palsy; duchenne muscular dystrophy; height adjustment; immobility PMID: 30098887 DOI:10.1016/j.jocd.2018.06.006

52. Brain Behav. 2018 Jun;8(6):e00985. doi: 10.1002/brb3.985. Epub 2018 Apr 24. Altered somatosensory neurovascular response in patients with Becker muscular dystrophy. Lindberg U1,2, Kruuse C2,3, Witting N4, Jørgensen SL2,3, Vissing J4, Rostrup E1, Larsson HBW1,2. 1Functional Imaging Unit, Department of Clinical Physiology, Nuclear Medicine and PET, Rigshospitalet Glostrup, University of Copenhagen, Glostrup, Denmark. 2Lundbeck Foundation Center for Neurovascular signalling (LUCENS), Rigshospitalet Glostrup, University of Copenhagen, Glostrup, Denmark. 3Neurovascular Research Unit, Department of Neurology, Herlev Gentofte Hospital, University of Copenhagen, Herlev, Denmark. 4Copenhagen Neuromuscular Center, Department of Neurology, Rigshospitalet, University of Copenhagen, Denmark. KEYWORDS: BOLD signal; Becker muscular dystrophy; case–control study; neurovascular coupling; somatosensory evoked potentials PMID: 30106246 PMCID: PMC5991560 DOI:10.1002/brb3.985 Free PMC Article

53. Mol Med. 2018 Apr 5;24(1):14. doi: 10.1186/s10020-018-0016-7. Non-invasive fetal sex diagnosis in plasma of early weeks pregnants using droplet digital PCR. D'Aversa E1, Breveglieri G1, Pellegatti P2, Guerra G2, Gambari R1,3, Borgatti M4,5. 1Department of Life Sciences and Biotechnology, Biochemistry and Molecular Biology Section, University of Ferrara, Via Fossato di Mortara 74, 44121, Ferrara, Italy. 2Operative Unit of Laboratory Analysis, University Hospital S. Anna, Via A. Moro, 8, 44100, Ferrara, Italy. 3Biotechnology Center, University of Ferrara, Via Fossato di Mortara 64, 44121, Ferrara, Italy. 4Department of Life Sciences and Biotechnology, Biochemistry and Molecular Biology Section, University of Ferrara, Via Fossato di Mortara 74, 44121, Ferrara, Italy. [email protected]. 5Biotechnology Center, University of Ferrara, Via Fossato di Mortara 64, 44121, Ferrara, Italy. [email protected]. KEYWORDS: Droplet digital PCR; Non-invasive prenatal diagnosis; X-linked disorders; Y-chromosome PMID: 30134789 PMCID: PMC6016869 DOI: 10.1186/s10020-018-0016-7 Free PMC Article

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54. J Pediatr Neurosci. 2018 Apr-Jun;13(2):182-188. doi: 10.4103/jpn.JPN_159_17. Study of Dystrophinopathy in Eastern Uttar Pradesh Population of India. Kumari P1, Joshi D2, Shamal SN1, Singh R1. 1Department of Anatomy, Institute of Medical Sciences, Banaras Hindu University, Varanasi, Uttar Pradesh, India. 2Department of Neurology, Institute of Medical Sciences, Banaras Hindu University, Varanasi, Uttar Pradesh, India. KEYWORDS: Becker muscular dystrophy; Duchene muscular dystrophy; dystrophin; multiplex polymerase chain reaction PMID: 30090132 PMCID:PMC6057182 DOI:10.4103/jpn.JPN_159_17 Free PMC Article

Dystrophies musculaires d’Emery-Dreifuss – Emery-Dreifuss muscular dystrophies 55. World J Radiol. 2018 Jul 28;10(7):78-82. doi: 10.4329/wjr.v10.i7.78. Obesity and pericallosal lipoma in X-linked emery-dreifuss muscular dystrophy: A case report - Does Emerin play a role in adipocyte differentiation? Spanu F1, Saba L2. 1Department of Radiology, Azienda Ospedaliero Universitaria, Cagliari 09045, Italy. [email protected]. 2Department of Radiology, Azienda Ospedaliero Universitaria, Cagliari 09045, Italy. KEYWORDS: Adipocyte differentiation; Emerin; Emery-dreifuss-distrophy; Familiar emery dreifuss muscular dystrophy; Pericallosal lipoma PMID: 30079154 PMCID:PMC6068725 DOI:10.4329/wjr.v10.i7.78 Free PMC Article

Dystrophie musculaire facioscapulohumérale – Facioscapulohumeral muscular dystrophy (FSHD) 56. Epigenetics Chromatin. 2018 Aug 20;11(1):47. doi: 10.1186/s13072-018-0215-z. Sporadic DUX4 expression in FSHD myocytes is associated with incomplete repression by the PRC2 complex and gain of H3K9 acetylation on the contracted D4Z4 allele. Haynes P1, Bomsztyk K2, Miller DG3,4. 1Departments of Pediatrics and Genome Sciences, University of Washington, Seattle, WA, USA. 2Department of Medicine, University of Washington, Seattle, WA, USA. 3Departments of Pediatrics and Genome Sciences, University of Washington, Seattle, WA, USA. [email protected]. 4University of Washington, Campus Box 358056, 850 Republican Street, Room N416, Seattle, WA, 98109, USA. [email protected]. KEYWORDS: Bivalent; Chromatin; D4Z4; DUX4; Dystrophy; Epigenetics; FSHD; Facioscapulohumeral; H3K9Ac; Histone; Muscular; Neuromuscular; PRC2; Polycomb repressive complex; SMCHD1 PMID: 30122154 PMCID: PMC6100714 DOI: 10.1186/s13072-018-0215-z Free PMC Article

57. Hum Mol Genet. 2018 Aug 9. doi: 10.1093/hmg/ddy293. [Epub ahead of print] A Patient-derived iPSC Model Revealed Oxidative Stress Increases Facioscapulohumeral Muscular Dystrophy-causative DUX4. Sasaki-Honda M1,2, Jonouchi T1, Arai M1,3, Hotta A1, Mitsuhashi S4,5, Nishino I5, Matsuda R2,6, Sakurai H1. 1Center for iPS Cell Research and Application (CiRA), Kyoto University, 53 Shogoin Kawahara-cho, Sakyo-ku, Kyoto 606- 8507, Japan. 2Department of Biological Sciences, Graduate School of Science, the University of Tokyo, 3-8-1 Komaba, Meguro, Tokyo 153-8902, Japan. 3Agricultural and Environmental Engineering, Faculty of Agriculture, Kyoto University, Kitashirakawa Oiwake-cho, Sakyo- ku, Kyoto 606-8502, Japan. 4Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa 236- 0004, Japan. 5Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, Tokyo 187-8502, Japan. 6Department of Life Sciences, Graduate School of Arts and Sciences, the University of Tokyo, 3-8-1 Komaba, Meguro, Tokyo 153-8902, Japan.

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PMID: 30107443 DOI: 10.1093/hmg/ddy293

58. J Neuromuscul Dis. 2018;5(3):315-319. doi: 10.3233/JND-180318. MRI-Guided Biopsy as a Tool for Diagnosis and Research of Muscle Disorders. Lassche S1, Janssen BH2, IJzermans T1, Fütterer JJ2, Voermans NC1, Heerschap A2, Küsters B3, Mann RM2, van Engelen BG1. 1Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, The Netherlands. 2Department of Radiology and Nuclear Medicine, Radboud University Medical Center, The Netherlands. 3Department of Pathology, Radboud University Medical Center, The Netherlands. KEYWORDS: Muscle MRI; facioscapulohumoral muscular dystrophy; inflammatory ; muscle biopsy; myositis PMID: 30103349 PMCID:PMC6087442 DOI:10.3233/JND-180318 Free PMC Article

Dystrophies myotoniques – Myotonic dystrophies 59. ACS Chem Biol. 2018 Aug 27. doi: 10.1021/acschembio.8b00646. [Epub ahead of print] Furamidine Rescues Type I Associated Mis-Splicing through Multiple Mechanisms. Jenquin JR1, Coonrod LA2, Silverglate QA1, Pellitier NA3, Hale MA1, Xia G4, Nakamori M5, Berglund JA1. 1Department of Biochemistry & Molecular Biology, Center for NeuroGenetics , College of Medicine, University of Florida , Gainesville , Florida 32610 , United States. 2Phil and Penny Knight Campus for Accelerating Scientific Impact , University of Oregon , Eugene , Oregon 97403 , United States. 3Department of Biology , University of Oregon , Eugene , Oregon 97403 , United States. 4Department of Neurology and Neuroscience , University of New Mexico School of Medicine , Albuquerque , New Mexico 87131 , United States. 5Department of Neurology , Osaka University Graduate School of Medicine , Osaka 565-0871 , Japan. PMID:30118588 DOI:10.1021/acschembio.8b00646

60. Front Neurol. 2018 Jul 25;9:601. doi: 10.3389/fneur.2018.00601. eCollection 2018. Myotonic Dystrophy-A Progeroid Disease? Meinke P1, Hintze S1, Limmer S1, Schoser B1. 1Friedrich-Baur-Institute at the Department of Neurology, University Hospital, Ludwig-Maximilians-University Munich, Munich, Germany. KEYWORDS: DNA repair; myotonic dystrophy; nuclear envelope; premature aging; segmental progeroid disorder PMID: 30140252 PMCID:PMC6095001 DOI:10.3389/fneur.2018.00601 Free PMC Article

61. Ann Indian Acad Neurol. 2018 Apr-Jun;21(2):116-118. doi: 10.4103/aian.AIAN_182_17. "Dystrophia Myotonica" and the Legacy of Hans Gustav Wilhelm Steinert. Mishra SK1,2,3,4, Singh S5, Lee B2, Khosa S2,3, Moheb N1,3, Tandon VA2,6. 1Department of Neurology, David Geffen School of Medicine, University of California, Los Angeles, USA. 2Department of Neurology, Veterans Affairs Greater Los Angeles Healthcare System, USA. 3Department of Neurology, Olive View UCLA Medical Center, Sylmar, USA. 4Department of Neurology, Keck School of Medicine, University of Southern California, Los Angeles, USA.

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5Western University of Health Sciences, Pomona, USA. 6University of California, Santa Barbara, USA. KEYWORDS: Dystrophia myotonica; Hans Gustav Wilhelm Steinert; myotonic dystrophy type 1; neurologist PMID: 30122835 PMCID:PMC6073962 DOI:10.4103/aian.AIAN_182_17 Free PMC Article

62. Ann Noninvasive Electrocardiol. 2018 Aug 12:e12587. doi: 10.1111/anec.12587. [Epub ahead of print] Twenty-four-hour ambulatory ECG monitoring relevancy in myotonic dystrophy type 1 follow-up: Prognostic value and heart rate variability evolution. Gamet A1, Degand B1, Le Gal F1, Bidegain N1, Delaubier A2, Gilbert-Dussardier B3, Christiaens L1,4, Garcia R1,4. 1Department of Cardiology, CHU Poitiers, Poitiers, France. 2Department of Physical Medicine and Rehabilitation, CHU Poitiers, Poitiers, France. 3Department of Genetics, CHU Poitiers, Poitiers, France. 4Univ Poitiers, Poitiers, France. KEYWORDS: Holter monitoring; ambulatory electrocardiography; autonomic nervous system; heart rate variability; myopathy; type 1 myotonic dystrophy PMID: 30101452 DOI:10.1111/anec.12587

63. Front Physiol. 2018 Jul 27;9:967. doi: 10.3389/fphys.2018.00967. eCollection 2018. Generation and Neuronal Differentiation of hiPSCs From Patients With Myotonic Dystrophy Type 2. Spitalieri P1, Talarico RV1, Murdocca M1, Fontana L1, Marcaurelio M1, Campione E2, Massa R3, Meola G4, Serafino A5, Novelli G1,6, Sangiuolo F1, Botta A1. 1Medical Genetics Section, Department of Biomedicine and Prevention, University of Rome Tor Vergata, Rome, Italy. 2Division of Dermatology, Department of Systems Medicine, University of Rome Tor Vergata, Rome, Italy. 3Division of Neurology, Department of Systems Medicine, University of Rome Tor Vergata, Rome, Italy. 4Department of Biomedical Science for Health, Policlinico San Donato (IRCCS), University of Milan, Milan, Italy. 5Institute of Translational Pharmacology, Italian National Research Council, Rome, Italy. 6Istituto Neurologico Mediterraneo (IRCCS), Pozzilli, Italy. KEYWORDS: human induced pluripotent stem cells (hiPSCs); intranuclear foci; muscleblind-like 1 and 2 (MBNL1 and 2); myotonic dystrophy type 2 (DM2); neuronal population (NP) PMID: 30100878 PMCID: PMC6074094 DOI: 10.3389/fphys.2018.00967 Free PMC Article

64. Neurol Sci. 2018 Aug 9. doi: 10.1007/s10072-018-3530-z. [Epub ahead of print] Diastolic heart dysfunction is correlated with CTG repeat length in myotonic dystrophy type 1. Park JS1, Kim N2, Park D3. 1Department of Neurology, School of Medicine, Kyungpook National University Chilgok hospital, Daegu, South Korea. 2Department of Internal Medicine, Kyungpook National University, School of Medicine, Daegu, South Korea. 3Department of Rehabilitation Medicine, Daegu Fatima Hospital, Ayangro 99, Dong gu, Daegu, 41199, Republic of Korea. [email protected]. KEYWORDS: Aerobic exercise; CTG repeat; Left ventricle diastolic dysfunction; Myocardial dysfunction; ; Myotonic dystrophy type 1 PMID: 30094526 DOI: 10.1007/s10072-018-3530-z

65. Drug Discov Today. 2018 Aug 4. pii: S1359-6446(17)30530-5. doi: 10.1016/j.drudis.2018.08.004. [Epub ahead of print] RNA-mediated therapies in myotonic dystrophy. Overby SJ1, Cerro-Herreros E1, Llamusi B1, Artero R2.

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1University of Valencia, Interdisciplinary Research Structure for Biotechnology and Biomedicine (ERI BIOTECMED), Valencia, Spain; Translational Genomics Group, Incliva Health Research Institute, Valencia, Spain; Joint Unit Incliva-CIPF, Valencia, Spain. 2University of Valencia, Interdisciplinary Research Structure for Biotechnology and Biomedicine (ERI BIOTECMED), Valencia, Spain; Translational Genomics Group, Incliva Health Research Institute, Valencia, Spain; Joint Unit Incliva-CIPF, Valencia, Spain. Electronic address: [email protected]. PMID: 30086404 DOI: 10.1016/j.drudis.2018.08.004

66. Acta Myol. 2018 May 1;37(1):5-8. eCollection 2018 May. Usefulness of the external loop recorder in a patient with Myotonic Dystrophy type 1 and recurrent episodes of palpitations: evaluation of the follow-up from diagnosis to 6 month-post-cardiac interventional treatment. Rago A1,2,3, Antonio Papa A1,2, Galante D2, Cassese A1, Golino P1. 1Department of Cardiology, University of Campania "Luigi Vanvitelli", Naples, Italy - Monaldi Hospital, Naples, Italy. 2Cardiomyology and Medical Genetics, Department of Experimental Medicine, University of Campania "Luigi Vanvitelli", Naples, Italy. 3Department of Anesthesia and Intensive Care, University Hospital Ospedali Riuniti, Foggia, Italy. KEYWORDS: Myotonic Dystrophy; atrial fibrillation; atrial flutter; cavo-tricuspid isthmus radiofrequency ablation; external loop recorder; mapping technology PMID: 30079399 PMCID: PMC6060429 Free PMC Article

Fibrodysplasie ossifiante progressive – Fibrodysplasia ossificans progressiva 67. Development. 2018 Aug 23;145(16). pii: dev165431. doi: 10.1242/dev.165431. Modeling human somite development and fibrodysplasia ossificans progressiva with induced pluripotent stem cells. Nakajima T1, Shibata M1, Nishio M2, Nagata S3, Alev C3, Sakurai H1, Toguchida J2,3,4, Ikeya M5. 1Department of Clinical Application, Center for iPS Cell Research and Application, Kyoto University, Kyoto 606-8507, Japan. 2Department of Tissue Regeneration, Institute for Frontier Life and Medical Sciences, Kyoto University, Kyoto 606-8507, Japan. 3Department of Cell Growth and Differentiation, Center for iPS Cell Research and Application, Kyoto University, Kyoto 606- 8507, Japan. 4Department of Orthopaedic Surgery, Graduate School of Medicine, Kyoto University, Kyoto 606-8507, Japan. 5Department of Clinical Application, Center for iPS Cell Research and Application, Kyoto University, Kyoto 606-8507, Japan [email protected]. KEYWORDS: Differentiation; Disease modeling; Fibrodysplasia ossificans progressiva; Induced pluripotent stem cells; Paraxial mesoderm PMID: 30139810 DOI:10.1242/dev.165431 [Indexed for MEDLINE] Free full text

68. Acta Reumatol Port. 2018 Apr-Jun;43(2):156-158. My Phenotype speaks: please do not harm me with biopsy needle. Saini I1, Bagri N1, Gupta N1. 1All India Institute of Medical Sciences, New Delhi, India. PMID: 30091961 Free full text

69. Bone. 2018 Aug 7;116:171. doi: 10.1016/j.bone.2018.08.003. [Epub ahead of print] Letter to Editor: F.S. Kaplan, et al., Early clinical observations on the use of imatinibmesylate in FOP: A report of seven cases, Bone (2017). Rohleder O1, Mudry P2, Neradil J3, Noskova H4, Slaby O5, Sterba J6. 1Pediatric Oncology Department, University Hospital Brno and School of Medicine, Masaryk University, Cernopolni 9, Brno 613 00, Czech Republic; Division of Medical Genetics, Department of Biology, University Hospital Brno and School of Medicine, Masaryk University, Cernopolni 9, Brno 613 00, Czech Republic. Electronic address: [email protected].

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2Pediatric Oncology Department, University Hospital Brno and School of Medicine, Masaryk University, Cernopolni 9, Brno 613 00, Czech Republic. Electronic address: [email protected]. 3Pediatric Oncology Department, University Hospital Brno and School of Medicine, Masaryk University, Cernopolni 9, Brno 613 00, Czech Republic; Laboratory of Tumor Biology, Department of Experimental Biology, School of Science, Masaryk University, Kotlarska 2, Brno 611 37, Czech Republic. Electronic address: [email protected]. 4Central European Institute of Technology, Masaryk University, Kamenice 753/5, Brno 625 00, Czech Republic. Electronic address: [email protected]. 5Central European Institute of Technology, Masaryk University, Kamenice 753/5, Brno 625 00, Czech Republic. Electronic address: [email protected]. 6Pediatric Oncology Department, University Hospital Brno and School of Medicine, Masaryk University, Cernopolni 9, Brno 613 00, Czech Republic. Electronic address: [email protected]. PMID: 30096467 DOI:10.1016/j.bone.2018.08.003

Laminopathies – Laminopathies 70. Nucleus. 2018 Aug 21. doi: 10.1080/19491034.2018.1506680. [Epub ahead of print] Cardiolaminopathies from bench to bedside: challenges in clinical decision-making with focus on arrhythmia-related outcomes. Boriani G1, Biagini E2, Ziacchi M2, Malavasi VL1, Vitolo M1, Talarico M1, Mauro E1, Gorlato G1, Lattanzi G3,4. 1a Cardiology Division, Department of Biomedical, Metabolic and Neural Sciences , University of Modena and Reggio Emilia, Policlinico di Moden , Modena , Italy. 2b Institute of Cardiology, Department of Experimental , Diagnostic and Specialty Medicine, University of Bologna, S.Orsola-Malpighi University Hospital , Bologna , Italy. 3c CNR Institute of Molecular Genetics , Unit of Bologna. 4d Rizzoli Orthopedic Institute , Bologna , Italy. KEYWORDS: Arrhythmia; Emerin; Emery-Dreifuss muscular dystrophy; Heart failure; Lamin A/C; Stroke; Sudden cardiac death; Thromboembolism PMID: 30130999 DOI:10.1080/19491034.2018.1506680

Maladie de Pompe – Pompe disease 71. J Clin Neuromuscul Dis. 2018 Sep;20(1):47-48. doi: 10.1097/CND.0000000000000216. Clinical Variability in 2 Siblings With Late-Onset Pompe Disease. Correia CDC1, Fontana PN1, de Góes GHB1, Zanoteli E2. 1Departamento de Neurologia, Hospital Universitário Oswaldo Cruz, Universidade de Pernambuco, Recife, Brazil. 2Departamento de Neurologia, Faculdade de Medicina da Universidade de São Paulo (FMUSP), São Paulo, Brazil. PMID:30124561 DOI:10.1097/CND.0000000000000216

72. Neurotherapeutics. 2018 Aug 16. doi: 10.1007/s13311-018-0655-y. [Epub ahead of print] Pompe Disease: From Basic Science to Therapy. Kohler L1, Puertollano R2, Raben N3. 1Cell Biology and Physiology Center, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD, USA. 2Cell Biology and Physiology Center, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD, USA. [email protected]. 3Cell Biology and Physiology Center, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD, USA. [email protected]. KEYWORDS: Glycogen storage; autophagy; replacement therapy; lysosome; myopathy; newborn screening PMID: 30117059 DOI:10.1007/s13311-018-0655-y

73. MDM Policy Pract. 2018 Jan-Jun;3(1). doi: 10.1177/2381468318763814. Epub 2018 Apr 18. Using Decision Analysis to Support Newborn Screening Policy Decisions: A Case Study for Pompe Disease.

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Prosser LA1, Lam KK1, Grosse SD1, Casale M1, Kemper AR1. 1Child Health Evaluation and Research (CHEAR) Center, Division of General Pediatrics, University of Michigan, Ann Arbor, MI, USA (LAP), Duke Clinical and Translational Science Institute, Duke University, Durham, NC, USA (KKL), National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, GA, USA (SDG), Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA (MC), Division of Ambulatory Pediatrics, Nationwide Children's Hospital, Columbus, OH (ARK). KEYWORDS: decision analysis; health policy; newborn screening PMID: 30123835 PMCID:PMC6095138 Free PMC Article

74. J Stroke Cerebrovasc Dis. 2018 Aug 6. pii: S1052-3057(18)30372-0. doi: 10.1016/j.jstrokecerebrovasdis.2018.06.043. [Epub ahead of print] A Case of Adult-onset Pompe Disease with Cerebral Stroke and Left Ventricular Hypertrophy. Hossain MA1, Miyajima T2, Akiyama K2, Eto Y3. 1Advanced Clinical Research Center, Institute of Neurological Disorders, Kawasaki, Kanagawa, Japan; Department of Gene Therapy, Institute for deoxyribonucleic acid (DNA) Medicine, The Jikei University School of Medicine, Tokyo, Japan. Electronic address: [email protected]. 2Advanced Clinical Research Center, Institute of Neurological Disorders, Kawasaki, Kanagawa, Japan. 3Advanced Clinical Research Center, Institute of Neurological Disorders, Kawasaki, Kanagawa, Japan; Department of Gene Therapy, Institute for deoxyribonucleic acid (DNA) Medicine, The Jikei University School of Medicine, Tokyo, Japan. Electronic address: [email protected]. KEYWORDS: Late-onset Pompe disease; acid α-glucosidase; cerebral stroke; enzyme replacement therapy PMID: 30093193 DOI:10.1016/j.jstrokecerebrovasdis.2018.06.043

75. Mol Genet Metab Rep. 2018 Jul 26;16:64-65. doi: 10.1016/j.ymgmr.2018.07.002. eCollection 2018 Sep. Renal artery fibromuscular dysplasia in Pompe disease: A case report. Pappa E1, Papadopoulos C1, Grimbert P2, Laforêt P3, Bassez G1. 1Centre de Référence Neuromusculaire Nord/Est/Ile de France, AP-HP, Institut de Myologie, GH Pitié-Salpêtrière, 47-83 Boulevard de l'Hôpital, 75013 Paris, France. 2Service de Néphrologie et Transplantation, Hôpital Henri-Mondor, AP-HP, 51, avenue Maréchal-de-Lattre-de-Tassigny, 94010 Créteil, France. 3Centre de Référence Neuromusculaire Nord/Est/Ile de France, Service de Neurologie, Hôpital Raymond-Poincaré, AP- HP, 104 Boulevard Raymond Poincaré, 92380 Garches, France. KEYWORDS: All clinical neurology; Glycogenoses; Metabolic disease (inherited); Muscle disease PMID: 30090700 PMCID: PMC6078050 DOI: 10.1016/j.ymgmr.2018.07.002 Free PMC Article

Myasthénie autoimmune – Myasthenia gravis 76. Muscle Nerve. 2018 Aug 25. doi: 10.1002/mus.26328. [Epub ahead of print] New onset of seropositive generalized myasthenia gravis following intravesical Bacille Calmette-Guerin treatment for bladder cancer: A case study. Davalos L1, Kushlaf H1. 1Department of Neurology and Rehabilitation Medicine, University of Cincinnati, Cincinnati, Ohio. KEYWORDS: BCG; Myasthenia Gravis; bladder cancer; immune-related adverse event; intravesical BCG; disorder PMID:30144311 DOI:10.1002/mus.26328

77. Neurology. 2018 Aug 24. pii: 10.1212/WNL.0000000000006251. doi: 10.1212/WNL.0000000000006251. [Epub ahead of print] Myasthenia gravis following alemtuzumab therapy for multiple sclerosis.

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Midaglia L1, Gratacòs M2, Caronna E2, Raguer N2, Sastre-Garriga J2, Montalban X2, Tintoré M2. 1From the Servei de Neurologia/Neuroimmunologia, Multiple Sclerosis Centre of Catalonia (CEM-Cat) (L.M., J.S.-G., X.M., M.T.), Servei de Neurofisiologia Clínica, Unitat d'Electromiografia (M.G., N.R.), and Servei de Neurologia (E.C.), Hospital Universitari Vall d'Hebron, Universitat Autònoma de Barcelona, Spain; and Division of Neurology (X.M.), University of Toronto, St Michael's Hospital, Canada. [email protected]. 2From the Servei de Neurologia/Neuroimmunologia, Multiple Sclerosis Centre of Catalonia (CEM-Cat) (L.M., J.S.-G., X.M., M.T.), Servei de Neurofisiologia Clínica, Unitat d'Electromiografia (M.G., N.R.), and Servei de Neurologia (E.C.), Hospital Universitari Vall d'Hebron, Universitat Autònoma de Barcelona, Spain; and Division of Neurology (X.M.), University of Toronto, St Michael's Hospital, Canada. PMID: 30143565 DOI:10.1212/WNL.0000000000006251

78. Eur J Neurol. 2018 Aug 22. doi: 10.1111/ene.13788. [Epub ahead of print] Maternal myasthenia gravis represents a risk for the child through autoantibody transfer, immunosuppressive therapy and genetic influence. Gilhus NE1,2, Hong Y1. 1Department of Clinical Medicine, University of Bergen, Bergen, Norway. 2Department of Neurology, Haukeland University Hospital, Bergen, Norway. KEYWORDS: arthrogryposis; autoantibodies; breastfeeding; genetics; immunosuppressive therapy; myasthenia gravis; neonatal myasthenia; pregnancy PMID: 30133097 DOI:10.1111/ene.13788

79. MAbs. 2018 Aug 21. doi: 10.1080/19420862.2018.1505464. [Epub ahead of print] Generation and characterization of a high affinity anti-human FcRn antibody, rozanolixizumab, and the effects of different molecular formats on the reduction of plasma IgG concentration. Smith B1, Kiessling A1, Lledo-Garcia R1, Dixon KL1, Catley MC1, Atherfold P1, D'Hooghe LE1, Finney H1, Greenslade K1, Hailu H1, Kevorkian L1, Lightwood D1, Meier C1, Munro R1, Qureshi O1, Sarkar K1, Shaw SP1, Tewari R1, Turner A1, Tyson K1, West S1, Shaw S1, Brennan FR1. 1a UCB Pharma , Slough , UK. KEYWORDS: FcRn; FcRn blockade; IgG catabolism; UCB7665; autoantibody; ; immune thrombocytopenia; myasthenia gravis; rozanolixizumab; target-mediated drug disposition PMID: 30130439 DOI:10.1080/19420862.2018.1505464

80. Clin Neuropharmacol. 2018 Aug 20. doi: 10.1097/WNF.0000000000000295. [Epub ahead of print] Treatment of Myasthenia Gravis With High-Dose Cholinesterase Inhibitors and Calcineurin Inhibitors Caused Spontaneous Muscle Cramps in Patients. Masuda M, Utsumi H1, Tanaka S2, Maeno A2, Yamamoto M2, Sugiyama K2, Hirano T2, Aizawa H. 1Department of Neurology, Shioya Hospital, International University of Health and Welfare. 2Department of Clinical Pharmacology, Tokyo University of Pharmacy and Life Sciences, Tokyo, Japan. PMID: 30130259 DOI:10.1097/WNF.0000000000000295

81. Eur J Cancer. 2018 Aug 20;102:49-51. doi: 10.1016/j.ejca.2018.07.125. [Epub ahead of print] Rituximab in the treatment of pembrolizumab-induced myasthenia gravis. Crusz SM1, Radunovic A2, Shepherd S3, Shah S3, Newey V3, Phillips M4, Lim L4, Powles T4, Szlosarek PW4, Shamash J4, Rashid S4.

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1Department of Medical Oncology, Barts Health NHS Trust, Basement Level, KGV Building, London, EC1A 7BE, UK. Electronic address: [email protected]. 2Department of Neurology, Barts Health NHS Trust, 4th Floor Front Block, Whitechapel, London, EH1 1BB, UK. 3Department Perioperative Medicine, Barts Health NHS Trust, 6th Floor, KGV Building, London, EC1A 7BE, UK. 4Department of Medical Oncology, Barts Health NHS Trust, Basement Level, KGV Building, London, EC1A 7BE, UK. PMID: 30138772 DOI:10.1016/j.ejca.2018.07.125

82. BMC Neurol. 2018 Aug 14;18(1):113. doi: 10.1186/s12883-018-1120-6. CIDP, myasthenia gravis, and membranous glomerulonephritis - three autoimmune disorders in one patient: a case report. Bolz S1, Totzeck A1, Amann K2, Stettner M1, Kleinschnitz C1, Hagenacker T3. 1Department of Neurology, Essen University Hospital, Hufelandstrasse 55, 45147, Essen, Germany. 2Department of Nephropathology, University of Erlangen-Nürnberg, Krankenhausstr. 8-10, 91054, Erlangen, Germany. 3Department of Neurology, Essen University Hospital, Hufelandstrasse 55, 45147, Essen, Germany. tim.hagenacker@uk- essen.de. KEYWORDS: Autoantibodies; Autoimmunity; Neuroinflammation; Neuromuscular; T cells PMID: 30107838 PMCID: PMC6092826 DOI:10.1186/s12883-018-1120-6 Free PMC Article

83. Muscle Nerve. 2018 Aug 14. doi: 10.1002/mus.26317. [Epub ahead of print] On the double: Early immunotherapy speeds recovery of ocular myasthenic weakness. Guidon AC1, Hobson-Webb LD2. 1Division of Neuromuscular Medicine, Department of Neurology, Massachusetts General Hospital, Boston, MA. 2Division of Neuromuscular Medicine, Department of Neurology, Duke University Medical Center, Durham, NC. No abstract is available for this article. KEYWORDS: Corticosteroids; Disease-Specific Outcome Measures; Immunotherapy; Myasthenia Gravis; Ocular Myasthenia Gravis; Ophthalmoparesis PMID: 30106478 DOI: 10.1002/mus.26317

84. Muscle Nerve. 2018 Aug 14. doi: 10.1002/mus.26318. [Epub ahead of print] B cells in the pathophysiology of myasthenia gravis: Is there a role for cladribine? Deftereos SN1,2. 1Private Practice, Agiou Ioannou 28st, Agia Paraskevi, 15342, Athens, Greece. 2Merck Hellas S.A., 41-45 Kifisias Avenue, 15123, Athens, Greece. No abstract is available for this article. KEYWORDS: B Cells; Cladribine; Immunology; Lymphocytes; Myasthenia Gravis; T Cells PMID: 30106475 DOI: 10.1002/mus.26318

85. Muscle Nerve. 2018 Aug 14. doi: 10.1002/mus.26319. [Epub ahead of print] Serial stimulated jitter analysis in juvenile myasthenia gravis. Bhatia S1, Quinlan H2, McCracken C3, Price EW4, Guglani L4, Verma S5. 1Undergraduate student, Emory University, Atlanta, Georgia. 2Physical therapist, Department of Rehabilitation and Therapy Services, Children's Healthcare of Atlanta, Atlanta, GA. 3Assistant Professor, Division of Biostatistics, Department of Pediatrics, Emory University School of Medicine, Atlanta, GA. 4Assistant Professor, Pulmonology, Allergy/Immunology, Cystic Fibrosis and Sleep (PACS). 5Assistant Professor, Division of Pediatric Neurology, Department of Pediatrics, Emory University School of Medicine, Atlanta, GA.

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KEYWORDS: MGFA class; biomarkers; forced vital capacity; grip strength; juvenile myasthenia gravis; serial jitter; single fiber EMG PMID: 30106469 DOI:10.1002/mus.26319

86. Case Rep Hematol. 2018 Jul 17;2018:7296930. doi: 10.1155/2018/7296930. eCollection 2018. Myasthenia Gravis Presenting as Graft versus Host Disease after Allogeneic Blood Stem Cell Transplant. Ahmed Z1, Schoen M2, Rajeh N2. 1Department of Internal Medicine, Saint Louis University School of Medicine, St. Louis, MO, USA. 2Department of Hematology and Oncology, Saint Louis University School of Medicine, St. Louis, MO, USA. PMID: 30116647 PMCID:PMC6079576 DOI:10.1155/2018/7296930 Free PMC Article

87. Rev Assoc Med Bras (1992). 2018 Apr;64(4):311-314. doi: 10.1590/1806-9282.64.04.311. Gluten and Neuroimmunology. Rare association with Myasthenia Gravis and Literature Review. Oliveira F1, Schoeps V1, Sanvito W1, Valerio B2. 1Department of Neurology, Santa Casa at São Paulo-SP, Brasil. Ambulatory of Neurological manifestations of systemic diseases. 2Ambulatory of neuromuscular diseases. PMID: 30133608 DOI:10.1590/1806-9282.64.04.311 Free full text

88. J Neurol. 2018 Aug 11. doi: 10.1007/s00415-018-8995-4. [Epub ahead of print] Fatigue in patients with myasthenia gravis. Alekseeva TM1, Gavrilov YV2, Kreis OA3, Valko PO4, Weber KP4,5, Valko Y6. 1Department of Neurology and Psychiatry, Almazov National Medical Research Centre, 197341, St. Petersburg, Russia. 2Department of General Pathology and Pathological Physiology, Institute of Experimental Medicine, St. Petersburg, Russia. 3Department of Neurology, North-Western State Medical University, 191015, St. Petersburg, Russia. 4Department of Neurology, University Hospital Zurich, Clinical Neuroscience Center, University of Zurich, 8091, Zurich, Switzerland. 5Department of Ophthalmology, University Hospital Zurich, University of Zurich, 8091, Zurich, Switzerland. 6Department of Neurology, University Hospital Zurich, Clinical Neuroscience Center, University of Zurich, 8091, Zurich, Switzerland. [email protected]. KEYWORDS: Fatigue Impact Scale; Fatigue Severity Scale; Myasthenia gravis; Russian PMID: 30099585 DOI:10.1007/s00415-018-8995-4

89. Clin Neurol Neurosurg. 2018 Jul 30;173:70-76. doi: 10.1016/j.clineuro.2018.07.023. [Epub ahead of print] Efficacy and safety of tacrolimus in Osserman grade III and Osserman grade IV Myasthenia Gravis. Zhao LN1, Liang Y2, Fang XJ2, Liu XM2, Jiang QL1, Wang SS1, She SF1, Cao M3. 1Department of Spleen-Stomach, The First Affiliated Hospital, Guangzhou University of Chinese Medicine, Guangzhou, 510405, China. 2Guangzhou University of Chinese Medicine, Guangzhou, 510405, China. 3Guangzhou University of Chinese Medicine, Guangzhou, 510405, China. Electronic address: [email protected]. KEYWORDS: Drug-related side effect and adverse reactions; Immunosuppressive agents; Myasthenia Gravis; Tacrolimus PMID: 30092406 DOI:10.1016/j.clineuro.2018.07.023

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90. Open Access Maced J Med Sci. 2018 Jul 13;6(7):1278-1281. doi: 10.3889/oamjms.2018.192. eCollection 2018 Jul 20. A Case of Orbital Myositis Presenting With Dizziness. Aquilina N1, Bugeja V1, Zahra C1. 1St Vincent de Paul, Ingiered Road, Luqa, Malta. KEYWORDS: Complex ophthalmoplegia; Dizziness; Pain; Steroids; Unilateral PMID: 30087737 PMCID: PMC6062292 DOI: 10.3889/oamjms.2018.192 Free PMC Article

91. QJM. 2018 Aug 4. doi: 10.1093/qjmed/hcy173. [Epub ahead of print] Tensilon Test: Myasthenia Gravis. Matsuura H1,2, Sogabe Y3. 1Department of General Internal Medicine, Mitoyo General Hospital, Himehama, Toyohama-cho, Kanonji-city, Kagawa, Japan. 2Department of General Internal Medicine, Kurashiki Central Hospital, Himehama, Toyohama-cho, Kanonji-city, Kagawa, Japan. 3Department of Ophthalmology, Mitoyo General Hospital, Himehama, Toyohama-cho, Kanonji-city, Kagawa, Japan. PMID: 30085301 DOI:10.1093/qjmed/hcy173

Myopathies congénitales – Congenital myopathies 92. Paediatr Anaesth. 2018 Aug;28(8):749-750. doi: 10.1111/pan.13458. Using sevoflurane in a pediatric patient with nemaline rod myopathy. Oliveira M1, Fernandes AL2, Vargas S1. 1Department of Anaesthesiology, Centro Hospitalar de São João, Porto, Portugal. 2Department of Anaesthesiology, Hospital Central do Funchal, Funchal, Portugal. PMID: 30144234 DOI: 10.1111/pan.13458

93. J Neuromuscul Dis. 2018 Jul 28. doi: 10.3233/JND-180309. [Epub ahead of print] Centronuclear myopathies under attack: A plethora of therapeutic targets. Tasfaout H, Cowling BS, Laporte J. KEYWORDS: ; amphiphysin; autophagy; dynamin; gene therapy; myotubular myopathy; myotubularin; neuropathy; oligonucleotide; phosphoinositides PMID: 30103348 DOI:10.3233/JND-180309

94. Neuromuscul Disord. 2018 Jul 1. pii: S0960-8966(17)31389-5. doi: 10.1016/j.nmd.2018.06.012. [Epub ahead of print] An integrated modelling methodology for estimating the prevalence of centronuclear myopathy. Vandersmissen I1, Biancalana V2, Servais L3, Dowling JJ4, Vander Stichele G1, Van Rooijen S5, Thielemans L6. 1Integrated Science & Market Access Services, Turnhout, Belgium. 2Laboratoire Diagnostic Génétique, Faculté de Médecine, CHRU, Nouvel Hôpital Civil, 1 place de l'Hôpital, 67091 Strasbourg, France; Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch, France; Centre National de la Recherche Scientifique, UMR7104, Illkirch, France; Institut National de la Santé et de la Recherche Médicale, U964, Illkirch, France; Fédération de Médecine Translationnelle de Strasbourg, Université de Strasbourg, Illkirch, France. 3Institut i-Motion, Hôpital Trousseau, Paris, France; Centre de Reference des Maladies Neuromusculaires, CHU Liege, Belgium. 4Division of Neurology, Hospital for Sick Children, Departments of Paediatrics and Molecular Genetics, University of Toronto. 5Dynacure, 67400 France.

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6Dynacure, 67400 France. Electronic address: [email protected]. KEYWORDS: Causative gene; Centronuclear myopathy; Geographic region; Incidence; Prevalence; Severity PMID: 30122513 DOI: 10.1016/j.nmd.2018.06.012

95. Front Genet. 2018 Jul 23;9:273. doi: 10.3389/fgene.2018.00273. eCollection 2018. Aberrant Protein Turn-Over Associated With Myofibrillar Disorganization in FHL1 Knockout Mice. Ding J1, Cong YF1, Liu B1, Miao J1, Wang L1. 1Medical Research Center of Shengjing Hospital, China Medical University, Shenyang, China. KEYWORDS: FHL1; autophagy; myofibrillar disorganization; myopathy; protein turn-over PMID: 30083183 PMCID:PMC6065255 DOI:10.3389/fgene.2018.00273 Free PMC Article

Myopathies distales – Distal myopathies 96. Exp Ther Med. 2018 Aug;16(2):1505-1512. doi: 10.3892/etm.2018.6344. Epub 2018 Jun 22. Distal myopathy with rimmed vacuoles: Spectrum of GNE gene mutations in seven Chinese patients. Su F1, Miao J1, Liu X1, Wei X1, Yu X1. 1Department of Neurology, Neuroscience Center, The First Affiliated Hospital of Jilin University, Changchun, Jilin 130021, P.R. China. KEYWORDS: UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase mutation; genetic analysis; muscle atrophy and weakness; muscle biopsy; quadriceps sparing; rimmed vacuoles PMID: 30112071 PMCID: PMC6090448 DOI: 10.3892/etm.2018.6344 Free PMC Article

97. Biochem Biophys Res Commun. 2018 Aug 9. pii: S0006-291X(18)31718-2. doi: 10.1016/j.bbrc.2018.08.038. [Epub ahead of print] The heterozygous R155C VCP mutation: Toxic in humans! Harmless in mice? Clemen CS1, Winter L2, Strucksberg KH3, Berwanger C4, Türk M5, Kornblum C6, Florin A7, Aguilar-Pimentel JA8, Amarie OV9, Becker L8, Garrett L9, Hans W8, Moreth K8, Neff F10, Pingen L8, Rathkolb B11, Rácz I12, Rozman J13, Treise I8, Fuchs H8, Gailus-Durner V8, de Angelis MH14, Vorgerd M15, Eichinger L3, Schröder R16. 1Department of Neurology, Heimer Institute for Muscle Research, University Hospital Bergmannsheil, Ruhr-University Bochum, 44789, Bochum, Germany; Center for Biochemistry, Institute of Biochemistry I, Medical Faculty, University of Cologne, 50931, Cologne, Germany. Electronic address: [email protected]. 2Institute of Neuropathology, University Hospital Erlangen, Friedrich-Alexander University Erlangen-Nuremberg, 91054, Erlangen, Germany; Neuromuscular Research Department, Center for Anatomy and Cell Biology, Medical University of Vienna, 1090, Vienna, Austria. 3Center for Biochemistry, Institute of Biochemistry I, Medical Faculty, University of Cologne, 50931, Cologne, Germany. 4Department of Neurology, Heimer Institute for Muscle Research, University Hospital Bergmannsheil, Ruhr-University Bochum, 44789, Bochum, Germany; Center for Biochemistry, Institute of Biochemistry I, Medical Faculty, University of Cologne, 50931, Cologne, Germany. 5Department of Neurology, University Hospital Erlangen, Friedrich-Alexander University Erlangen-Nuremberg, 91054, Erlangen, Germany. 6Department of Neurology, University Hospital Bonn, 53125, Bonn, Germany; Center for Rare Diseases Bonn, University Hospital Bonn, 53127, Bonn, Germany. 7Institute for Pathology, University Hospital Cologne, 50937, Cologne, Germany. 8German Mouse Clinic, Institute of Experimental Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health, 85764, Neuherberg, Germany. 9German Mouse Clinic, Institute of Experimental Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health, 85764, Neuherberg, Germany; Institute of Developmental Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health, 85764, Neuherberg, Germany. 10German Mouse Clinic, Institute of Experimental Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health, 85764, Neuherberg, Germany; Institute of Pathology, Helmholtz Zentrum München, German Research Center for Environmental Health, 85764, Neuherberg, Germany. 11German Mouse Clinic, Institute of Experimental Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health, 85764, Neuherberg, Germany; Institute of Molecular Animal Breeding and Biotechnology, Gene

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Center, Ludwig-Maximilians-University München, 81377, Munich, Germany; German Center for Diabetes Research (DZD), 85764, Neuherberg, Germany. 12Institute of Molecular Psychiatry, Medical Faculty, University of Bonn, 53127, Bonn, Germany; Clinic of Neurodegenerative Diseases and Gerontopsychiatry, University of Bonn Medical Center, 53127, Bonn, Germany. 13German Mouse Clinic, Institute of Experimental Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health, 85764, Neuherberg, Germany; German Center for Diabetes Research (DZD), 85764, Neuherberg, Germany. 14German Mouse Clinic, Institute of Experimental Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health, 85764, Neuherberg, Germany; German Center for Diabetes Research (DZD), 85764, Neuherberg, Germany; Chair of Experimental Genetics, School of Life Science Weihenstephan, Technische Universität München, 85354, Freising, Germany. 15Department of Neurology, Heimer Institute for Muscle Research, University Hospital Bergmannsheil, Ruhr-University Bochum, 44789, Bochum, Germany. 16Institute of Neuropathology, University Hospital Erlangen, Friedrich-Alexander University Erlangen-Nuremberg, 91054, Erlangen, Germany. Electronic address: [email protected]. KEYWORDS: ALS; IBMPFD; Multisystem proteinopathy; R155C VCP knock-in mice; VCP; p97 PMID: 30100055 DOI:10.1016/j.bbrc.2018.08.038 Free full text

98. Neuromuscul Disord. 2018 Jun 27. pii: S0960-8966(18)30023-3. doi: 10.1016/j.nmd.2018.06.007. [Epub ahead of print] A cross-sectional analysis of clinical evaluation in 35 individuals with mutations of the valosin-containing protein gene. Plewa J1, Surampalli A1, Wencel M1, Milad M1, Donkervoort S2, Caiozzo VJ3, Goyal N4, Mozaffar T4, Kimonis V5. 1Division of Genetics and Genomic Medicine, Department of Pediatrics, University of California, Irvine Medical Center, 101 The City Drive South, ZC4482, Orange, CA 92868, United States. 2Division of Genetics and Genomic Medicine, Department of Pediatrics, University of California, Irvine Medical Center, 101 The City Drive South, ZC4482, Orange, CA 92868, United States; National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, United States. 3Department of Orthopedics and Physiology & Biophysics, University of California, Irvine, CA, United States. 4ALS and Neuromuscular Center, Department of Neurology, University of California, Irvine, CA, United States. 5Division of Genetics and Genomic Medicine, Department of Pediatrics, University of California, Irvine Medical Center, 101 The City Drive South, ZC4482, Orange, CA 92868, United States. Electronic address: [email protected]. KEYWORDS: Dynamometry; IBMFRS; IBMPFD; Inclusion Body Myopathy; Paget disease; VCP PMID: 30097247 DOI:10.1016/j.nmd.2018.06.007

Myopathies inflammatoires – Inflammatory myopathies 99. Lancet Neurol. 2018 Sep;17(9):816-828. doi: 10.1016/S1474-4422(18)30254-0. Classification and management of adult inflammatory myopathies. Selva-O'Callaghan A1, Pinal-Fernandez I2, Trallero-Araguás E3, Milisenda JC4, Grau-Junyent JM4, Mammen AL2. 1Systemic Autoimmune Diseases Unit, Vall d'Hebron General Hospital, Universitat Autònoma de Barcelona, Barcelona, Spain. Electronic address: [email protected]. 2Muscle Disease Unit, Laboratory of Muscle Stem Cells and Gene Regulation, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD, USA; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD, USA. 3Rheumatology Unit, Vall d'Hebron General Hospital, Universitat Autònoma de Barcelona, Barcelona, Spain. 4Internal Medicine Department, Hospital Clinic, Universitat de Barcelona, Barcelona, Spain; Centro de Investigación Médica en Red Enfermedades Raras. PMID: 30129477 DOI:10.1016/S1474-4422(18)30254-0

100. JAMA Dermatol. 2018 Aug 22. doi: 10.1001/jamadermatol.2018.2549. [Epub ahead of print]

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Association Between Autoantibody Phenotype and Cutaneous Adverse Reactions to Hydroxychloroquine in Dermatomyositis. Wolstencroft PW1, Casciola-Rosen L2, Fiorentino DF1. 1Department of Dermatology, Stanford University School of Medicine, Redwood City, California. 2Division of Rheumatology, Johns Hopkins University School of Medicine, Baltimore, Maryland. PMID: 30140893 DOI: 10.1001/jamadermatol.2018.2549

101. Br J Dermatol. 2018 Aug 18. doi: 10.1111/bjd.17098. [Epub ahead of print] Autoantibody to transcriptional intermediary factor-1β as myositis-specific antibody: clinical correlation with CADM or DM with mild myopathy. Ueda-Hayakawa I1, Hamaguchi Y2, Okiyama N3, Motegi SI4, Yamaoka T5, Miyake S6, Higashi A7, Okamoto H1, Takehara K2, Fujimoto M3. 1Department of Dermatology, Kansai Medical University, Hirakata, Japan. 2Department of Dermatology, Faculty of Medicine, Institute of Medical Pharmaceutical and Health Science, Kanazawa University, Kanazawa, Japan. 3Department of Dermatology, Faculty of Medicine, University of Tsukuba, Tsukuba, Japan. 4Department of Dermatology, Gunma University Graduate School of Medicine, Maebashi, Japan. 5Department of Dermatology, Osaka University Graduate School of Medicine, Suita, Japan. 6Department of Dermatology, Faculty of Medicine, Kinki University, Osaka, Japan. 7Department of Dermatology, Toyama Red Cross Hospital, Toyama, Japan. KEYWORDS: Dermatomyositis; TRIM28; anti-transcriptional intermediary factor (TIF)-1β antibody; clinically amyopathic dermatomyositis; myositis-specific autoantibody PMID: 30120913 DOI:10.1111/bjd.17098

102. Curr Opin Rheumatol. 2018 Aug 16. doi: 10.1097/BOR.0000000000000538. [Epub ahead of print] Juvenile dermatomyositis: novel treatment approaches and outcomes. Varnier GC1, Pilkington CA1, Wedderburn LR1,2,3. 1Paediatric Rheumatology Department, Great Ormond Street Hospital for Children NHS Foundation Trust. 2Infection, Immunity and Inflammation, UCL Great Ormond Street Institute of Child Health. 3NIHR GOSH Biomedical Research Centre (BRC), London, UK. PMID: 30124602 DOI:10.1097/BOR.0000000000000538

103. Arthritis Res Ther. 2018 Aug 15;20(1):180. doi: 10.1186/s13075-018-1687-8. Clinical signs and symptoms in a joint model of four disease activity parameters in juvenile dermatomyositis: a prospective, longitudinal, multicenter cohort study. van Dijkhuizen EHP1,2,3, De Iorio M4, Wedderburn LR3,5,6, Deakin CT7; JDRG. Collaborators (105) 1Pediatric Rheumatology, University Medical Center Utrecht Wilhelmina Children's Hospital, Utrecht, The Netherlands. 2Pediatric Rheumatology, IRCCS G. Gaslini, Genoa, Italy. 3Paediatric Rheumatology, University College London GOS Institute of Child Health, 30 Guilford Street, London, WC1N 1EH, UK. 4Department of Statistical Science, University College London, London, UK. 5Great Ormond Street Hospital for Children, London, UK. 6NIHR GOSH Biomedical Research Centre (BRC), London, UK. 7Paediatric Rheumatology, University College London GOS Institute of Child Health, 30 Guilford Street, London, WC1N 1EH, UK. [email protected]. KEYWORDS: Bayesian model; Clinical associations; Disease activity; Juvenile dermatomyositis; Longitudinal data PMID: 30111380 PMCID: PMC6094880 DOI:10.1186/s13075-018-1687-8 Free PMC Article

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104. J Dermatol. 2018 Aug;45(8):1023-1025. doi: 10.1111/1346-8138.14518. Increased interleukin-9 levels in sera, muscle and skin of patients with dermatomyositis. Oishi K1, Matsushita T1, Takehara K1, Hamaguchi Y1. 1Department of Dermatology, Faculty of Medicine, Institute of Medical, Pharmaceutical and Health Sciences, Kanazawa University, Kanazawa, Japan. PMID: 30133800 DOI:10.1111/1346-8138.14518

105. Medicine (Baltimore). 2018 Aug;97(34):e11775. doi: 10.1097/MD.0000000000011775. STROBE: The correlation of Cyr61, CTGF, and VEGF with polymyositis/dermatomyositis. Chai KX1, Chen YQ2, Fan PL3, Yang J1, Yuan X1. 1Department of Rheumatism and Immunology, Affiliated Hospital of Qinghai University, Xining. 2Department of Rheumatism and Immunology, The People's Hospital of SND, Suzhou. 3Department of Medical Imaging Technology, West China School of Medicine and West China Hospital, Sichuan University, Chengdu, China. PMID: 30142763 DOI: 10.1097/MD.0000000000011775 [Indexed for MEDLINE] Free full text

106. Medicine (Baltimore). 2018 Aug;97(33):e11586. doi: 10.1097/MD.0000000000011586. Dermatomyositis as an extrahepatic manifestation of hepatitis B virus-related hepatocellular carcinoma: A case report and literature review. Han J1, Wang S1, Kwong TNY2, Liu J3. 1Institute of Hepatology, PLA Army General Hospital, Beijing, PR China. 2Department of Medicine and Therapeutic, Institute of Digestive Disease, The Chinese University of Hong Kong, Hong Kong. 3Department of Rheumatology, Aerospace Center Hospital, Beijing, PR China. PMID: 30113453 DOI:10.1097/MD.0000000000011586 [Indexed fo MEDLINE] Free full text

107. RMD Open. 2018 Jul 25;4(2):e000661. doi: 10.1136/rmdopen-2018-000661. eCollection 2018. Prevalence and clinical correlates of rheumatoid factor and anticitrullinated protein antibodies in patients with idiopathic . Ide V1, Bossuyt X2, Blockmans D3, De Langhe E1,4. 1Department of Rheumatology, University Hospitals Leuven, Leuven, Belgium. 2Department of Laboratory Medicine, University Hospitals Leuven, Leuven, Belgium. 3Department of General Internal Medicine, University Hospitals Leuven, Leuven, Belgium. 4Laboratory of Tissue Homeostasis and Repair, Department of Development and Regeneration, KU Leuven, Leuven, Belgium. KEYWORDS: anti-citrullinated protein antibodies (ACPA); antisynthetase syndrome (ASS); autoimmune myositis (AIM); idiopathic inflammatory myositis (IIM); rheumatoid factor (RF) PMID: 30116555 PMCID: PMC6088341 DOI: 10.1136/rmdopen-2018-000661 Free PMC Article

108. Cutis. 2018 Jul;102(1):E16-E18. Gottron papules mimicking dermatomyositis: an unusual manifestation of systemic lupus erythematosus. Ahn JW1, Yang S2, Johnson K3, Shwayder T4. 1University of Michigan, Ann Arbor, USA. 2Department of Dermatology, Thomas Jefferson University Hospital, Philadelphia, Pennsylvania, USA. 3Lakeshore Dermatology, Grand Rapids, Michigan, USA.

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4Department of Dermatology, Henry Ford Hospital, Detroit, Michigan, USA. PMID: 30138508

109. Eur J Dermatol. 2018 Jun 1;28(3):418-419. doi: 10.1684/ejd.2018.3287. Anti-MDA5 antibody-positive bullous dermatomyositis with thyroid carcinoma. Hayami T1, Teramura K1, Tanaka T1, Fujimoto N1. 1Department of Dermatology, Shiga University of Medical Science, Setatsukinowa, Otsu, Shiga 520-2192, Japan. PMID: 30105998 DOI: 10.1684/ejd.2018.3287

110. Rheumatology (Oxford). 2018 Aug 8. doi: 10.1093/rheumatology/key222. [Epub ahead of print] Expression of interleukin-18 in muscle tissue of patients with polymyositis or dermatomyositis and effects of conventional immunosuppressive treatment. Helmers SB1,2,3, Bruton M1,2, Loell I1,2, Ulfgren AK1,2, Gracie AJ4, McInnes IB4, Lundberg IE1,2. 1Department of Medicine, Unit of Rheumatology, Karolinska Institutet, Solna, Sweden. 2Unit of Rheumatology, Karolinska University Hospital, Solna, Sweden. 3Unit of Cardiovascular Epidemiology, Institute of Environmental Medicine, Karolinska Institutet, Solna, Sweden. 4Centre for Rheumatic Diseases, University of Glasgow, Glasgow, UK. PMID: 30102381 DOI: 10.1093/rheumatology/key222

111. Br J Dermatol. 2018 Aug 12. doi: 10.1111/bjd.17079. [Epub ahead of print] Measurement of cytokines, chemokines and association with clinical severity of DM/CADM disease. Chen M1, Quan C1, Diao L1, Xue F1, Xue K1, Wang B1, Li X1, Zhu X2, Zheng J1, Cao H1. 1Department of Dermatology, Rui Jin Hospital, School of Medicine, Shanghai Jiao Tong University, 200025, Shanghai, China. 2Department of Respiratory, Rui Jin Hospital, School of Medicine, Shanghai Jiao Tong University, 200025, Shanghai, China. PMID: 30101523 DOI:10.1111/bjd.17079

112. Mod Rheumatol. 2018 Aug 10:1-15. doi: 10.1080/14397595.2018.1511025. [Epub ahead of print] Clinical subsets of juvenile dermatomyositis classified by myositis-specific autoantibodies: Experience at a single center in Japan. Iwata N1, Nakaseko H1, Kohagura T1, Yasuoka R1, Abe N1, Kawabe S1, Sugiura S2, Muro Y3. 1a Department of Infection and Immunology , Aichi Children's Health and Medical Center , Obu , Japan. 2b Department of Allergy , Aichi Children's Health and Medical Center , Obu , Japan. 3c Department of Dermatology , Nagoya University Graduate School of Medicine , Nagoya , Japan. KEYWORDS: Juvenile Dermatomyositis; Myositis specific antibody; anti-MDA5; anti-NXP2; anti-TIF1-γ PMID: 30092736 DOI:10.1080/14397595.2018.1511025

113. Mod Rheumatol. 2018 Aug 10:1-16. doi: 10.1080/14397595.2018.1511026. [Epub ahead of print] Clinical significance of subcutaneous fat and fascial involvement in juvenile dermatomyositis.

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Sakurai N1,2, Hino-Shishikura A3, Nozawa T1, Kamide H3, Ohara A1, Nishimura K1, Kikuchi M1, Hara R1, Mori M4, Ito S1. 1a Department of Pediatrics , Yokohama City University, Graduate School of Medicine , Yokohama , Japan. 2b Department of Pediatrics , Sapporo Medical University , Sapporo , Japan. 3c Department of Radiology , Yokohama City University, Graduate School of Medicine , Yokohama , Japan. 4d Department of Lifetime Clinical Immunology , Tokyo Medical and Dental University , Tokyo , Japan. KEYWORDS: MRI; aldolase; fascia; juvenile dermatomyositis; subcutaneous fat PMID: 30092673 DOI: 10.1080/14397595.2018.1511026

114. Version 2. F1000Res. 2018 Jan 16 [revised 2018 Mar 26];7:60. doi: 10.12688/f1000research.13604.2. eCollection 2018. Case Report: Clinically amyopathic dermatomyositis presenting acutely with isolated facial edema. Pappa E1, Gkeka M1, Protogerou A1, Marinos L2, Loupa C1, Christopoulos C1. 1Department of Internal Medicine, Amalia Fleming General Hospital, Athens, 15127, Greece. 2Department of Hematopathology, Evangelismos General Hospital, Athens, 10376, Greece. KEYWORDS: amyopathic dermatomyositis; dermatomyositis; edema; inflammatory myopathy PMID: 29707197 PMCID:PMC5883386.2DOI:10.12688/f1000research.13604.2 Free PMC Article

115. AJR Am J Roentgenol. 2018 Aug 7:1-6. doi: 10.2214/AJR.17.19318. [Epub ahead of print] Simultaneous Multislice Accelerated Diffusion Tensor Imaging of Thigh Muscles in Myositis. Wang F1, Wu C2, Sun C1,3, Liu D1, Sun Y4, Wang Q2, Jin Z1. 1 Department of Radiology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, No. 1 Shuaifuyuan, Dongcheng District, Beijing, China. 2 Department of Rheumatology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, China. 3 Department of Radiology, Shenzhen Sun Yat-Sen Cardiovascular Hospital, Shenzhen, China. 4 Siemens Healthcare, MR Collaboration NE Asia, Shanghai, China. KEYWORDS: dermatomyositis; diffusion tensor imaging; polymyositis; simultaneous multislice; thigh muscles PMID: 30085833 DOI:10.2214/AJR.17.19318

116. Curr Opin Rheumatol. 2018 Aug 22. doi: 10.1097/BOR.0000000000000549. [Epub ahead of print] Recent developments in classification criteria and diagnosis guidelines for idiopathic inflammatory myopathies. Oldroyd A1,2,3, Chinoy H1,2,3. 1NIHR Manchester Musculoskeletal Biomedical Research Centre, Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre. 2Centre for Musculoskeletal Research, Manchester Academic Health Science Centre, The University of Manchester, Manchester. 3Rheumatology Department, Salford Royal NHS Foundation Trust, Manchester Academic Health Science Centre, Salford, UK. PMID:30138132 DOI:10.1097/BOR.0000000000000549

117. Neurotherapeutics. 2018 Aug 22. doi: 10.1007/s13311-018-0658-8. [Epub ahead of print] Inclusion Body Myositis: Update on Pathogenesis and Treatment. Naddaf E1, Barohn RJ2, Dimachkie MM3. 1Neuromuscular Medicine Division, Department of Neurology, Mayo Clinic, Rochester, Minnesota, 55905, USA. 2Neuromuscular Medicine Division, Department of Neurology, University of Kansas Medical Center, Kansas City, Kansas, 66103, USA. 3Neuromuscular Medicine Division, Department of Neurology, University of Kansas Medical Center, Kansas City, Kansas, 66103, USA. [email protected]. KEYWORDS: Inclusion body myositis; idiopathic inflammatory myopathies; immunotherapy; muscle homeostasis; neurodegenerative disorder.

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PMID:30136253 DOI: 10.1007/s13311-018-0658-8

118. Exp Neurol. 2018 Aug 18;309:169-180. doi: 10.1016/j.expneurol.2018.08.006. [Epub ahead of print] Muscle-dominant wild-type TDP-43 expression induces myopathological changes featuring tubular aggregates and TDP-43-positive inclusions. Tawara N1, Yamashita S2, Kawakami K1, Kurashige T3, Zhang Z1, Tasaki M1, Yamamoto Y1, Nishikami T1, Doki T1, Zhang X1, Matsuo Y1, Kimura E4, Tawara A1, Maeda Y5, Hauschka SD6, Maruyama H7, Ando Y1. 1Department of Neurology, Graduate School of Medical Sciences, Kumamoto University, 1-1-1 Honjo, Chuo-ku, Kumamoto 860-8556, Japan. 2Department of Neurology, Graduate School of Medical Sciences, Kumamoto University, 1-1-1 Honjo, Chuo-ku, Kumamoto 860-8556, Japan. Electronic address: [email protected]. 3Department of Neurology, National Hospital Organization Kure Medical Centre, 3-1 Aoyama-cho, Kure, Hiroshima 737- 0023, Japan; Department of Clinical Neuroscience and Therapeutics, Hiroshima University Graduate School of Biomedical and Health Sciences, 1-2-3 Kasumi, Minami-ku, Hiroshima 734-8551, Japan. 4Translational Medical Center, National Center of Neurology and Psychiatry, 4-1-1 Ogawahigashi, Kodaira 187-8551, Japan. 5Department of Clinical Research, and Department of Neurology, National Hospital Organization Kumamoto Saishunso National Hospital, 2659 Suya, Koshi, Kumamoto 861-1196, Japan. 6Department of Biochemistry, University of Washington, 1705 NE Pacific St., Seattle, WA 98195-7350, USA. 7Department of Clinical Neuroscience and Therapeutics, Hiroshima University Graduate School of Biomedical and Health Sciences, 1-2-3 Kasumi, Minami-ku, Hiroshima 734-8551, Japan. KEYWORDS: Calcium homeostasis; Creatine kinase 8 promoter; Endoplasmic reticulum stress; Sporadic inclusion body myositis; TAR DNA-binding protein of 43 kDa PMID: 30130494 DOI: 10.1016/j.expneurol.2018.08.006

119. Breathe (Sheff). 2018 Jun;14(2):e34-e39. doi: 10.1183/20734735.000118. New respiratory symptoms and lung imaging findings in a woman with polymyositis. Bolaki M1, Karagiannis K1, Bertsias G2, Mitrouska I1, Tzanakis N1, Antoniou KM1. 1Dept of Thoracic Medicine, Heraklion University Hospital, Medical School, University of Crete, Heraklion, Greece. 2Dept of Rheumatology, Heraklion University Hospital, Medical School, University of Crete, Heraklion, Greece. PMID: 30131832 PMCID: PMC6095235 DOI:10.1183/20734735.000118 Free PMC Article

120. Ann Rheum Dis. 2018 Sep;77(9):e64. doi: 10.1136/annrheumdis-2017-211468corr1. Correction: European League Against Rheumatism/American College of Rheumatology classification criteria for adult and juvenile idiopathic inflammatory myopathies and their major subgroups. [No authors listed] Erratum for 2017 European League Against Rheumatism/American College of Rheumatology classification criteria for adult and juvenile idiopathic inflammatory myopathies and their major subgroups. [Ann Rheum Dis. 2017] PMID: 30097512 DOI:10.1136/annrheumdis-2017-211468corr1

121. Arthritis Res Ther. 2018 Aug 9;20(1):176. doi: 10.1186/s13075-018-1678-9. Investigation of myositis and scleroderma specific autoantibodies in patients with lung cancer. Betteridge ZE1, Priest L2, Cooper RG3, McHugh NJ1,4, Blackhall F2,5, Lamb JA6. 1Department of Pharmacy and Pharmacology, University of Bath, Bath, UK.

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2Division of Molecular and Clinical Cancer Sciences, University of Manchester, Manchester, UK. 3MRC/ARUK Centre for Integrated Research into Musculoskeletal Ageing, University of Liverpool, Liverpool, UK. 4Royal National Hospital for Rheumatic Diseases, Royal United Hospitals Foundation Trust, Bath, UK. 5CRUK Lung Cancer Centre of Excellence, The Christie NHS Foundation Trust, Wilmslow Road, Manchester, UK. 6Centre for Epidemiology, Faculty of Biology, Medicine and Health, Manchester Academic Health Science Centre, University of Manchester, Manchester, UK. [email protected]. KEYWORDS: Anti-glycyl-tRNA synthetase; Autoantibodies; Cancer; Idiopathic inflammatory myopathies; Myositis; Scleroderma PMID: 30092841 PMCID:PMC6085683 DOI: 10.1186/s13075-018-1678-9 Free PMC Article

122. Neurology. 2018 Sep 4;91(10):e985-e994. doi: 10.1212/WNL.0000000000006124. Epub 2018 Aug 8. Immune checkpoint inhibitor-related myositis and myocarditis in patients with cancer. Touat M1, Maisonobe T2, Knauss S2, Ben Hadj Salem O2, Hervier B2, Auré K2, Szwebel TA2, Kramkimel N2, Lethrosne C2, Bruch JF2, Laly P2, Cadranel J2, Weiss N2, Béhin A2, Allenbach Y2, Benveniste O2, Lenglet T2, Psimaras D2, Stenzel W1, Léonard-Louis S2. 1From Sorbonne Université (M.T., D.P.), Inserm, CNRS, UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM, APHP, Hôpitaux Universitaires La Pitié Salpêtrière-Charles Foix, Service de Neurologie 2-Mazarin; OncoNeuroTox Group (M.T., T.M., N.W., T.L., D.P.), Center for Patients With Neurological Complications of Oncologic Treatments, Hôpitaux Universitaires Pitié-Salpetrière-Charles Foix et Hôpital Percy, Paris, France; Department of Oncologic Pathology (M.T.), Dana-Farber/Brigham and Women's Cancer Center, Harvard Medical School, Boston, MA; Service de Neuropathologie Raymond Escourolle (T.M., S.L.-L.), Départment de Neurophysiologie Clinique (T.M., T.L., S.L.-L.), Département de Médecine Interne et Immunologie Clinique (B.H., Y.A., O.B.), and Centre de Référence de Pathologie Neuromusculaire Paris-Est (B.H., A.B., Y.A., O.B., S.L.-L.), APHP, Hôpitaux Universitaires La Pitié Salpêtrière-Charles Foix, Paris, France; Charité-Universitatsmedizin Berlin Klinik fur Neurologie mit Experimenteller Neurologie (S.K.), Experimentelle Neurologie; Centrum fur Schlaganfallforschung Berlin (S.K.), Germany; Service de Réanimation Médicale (O.B.H.S.), Service de Médecine Interne (T.-A.S.), and Département de Dermatologie (N.K.), Hôpital Cochin, APHP, Hôpitaux Universitaires Paris Centre; Centre d'Immunologie et des Maladies Infectieuses (CIMI-Paris) (B.H.), Sorbonne Universités; Service d'Explorations Fonctionnelles (K.A.), APHP, Hôpital Ambroise Paré, Boulogne-Billancourt; Service de Pneumologie (C.L.) and Service d'Anatomie Pathologique (J.-F.B.), Centre Hospitalier Chartres-Louis-Pasteur, Le-Coudray; Service de Dermatologie (P.L.), APHP, Hôpital Saint Louis; Service de Pneumologie et Oncologie Thoracique (J.C.), Centre de Compétences pour les Maladies Pulmonaires Rares, APHP, Hôpital Tenon, Sorbonne Universités; Sorbonne Université (N.W.), Brain Liver Pitié-Salpêtrière (BLIPS) Study Group, INSERM, Centre de Recherche Saint-Antoine, APHP, Hôpitaux Universitaires La Pitié Salpêtrière-Charles Foix, Département de Neurologie, Unité de réanimation neurologique; Inserm UMR974 (Y.A., O.B.), Centre de recherche en myologie, Université Pierre-et-Marie-Curie, Sorbonnes Universités, Paris, France; and Department of Neuropathology (W.S.), Charité-Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health (BIH), Germany. [email protected] [email protected] [email protected]. 2From Sorbonne Université (M.T., D.P.), Inserm, CNRS, UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM, APHP, Hôpitaux Universitaires La Pitié Salpêtrière-Charles Foix, Service de Neurologie 2-Mazarin; OncoNeuroTox Group (M.T., T.M., N.W., T.L., D.P.), Center for Patients With Neurological Complications of Oncologic Treatments, Hôpitaux Universitaires Pitié-Salpetrière-Charles Foix et Hôpital Percy, Paris, France; Department of Oncologic Pathology (M.T.), Dana-Farber/Brigham and Women's Cancer Center, Harvard Medical School, Boston, MA; Service de Neuropathologie Raymond Escourolle (T.M., S.L.-L.), Départment de Neurophysiologie Clinique (T.M., T.L., S.L.-L.), Département de Médecine Interne et Immunologie Clinique (B.H., Y.A., O.B.), and Centre de Référence de Pathologie Neuromusculaire Paris-Est (B.H., A.B., Y.A., O.B., S.L.-L.), APHP, Hôpitaux Universitaires La Pitié Salpêtrière-Charles Foix, Paris, France; Charité-Universitatsmedizin Berlin Klinik fur Neurologie mit Experimenteller Neurologie (S.K.), Experimentelle Neurologie; Centrum fur Schlaganfallforschung Berlin (S.K.), Germany; Service de Réanimation Médicale (O.B.H.S.), Service de Médecine Interne (T.-A.S.), and Département de Dermatologie (N.K.), Hôpital Cochin, APHP, Hôpitaux Universitaires Paris Centre; Centre d'Immunologie et des Maladies Infectieuses (CIMI-Paris) (B.H.), Sorbonne Universités; Service d'Explorations Fonctionnelles (K.A.), APHP, Hôpital Ambroise Paré, Boulogne-Billancourt; Service de Pneumologie (C.L.) and Service d'Anatomie Pathologique (J.-F.B.), Centre Hospitalier Chartres-Louis-Pasteur, Le-Coudray; Service de Dermatologie (P.L.), APHP, Hôpital Saint Louis; Service de Pneumologie et Oncologie Thoracique (J.C.), Centre de Compétences pour les Maladies Pulmonaires Rares, APHP, Hôpital Tenon, Sorbonne Universités; Sorbonne Université (N.W.), Brain Liver Pitié-Salpêtrière (BLIPS) Study Group, INSERM, Centre de Recherche Saint-Antoine, APHP, Hôpitaux Universitaires La Pitié Salpêtrière-Charles Foix, Département de Neurologie, Unité de réanimation neurologique; Inserm UMR974 (Y.A., O.B.), Centre de recherche en myologie, Université Pierre-et-Marie-Curie, Sorbonnes Universités, Paris, France; and Department of Neuropathology (W.S.), Charité-Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health (BIH), Germany. PMID: 30089619 DOI:10.1212/WNL.0000000000006124

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123. Adv Clin Exp Med. 2018 Aug 8. doi: 10.17219/acem/69855. [Epub ahead of print] Challenges in diagnosis and treatment of sporadic inclusion-body myositis. Sebastian A1, Misterska-Skóra M1, Sebastian M2, Kręcichwost R3, Haczkiewicz K4. 1Department of Rheumatology and Internal Medicine, Faculty of Medicine, Wroclaw Medical University, Poland. 2Department of Minimally Invasive Surgery and Proctology, Faculty of Medicine, Wroclaw Medical University, Poland. 3Department of Ophthalmology, Faculty of Medicine, Wroclaw Medical University, Poland. 4Department of Histology and Embryology, Faculty of Medicine, Wroclaw Medical University, Poland. KEYWORDS: biomarker; early diagnosis; sporadic inclusion body myositis PMID: 30088352 DOI: 10.17219/acem/69855

Myopathies métaboliques – Metabolic myopathies 124. Prog Lipid Res. 2018 Aug 9;72:1-17. doi: 10.1016/j.plipres.2018.08.001. [Epub ahead of print] Lipid storage myopathies: Current treatments and future directions. Vasiljevski ER1, Summers MA2, Little DG1, Schindeler A3. 1Orthopaedic Research & Biotechnology, The Children's Hospital at Westmead, Westmead, NSW, Australia.; Discipline of Paediatrics & Child Heath, Faculty of Medicine, University of Sydney, Camperdown, NSW, Australia. 2Bone Biology Division, The Garvan Institute of Medical Research, Darlinghurst, NSW, Australia; St Vincent's Clinical School, University of New South Wales, Faculty of Medicine, Sydney, NSW, Australia. 3Orthopaedic Research & Biotechnology, The Children's Hospital at Westmead, Westmead, NSW, Australia.; Discipline of Paediatrics & Child Heath, Faculty of Medicine, University of Sydney, Camperdown, NSW, Australia. Electronic address: [email protected]. KEYWORDS: Diet; Lipid; Metabolism; Myopathy PMID: 30099045 DOI: 10.1016/j.plipres.2018.08.001

125. Indian J Pediatr. 2018 Aug 20. doi: 10.1007/s12098-018-2768-z. [Epub ahead of print] Multiple Acyl-CoA Dehydrogenase Deficiency in an Infant. Hu XM1, Li L2. 1Department of Pediatrics, Newborn Medicine, Children's Hospital, Capital Institute of Pediatrics, 2# Yabao Road, Beijing, China. 2Department of Pediatrics, Newborn Medicine, Children's Hospital, Capital Institute of Pediatrics, 2# Yabao Road, Beijing, China. [email protected]. PMID: 30128629 DOI:10.1007/s12098-018-2768-z

126. Arch Med Res. 2018 Aug 14. pii: S0188-4409(18)30258-3. doi: 10.1016/j.arcmed.2018.08.004. [Epub ahead of print] Selective Screening of Fatty Acids Oxidation Defects and Organic Acidemias by Liquid Chromatography/tandem Mass Spectrometry Acylcarnitine Analysis in Brazilian Patients. Vargas CR1, Ribas GS2, da Silva JM3, Sitta A2, Deon M2, de Moura Coelho D2, Wajner M4. 1Serviço de Genética Médica, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil; Faculdade de Farmácia, UFRGS, Porto Alegre, RS, Brazil; Programa de Pós-Graduação em Ciências Biológicas, Bioquímica, Faculdade de Farmácia, UFRGS, Porto Alegre, RS, Brazil; Programa de Pós-Graduação em Ciências Farmacêuticas, Faculdade de Farmácia, UFRGS, Porto Alegre, RS, Brazil. Electronic address: [email protected]. 2Serviço de Genética Médica, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil. 3Serviço de Genética Médica, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil; Faculdade de Farmácia, UFRGS, Porto Alegre, RS, Brazil. 4Serviço de Genética Médica, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil; Programa de Pós-Graduação em Ciências Biológicas, Bioquímica, Faculdade de Farmácia, UFRGS, Porto Alegre, RS, Brazil. KEYWORDS: Fatty acids oxidation defects; Inborn errors of metabolism; Liquid chromatography coupled to tandem mass spectrometry; Organic acidemias

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PMID:30119976 DOI: 10.1016/j.arcmed.2018.08.004

127. J Pediatr Endocrinol Metab. 2018 Aug 15. pii: /j/jpem.ahead-of-print/jpem-2018-0151/jpem- 2018-0151.xml. doi: 10.1515/jpem-2018-0151. [Epub ahead of print] A lower energetic, protein and uncooked cornstarch intake is associated with a more severe outcome in glycogen storage disease type III: an observational study of 50 patients. Ben Chehida A1,2, Ben Messaoud S3, Ben Abdelaziz R3, Mansouri H3, Boudabous H3, Hakim K4, Ben Ali N5, Ben Ameur Z3, Sassi Y3, Kaabachi N6, Abdelhak S7, Abdelmoula MS3, Azzouz H3, Tebib N3. 1Research Laboratory LR12SP02, Pediatric and Metabolic Department, La Rabta Hospital, Faculty of Medecine of Tunis, University of Tunis El Manar, Tunis, Tunisia. 2Tunisian Association for Studying Inherited Metabolic Diseases (General Secretary), La Rabta Hospital, 1007, Jabberi, Jebal Lakhdhar, Tunis, Tunisia. 3Research Laboratory LR12SP02, Pediatric and Metabolic Department, La Rabta Hospital, Faculty of Medecine of Tunis, University of Tunis El Manar, Jabberi, Jebal Lakhdhar, Tunis, Tunisia. 4Department of Pediatric Cardiology, La Rabta Hospital, Faculty of Medecine of Tunis, University of Tunis El Manar, Jabberi, Jebal Lakhdhar, Tunis, Tunisia. 5Department of Neurology, Charles Nicoles Hospital, University of Tunis El Manar, Jabberi, Jebal Lakhdhar, Tunis, Tunisia. 6Department of biochemistry, La Rabta Hospital, Faculty of Medecine of Tunis, University of Tunis El Manar, Jabberi, Jebal Lakhdhar, Tunis, Tunisia. 7Laboratory of Biomedical Genomics and Oncogenetics (LR11IPT05), Institut Pasteur de Tunis, University of Tunis El Manar, Tunis, Tunisia. KEYWORDS: cardiomyopathy; debranching enzyme deficiency; hyperlipemia; liver disease; neuromuscular diseases; nutrition PMID:30110253 DOI:10.1515/jpem-2018-0151

128. Rev Esp Cardiol (Engl Ed). 2018 Aug 11. pii: S1885-5857(18)30304-9. doi: 10.1016/j.rec.2018.04.035. [Epub ahead of print] Clinical Findings and Prognosis of Danon Disease. An Analysis of the Spanish Multicenter Danon Registry. [Article in English, Spanish] López-Sainz Á1, Salazar-Mendiguchía J2, García-Álvarez A3, Campuzano Larrea O4, López-Garrido MÁ5, García- Guereta L6, Fuentes Cañamero ME7, Climent Payá V8, Peña-Peña ML9, Zorio-Grima E10, Jordá-Burgos P3, Díez- López C11, Brugada R12, García-Pinilla JM5, García-Pavía P13. 1Unidad de Insuficiencia Cardiaca y Cardiopatías Familiares, Servicio de Cardiología, Hospital Universitario Puerta de Hierro Majadahonda, Majadahonda, Madrid, Spain; Centro de Investigación Biomédica en Red de Enfermedades Cardiovasculares (CIBERCV), Spain. 2Servicio de Cardiología, Hospital Universitari de Bellvitge, L'Hospitalet de Llobregat, Barcelona, Spain; Departamento de Genética, Universidad Autónoma de Barcelona, Barcelona, Spain. 3Servicio de Cardiología, Institut Clínic Cardiovascular, Hospital Clínic, Universitat de Barcelona, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Hospital Clínic, Barcelona, Spain. 4Centro de Investigación Biomédica en Red de Enfermedades Cardiovasculares (CIBERCV), Spain; Centro Genética Cardiovascular, Institut d'Investigacions Biomèdiques de Girona, Girona, Spain; Departamento Ciencias Médicas, Facultad de Medicina, Universidad de Girona, Girona, Spain. 5Centro de Investigación Biomédica en Red de Enfermedades Cardiovasculares (CIBERCV), Spain; Servicio de Cardiología, Hospital Universitario Virgen de la Victoria, Málaga, Spain. 6Servicio de Cardiología Pediátrica, Hospital Universitario La Paz, Madrid, Spain. 7Servicio de Cardiología, Hospital Infanta Cristina, Badajoz, Spain. 8Servicio de Cardiología, Hospital General Universitario de Alicante, Alicante, Spain; Instituto de Investigación Sanitaria y Biomédica de Alicante (ISABIAL), Alicante, Spain. 9Unidad de Imagen y Cardiopatías Familiares, Servicio de Cardiología, Hospital Universitario Virgen del Rocío, Sevilla, Spain. 10Unidad de Cardiopatías Familiares, Muerte Súbita y Mecanismos de Enfermedad (CaFaMuSMe), Instituto de Investigación Sanitaria La Fe, Valencia, Spain; Servicio de Cardiología, Hospital Universitario y Politécnico La Fe, Valencia, Spain. 11Servicio de Cardiología, Hospital Universitari de Bellvitge, L'Hospitalet de Llobregat, Barcelona, Spain.

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12Centro de Investigación Biomédica en Red de Enfermedades Cardiovasculares (CIBERCV), Spain; Centro Genética Cardiovascular, Institut d'Investigacions Biomèdiques de Girona, Girona, Spain; Departamento Ciencias Médicas, Facultad de Medicina, Universidad de Girona, Girona, Spain; Unidad Cardiopatías Familiares, Servicio de Cardiología, Hospital Universitari de Girona Dr. Josep Trueta, Girona, Spain. 13Unidad de Insuficiencia Cardiaca y Cardiopatías Familiares, Servicio de Cardiología, Hospital Universitario Puerta de Hierro Majadahonda, Majadahonda, Madrid, Spain; Centro de Investigación Biomédica en Red de Enfermedades Cardiovasculares (CIBERCV), Spain; Facultad de Ciencias de la Salud, Universidad Francisco de Vitoria (UFV), Pozuelo de Alarcón, Madrid, Spain. Electronic address: [email protected]. KEYWORDS: Alteraciones del aprendizaje; Danon disease; Enfermedad de Danon; Hypertrophic cardiomyopathy; Intellectual disability; Miocardiopatía hipertrófica; Miopatía; Myopathy; Pre-excitation; Preexcitación PMID: 30108015 DOI:10.1016/j.rec.2018.04.035

129. J Neuromuscul Dis. 2018;5(3):353-357. doi: 10.3233/JND-180320. Mastication and Oral Motor Function in McArdle Disease: Patient Reported Complaints. Kouwenberg CV1, Voermans NC1, Quinlivan R2, van den Engel-Hoek L3. 1Department of Neurology, Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Centre, Nijmegen, The Netherlands. 2MRC Centre for Neuromuscular Diseases and Department of Molecular Neuroscience, University College London Institute of Neurology and National Hospital for Neurology and Neurosurgery, Queen Square, London, UK. 3Department of Rehabilitation, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Centre, Nijmegen, The Netherlands. KEYWORDS: McArdle disease; glycogen storage disease type V; mastication; oral motor function PMID: 30103350 DOI:10.3233/JND-180320

Myopathies mitochondriales – Mitochondrial myopathies 130. Free Radic Biol Med. 2018 Aug 20;126:235-248. doi: 10.1016/j.freeradbiomed.2018.08.020. [Epub ahead of print] Different mitochondrial genetic defects exhibit the same protein signature of metabolism in of PEO and MELAS patients: A role for oxidative stress. Santacatterina F1, Torresano L1, Núñez-Salgado A2, Esparza-Molto PB1, Olive M3, Gallardo E4, García-Arumi E5, Blazquez A6, González-Quintana A6, Martín MA6, Cuezva JM7. 1Departamento de Biología Molecular, Centro de Biología Molecular Severo Ochoa, Consejo Superior de Investigaciones Científicas-Universidad Autónoma de Madrid (CSIC-UAM), Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), ISCIII, Spain; Instituto de Investigación Hospital, 12 de Octubre (i+12), Madrid, Spain. 2Departamento de Biología Molecular, Centro de Biología Molecular Severo Ochoa, Consejo Superior de Investigaciones Científicas-Universidad Autónoma de Madrid (CSIC-UAM), Spain. 3Servicio de Anatomía Patológica, Unidad Patología Neuromuscular, IDIBELL-Hospital Universitario de Bellvitge, Spain. 4Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), ISCIII, Spain; Institut de Recerca de l'Hospital de la Santa Creu i Sant Pau, Barcelona, Spain. 5Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), ISCIII, Spain; Laboratorio de Patología Mitocondrial y Neuromuscular, Área de Genética Clínica y Molecular, Hospital Universitari Vall d'Hebron Institut de Recerca (VHIR), Universitat Autònoma de Barcelona, Barcelona, Spain. 6Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), ISCIII, Spain; Instituto de Investigación Hospital, 12 de Octubre (i+12), Madrid, Spain; Laboratorio de Enfermedades Mitocondriales y Neuromusculares, Hospital Universitario, 12 de Octubre, Madrid, Spain. 7Departamento de Biología Molecular, Centro de Biología Molecular Severo Ochoa, Consejo Superior de Investigaciones Científicas-Universidad Autónoma de Madrid (CSIC-UAM), Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), ISCIII, Spain; Instituto de Investigación Hospital, 12 de Octubre (i+12), Madrid, Spain. Electronic address: [email protected]. KEYWORDS: Catalase; Metabolic ; Mitochondrial diseases; Mn-superoxide dismutase; Oxidative stress; Protein arrays PMID: 30138712 DOI: 10.1016/j.freeradbiomed.2018.08.020

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131. Congenit Heart Dis. 2018 Aug 21. doi: 10.1111/chd.12634. [Epub ahead of print] Mitochondrial DNA mutation "m.3243A>G"-Heterogeneous clinical picture for cardiologists ("m.3243A>G": A phenotypic chameleon). Niedermayr K1, Pölzl G2, Scholl-Bürgi S1, Fauth C3, Schweigmann U1, Haberlandt E1, Albrecht U1, Zlamy M1, Sperl W4, Mayr JA4, Karall D1. 1Department of Child and Adolescent Health, Pediatrics I/III, Medical University of Innsbruck, Innsbruck, Austria. 2University Hospital for Internal Medicine III, Cardiology and Angiology, Medical University of Innsbruck, Innsbruck, Austria. 3Department of Medical Genetics, Molecular and Clinical Pharmacology, Human Genetics Division, Medical University of Innsbruck, Innsbruck, Austria. 4University Children's Hospital, Paracelsus Medical University Salzburg, Salzburg, Austria. KEYWORDS: MELAS; adults; cardiomyopathy; children; m.3243A>G; PMID: 30133155 DOI:10.1111/chd.12634

132. Herz. 2018 Aug 20. doi: 10.1007/s00059-018-4739-6. [Epub ahead of print] The heart in m.3243A>G carriers. Finsterer J1, Zarrouk-Mahjoub S2. 1Krankenanstalt Rudolfstiftung, Postfach 20, 1180, Vienna, Austria. [email protected]. 2Pasteur Institute of Tunis, University of Tunis El Manar and Genomics Platform, Tunis, Tunisia. KEYWORDS: Arrhythmias; Cardiomyopathy; DNA, mitochondrial; MELAS syndrome; Maternally inherited PMID: 30128910DOI: 10.1007/s00059-018-4739-6

133. Front Neurol. 2018 Jul 27;9:621. doi: 10.3389/fneur.2018.00621. eCollection 2018. Correlation of Serum Biomarkers and Magnetic Resonance Spectroscopy in Monitoring Disease Progression in Patients With Mitochondrial Encephalomyopathy, , and Stroke-Like Episodes Due to mtDNA A3243G Mutation. Lee HN1, Yoon CS2, Lee YM1. 1Department of Pediatrics, Yonsei University College of Medicine, Seoul, South Korea. 2Department of Diagnostic Radiology, Yonsei University College of Medicine, Seoul, South Korea. KEYWORDS: lactate peak; magnetic resonance spectroscopy (MRS); mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS); ; pediatric; serum lactate PMID: 30140253PMCID: PMC6094978DOI: 10.3389/fneur.2018.00621 Free PMC Article

134. J Anaesthesiol Clin Pharmacol. 2018 Apr-Jun;34(2):269-271. doi: 10.4103/0970-9185.173379. Anesthetic management of a patient with MELAS. Thampi SM1, Srinivasan C1, George G1, Davis K1. 1Department of Anaesthesia, Christian Medical College and Hospital, Vellore, Tamil Nadu, India. PMID:30104853 PMCID:PMC6066873 DOI:10.4103/0970-9185.173379 Free PMC Article

135. Cell Metab. 2018 Aug 9. pii: S1550-4131(18)30455-8. doi: 10.1016/j.cmet.2018.07.012. [Epub ahead of print] Perturbed Redox Signaling Exacerbates a . Dogan SA1, Cerutti R1, Benincá C1, Brea-Calvo G2, Jacobs HT3, Zeviani M1, Szibor M4, Viscomi C5.

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1MRC Mitochondrial Biology Unit, University of Cambridge, Wellcome Trust/MRC Building Hills Road, Cambridge CB2 0XY, UK. 2Centro Andaluz de Biología del Desarrollo and CIBERER, Instituto de Salud Carlos III, Universidad Pablo de Olavide- CSIC-JA, Sevilla 41013, Spain. 3Institute of Biotechnology, University of Helsinki, Viikinkaari 5, Helsinki 00790, Finland; Faculty of Medicine and Life Sciences, University of Tampere, Arvo Ylpön katu 34, Tampere 33520, Finland. 4Institute of Biotechnology, University of Helsinki, Viikinkaari 5, Helsinki 00790, Finland; Faculty of Medicine and Life Sciences, University of Tampere, Arvo Ylpön katu 34, Tampere 33520, Finland. Electronic address: [email protected]. 5MRC Mitochondrial Biology Unit, University of Cambridge, Wellcome Trust/MRC Building Hills Road, Cambridge CB2 0XY, UK. Electronic address: [email protected]. KEYWORDS: ROS; alternative oxidase; antioxidant; autophagy; mitochondrial biogenesis; mitochondrial disease; redox signaling; satellite cells; stress responses PMID:30122554 DOI:10.1016/j.cmet.2018.07.012 Free full text

136. Mitochondrion. 2018 Aug 6. pii: S1567-7249(18)30014-X. doi: 10.1016/j.mito.2018.08.004. [Epub ahead of print] Combination of microdissection and single cell quantitative real-time PCR revealed intercellular mitochondrial DNA heterogeneities in fibroblasts of Kearns-Sayre syndrome patients. Kummer S1, Wilichowski E2. 1Mitochondrial Structure and Dynamics, Department of NanoBiophotonics, Max Planck Institute for Biophysical Chemistry, Göttingen, Germany. Electronic address: [email protected]. 2Department of Pediatrics and Pediatric Neurology, University Medical Center Göttingen, Georg-August-Universität Göttingen, Göttingen, Germany. KEYWORDS: Common deletion; Kearns-Sayre syndrome (KSS); Multiplex qRT-PCR; TaqMan ® probes PMID:30092295 DOI:10.1016/j.mito.2018.08.004

137. Neurobiol Dis. 2018 Aug 6;119:159-171. doi: 10.1016/j.nbd.2018.07.027. [Epub ahead of print] Loss of MICOS complex integrity and mitochondrial damage, but not TDP-43 mitochondrial localisation, are likely associated with severity of CHCHD10-related diseases. Genin EC1, Bannwarth S1, Lespinasse F1, Ortega-Vila B2, Fragaki K1, Itoh K3, Villa E4, Lacas-Gervais S5, Jokela M6, Auranen M7, Ylikallio E7, Mauri-Crouzet A1, Tyynismaa H8, Vihola A9, Augé G1, Cochaud C1, Sesaki H3, Ricci JE4, Udd B10, Vives-Bauza C2, Paquis-Flucklinger V11. 1Université Côte d'Azur, Inserm, CNRS, IRCAN, CHU de Nice, France. 2Research Health Institute of Balearic Islands (IdISB)-Research Unit, Son Espases, University Hospital, Spain. 3Department of Cell Biology, Johns Hopkins University Scholl of Medicine, Baltimore, MD, USA. 4Université Côte d'Azur, Inserm, C3M, France. 5Université Côte d'Azur, Centre Commun de Microscopie Appliquée, France. 6Neuromuscular Research Center, Tampere University and University Hospital, Tampere, Finland; Department of Clinical Neurosciences, Turku University Hospital, University of Turku, Turku, Finland. 7Clinical Neurosciences, Neurology, University of Helsinki, Helsinki University Hospital, Helsinki, Finland; Research Programs Unit, Molecular Neurology, University of Helsinki, Helsinki, Finland. 8Research Programs Unit, Molecular Neurology, University of Helsinki, Helsinki, Finland. 9Folkhälsan Institute of Genetics, Department of Medical Genetics, Haartman Institute, University of Helsinki, Helsinki, Finland. 10Neuromuscular Research Center, Tampere University and University Hospital, Tampere, Finland; Folkhälsan Institute of Genetics, Department of Medical Genetics, Haartman Institute, University of Helsinki, Helsinki, Finland. 11Université Côte d'Azur, Inserm, CNRS, IRCAN, CHU de Nice, France. Electronic address: [email protected]. KEYWORDS: CHCHD10; FTD-ALS; Mitochondria; SMAJ; TDP-43 PMID: 30092269 DOI:10.1016/j.nbd.2018.07.027

Syndromes myasthéniques congénitaux – Congenital myasthenic syndrome 138. J Clin Neuromuscul Dis. 2018 Sep;20(1):14-27. doi: 10.1097/CND.0000000000000222. Congenital Myasthenic Syndrome: Spectrum of Mutations in an Indian Cohort. Selvam P1, Arunachal G1, Danda S1, Chapla A2, Sivadasan A3, Alexander M3, Thomas MM3, Thomas NJ2.

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1Department of Medical Genetics, Christian Medical College, Vellore, India. 2Department of Endocrinology, Diabetes and Metabolism, Christian Medical College, Vellore, India. 3Department of Neurological Sciences, Christian Medical College, Vellore, India. PMID: 30124556 DOI:10.1097/CND.0000000000000222

139. Clin Nucl Med. 2018 Sep;43(9):697-698. doi: 10.1097/RLU.0000000000002192. Lambert-Eaton Myasthenic Syndrome Associated With Extrapulmonary Small Cell Cancer Detected by 18F- FDG PET/CT. Chen G, Fu Z1, Chen X1, Li Q2. 1Department of Nuclear Medicine, Peking University First Hospital, Beijing, China. 2Department of Radiology, Massachusetts General Hospital, Harvard Medical School, Boston, MA. PMID:30080186 DOI:10.1097/RLU.0000000000002192

Syndrome de Schwartz-Jampel – Schwartz-Jampel syndrome 140. Saudi J Anaesth. 2018 Jul-Sep;12(3):498-499. doi: 10.4103/sja.SJA_98_18. Schwartz-Jampel syndrome: Is risk of malignant hyperthermia the same as that of the general population? Ayeko MO1. 1King Faisal Specialist Hospital and Research Centre, Riyadh 12713, Saudi Arabia. PMID:30100861 PMCID: PMC6044147 DOI:10.4103/sja.SJA_98_18 Free PMC Article

Maladies du motoneurone (plusieurs pathologies) – Motor neuron diseases (several diseases) 141. Mol Neurobiol. 2018 Aug 17. doi: 10.1007/s12035-018-1305-4. [Epub ahead of print] Preconditioning and Cellular Engineering to Increase the Survival of Transplanted Neural Stem Cells for Motor Neuron Disease Therapy. Abati E1, Bresolin N1,2, Comi GP1,2, Corti S3,4. 1Dino Ferrari Centre, Department of Pathophysiology and Transplantation (DEPT), Neuroscience Section, University of Milan, Milan, Italy. 2Neurology Unit, Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, via F. Sforza 35, 20122, Milan, Italy. 3Dino Ferrari Centre, Department of Pathophysiology and Transplantation (DEPT), Neuroscience Section, University of Milan, Milan, Italy. [email protected]. 4Neurology Unit, Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, via F. Sforza 35, 20122, Milan, Italy. [email protected]. KEYWORDS: Amyotrophic lateral sclerosis; Cellular engineering; Motor neuron diseases; Neural stem cells; Preconditioning; Spinal muscular atrophy; Stem cell transplantation; Stem cells PMID:30120734 DOI:10.1007/s12035-018-1305-4

Dystrophies musculaires (plusieurs pathologies) – Muscular dystrophies (several diseases) 142. Hum Gene Ther. 2018 Aug 22. doi: 10.1089/hum.2018.151. [Epub ahead of print] Gene and cell and therapy for muscular dystrophies: are we getting there? Galli F1, Bragg L2, Meggiolaro L3, Rossi M4, Caffarini M5, Naz N6, Santoleri S7, Cossu G8. 1Manchester, United Kingdom of Great Britain and Northern Ireland ; [email protected]. 2Manchester, United Kingdom of Great Britain and Northern Ireland ; [email protected]. 3Manchester, United Kingdom of Great Britain and Northern Ireland ; [email protected]. 4Manchester, United Kingdom of Great Britain and Northern Ireland ; [email protected]. 5Universita Politecnica delle Marche, 9294, Ancona, Marche, Italy ; [email protected]. 6Manchester, United Kingdom of Great Britain and Northern Ireland ; [email protected]. 7Manchester, United Kingdom of Great Britain and Northern Ireland ; [email protected]. 8University of Manchester, Cell Matrix Biology and Regenerative Medicine , Michael Smith Building, D.4316 , Oxford Road. , Manchester, Greater Manchester, United Kingdom of Great Britain and Northern Ireland , M13 9PL ; [email protected]. PMID:30132372 DOI:10.1089/hum.2018.151

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143. Curr Opin Neurol. 2018 Oct;31(5):583-591. doi: 10.1097/WCO.0000000000000603. Bones and muscular dystrophies: what do we know? Wood CL1,2, Straub V1. 1The John Walton Muscular Dystrophy Research Centre and MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Newcastle University. 2Roslin Institute, Edinburgh University, Edinburgh, UK. PMID: 30080716 DOI: 10.1097/WCO.0000000000000603

Maladies neuromusculaires (plusieurs pathologies) – Neuromuscular diseases (several diseases) 144. Clin Res Cardiol. 2018 Aug 13. doi: 10.1007/s00392-018-1354-8. [Epub ahead of print] Genetic basis of hypertrophic cardiomyopathy in children. Rupp S1, Felimban M2, Schänzer A3, Schranz D2, Marschall C4, Zenker M5, Logeswaran T2, Neuhäuser C2, Thul J2, Jux C2, Hahn A6. 1Pediatric Heart Center, Justus-Liebig University, Feulgenstrasse 12, 35385, Giessen, Germany. [email protected]. 2Pediatric Heart Center, Justus-Liebig University, Feulgenstrasse 12, 35385, Giessen, Germany. 3Institute of Neuropathology, Justus-Liebig University, Giessen, Germany. 4Center of Human Genetics and Laboratory Diagnostics, Martinsried, Germany. 5Institute of Human Genetics, University Hospital, Otto-von-Guericke-University, Magdeburg, Germany. 6Department of Child Neurology, Justus-Liebig University, Giessen, Germany. KEYWORDS: Children; Hypertrophic cardiomyopathy; Next-generation sequencing PMID: 30105547 DOI:10.1007/s00392-018-1354-8

145. J Clin Neuromuscul Dis. 2018 Sep;20(1):28-34. doi: 10.1097/CND.0000000000000214. Autoimmune Neuromuscular Diseases Induced by Immunomodulating Drugs. Supakornnumporn S1, Katirji B. PMID:30124557 DOI:10.1097/CND.0000000000000214

146. Curr Neurol Neurosci Rep. 2018 Aug 4;18(10):63. doi: 10.1007/s11910-018-0878-7. Neuromuscular Complications of Programmed Cell Death-1 (PD-1) Inhibitors. Kao JC1, Brickshawana A2, Liewluck T3. 1Department of Neurology, Auckland City Hospital, Auckland, New Zealand. 2Department of Medicine, Montefiore Medical Center, Albert Einstein College of Medicine, Bronx, NY, USA. 3Department of Neurology, Mayo Clinic, 200 First Street SW, Rochester, MN, USA. [email protected]. KEYWORDS: Myasthenia gravis; Myositis; Neuropathy; Nivolumab; Pembrolizumab; Programmed cell death-1 (PD-1) inhibitors PMID:30078154 DOI:10.1007/s11910-018-0878-7

147. Eur Respir J. 2018 Aug 23. pii: 1800754. doi: 10.1183/13993003.00754-2018. [Epub ahead of print] Patterns of healthcare utilisation for respiratory complications of adults with neuromuscular disease: a population study. Rose L1,2,3,4, McKim D5,6,7, Leasa D8,9, Nonoyama M10,11,12, Tandon A13,14, Bai YQ14,15, Amin R14,16,17, Katz S18,19,20, Goldstein R21,22, Gershon A13,23,24. 1Critical Care Research, Sunnybrook Health Sciences Centre and Sunnybrook Research Institute.

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2Florence Nightingale Faculty of Nursing, Midwifery, and Palliative Care, Kings College London. 3Lawrence S. Bloomberg Faculty of Nursing and Faculty of Medicine, University of Toronto. 4Institute of Clinical Evaluative Sciences. 5The Ottawa Hospital Respiratory Rehabilitation and The Ottawa Hospital Sleep Centre. 6Ottawa Hospital Research Institute. 7Medicine, University of Ottawa. 8Department of Medicine, Divisions of Critical Care and Respirology London Health Sciences Centre. 9Medicine, Western University. 10University of Ontario Institute of Technology. 11Child Health Evaluative Sciences & Respiratory Therapy, SickKids. 12Rehabilitation Sciences & Physical Therapy, University of Toronto. 13Sunnybrook Health Sciences Centre. 14University of Toronto. 15Institute of Health Policy, Management and Evaluation. 16Division of Respiratory Medicine, SickKids. 17SickKids Research Institute. 18Division of Respirology, Children's Hospital of Eastern Ontario. 19Children's Hospital of Eastern Ontario Research Institute. 20University of Ottawa. 21West Park Healthcare Centre. 22Medicine and Physical Therapy, University of Toronto. 23Sunnybrook Research Institute and the Institute of Clinical Evaluative Sciences. 24Department of Medicine, University of Toronto. PMID:30139772 DOI:10.1183/13993003.00754-2018

148. Pediatr Pulmonol. 2018 Aug 21. doi: 10.1002/ppul.24145. [Epub ahead of print] Respiratory health service utilization of children with neuromuscular disease. Rose L1, McKim D2, Leasa D3, Nonoyama M4, Tandon A5, Bai YQ6, Goldstein R7, Amin R8, Katz S9, Gershon A10. 1Sunnybrook Health Sciences Centre and Sunnybrook Research Institute, Florence Nightingale Faculty of Nursing, Midwifery, and Palliative Care, Kings College London, Lawrence S. Bloomberg Faculty of Nursing and Faculty of Medicine, University of Toronto, Institute of Clinical Evaluative Sciences, Toronto, Ontario, Canada. 2The Ottawa Hospital Respiratory Rehabilitation and The Ottawa Hospital Sleep Centre, Ottawa Hospital Research Institute, University of Ottawa, Ottawa, Ontario, Canada. 3Department of Medicine, Divisions of Critical Care and Respirology London Health Sciences Centre, Western University, London, Ontario, Canada. 4University of Ontario Institute of Technology, Child Health Evaluative Sciences & Respiratory Therapy, SickKids, Rehabilitation Sciences & Physical Therapy, University of Toronto, Oshawa, Ontario, Canada. 5Sunnybrook Health Sciences Centre, University of Toronto, Toronto, Ontario, Canada. 6Institute of Health Policy, Management and Evaluation, University of Toronto, Toronto, Ontario, Canada. 7West Park Healthcare Centre, Faculty of Medicine, University of Toronto, Toronto, Ontario, Canada. 8Division of Respiratory Medicine, SickKids, SickKids Research Institute, University of Toronto, Toronto, Ontario, Canada. 9Division of Respirology, Children's Hospital of Eastern Ontario, Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada. 10Sunnybrook Health Sciences Centre, Sunnybrook Research Institute and the Institute of Clinical Evaluative Sciences, Department of Medicine, University of Toronto, Toronto, Ontario, Canada. KEYWORDS: chronic respiratory failure; epidemiology; health care utilization; neuromuscular disease PMID:30129703 DOI:10.1002/ppul.24145

149. J Neurol Sci. 2018 Aug 15;391:118-119. doi: 10.1016/j.jns.2018.06.014. Epub 2018 Jun 19. Some new proposals for the classification of inherited myopathies. Mathis S1, Tazir M2, Solé G1, Magy L3, Le Masson G1, Couratier P3, Ghorab K3, Duval F1, Lacoste I1, Goizet C4, Vallat JM5. 1Department of Neurology, Nerve-Muscle Unit (National reference center 'maladies neuromusculaires du grand sud- ouest'), University Hospital of Bordeaux (groupe hospitalier Pellegrin), Place Amélie Raba-Léon, 33000 Bordeaux, France. 2Department of Neurology, University Hospital Mustapha Bacha, Algiers, Algeria; Laboratoire de Neurosciences, University of Algiers 1, Algiers, Algeria. 3Department of Neurology (National reference center 'neuropathies périphériques rares'), University Hospital Dupuytren, 2 avenue Martin Luther King, 87042 Limoges, France.

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4Department of Medical Genetics (National reference center 'maladies neuromusculaires du grand sud-ouest'), University Hospital of Bordeaux (groupe hospitalier Pellegrin), place Amélie Raba-Léon, 33076 Bordeaux, France; MRGM Laboratory, INSERM U1211, University of Bordeaux, place Amélie Raba-Léon, 33076 Bordeaux, France. 5Department of Neurology (National reference center 'neuropathies périphériques rares'), University Hospital Dupuytren, 2 avenue Martin Luther King, 87042 Limoges, France. Electronic address: [email protected]. PMID:30103959 DOI:10.1016/j.jns.2018.06.014

150. Lancet Child Adolesc Health. 2018 Aug;2(8):600-609. doi: 10.1016/S2352-4642(18)30140-8. Epub 2018 Jun 27. Genetic therapies for inherited neuromuscular disorders. Scoto M1, Finkel R2, Mercuri E3, Muntoni F4. 1Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health, London, UK. 2Division of Pediatric Neurology, Nemours Children's Hospital, University of Central Florida College of Medicine, Orlando, FL, USA. 3Pediatric Neurology and Centro Nemo, IRCSS Fondazione Policlinico Gemelli, Università Cattolica del Sacro Cuore, Rome, Italy. 4Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health, London, UK; National Institute for Health Research Great Ormond Street Hospital Biomedical Research Centre, London, UK. Electronic address: [email protected]. PMID:30119719 DOI:10.1016/S2352-4642(18)30140-8

151. Cureus. 2018 Jun 13;10(6):e2800. doi: 10.7759/cureus.2800. Referring Service Effect on Muscle Biopsy Diagnosis and Management in Myopathy. Tenny SO1, Schmidt KP1, Follett KA1. 1Neurosurgery, University of Nebraska Medical Center, Omaha, USA. KEYWORDS: diagnostic yield; muscle biopsy; referring service; therapeutic yield; therapeutically useful PMID:30116679 PMCID:PMC6089701 DOI:10.7759/cureus.2800 Free PMC Article

152. Neuromuscul Disord. 2018 Jul 1. pii: S0960-8966(18)30128-7. doi: 10.1016/j.nmd.2018.06.013. [Epub ahead of print] Respiratory insight to congenital muscular dystrophies and congenital myopathies and its relation to clinical trial. Fauroux B1, Amaddeo A2, Quijano-Roy S3, Barnerias C4, Desguerre I5, Khirani S6. 1Pediatric noninvasive ventilation and sleep unit, Necker university hospital, AP-HP, 149 rue de Sèvres, 75015 Paris, France; Paris Descartes University, Paris, France; Research unit Inserm U955, Equipe 13, Créteil, France. Electronic address: [email protected]. 2Pediatric noninvasive ventilation and sleep unit, Necker university hospital, AP-HP, 149 rue de Sèvres, 75015 Paris, France; Paris Descartes University, Paris, France; Research unit Inserm U955, Equipe 13, Créteil, France. 3Pediatric Department, Centre de Référence Maladies Neuromusculaires (GNMH), Raymond Poincaré Hôpital, AP-HP, Garches, Université Versailles UVSQ Inserm, UMRS_974, Paris, France. 4Pediatric neurology department, Centre de Référence Maladies Neuromusculaires (GNMH), Necker university hospital, AP-HP, Paris, France. 5Paris Descartes University, Paris, France; Pediatric neurology department, Centre de Référence Maladies Neuromusculaires (GNMH), Necker university hospital, AP-HP, Paris, France. 6Pediatric noninvasive ventilation and sleep unit, Necker university hospital, AP-HP, 149 rue de Sèvres, 75015 Paris, France; ASV Santé, Gennevilliers, France. KEYWORDS: Child; Congenital muscular dystrophies; Congenital myopathies; Lung function; Respiratory muscles; Sniff nasal inspiratory pressure PMID:30097248 DOI:10.1016/j.nmd.2018.06.013

153. Mol Genet Metab Rep. 2018 Aug 1;16:76-81. doi: 10.1016/j.ymgmr.2018.07.007. eCollection 2018 Sep.

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Pathogenic and rare deleterious variants in multiple genes suggest oligogenic inheritance in recurrent exertional rhabdomyolysis. Sambuughin N1, Mungunsukh O2, Ren M1, Capacchione JF3, Horkayne-Szakaly I4, Chuang K1, Muldoon SM2, Smith JK5, O'Connor FG1, Deuster PA1. 1Consortium for Health and Military Performance, Department of Military and Emergency Medicine, Uniformed Services University, Bethesda, MD 20814, United States. 2Department of Anesthesiology, Uniformed Services University, Bethesda, MD 20814, United States. 3Department of Anesthesiology, University of Minnesota, Minneapolis, MN, United States. 4Neurology and Ophthalmology, Joint Pathology Center, Defense Health Agency, Silver Spring, MD 20910, United States. 5Department of Neurology, Walter Read National Military Medical Center, Bethesda, MD 20889, United States. KEYWORDS: Exertional rhabdomyolysis; Metabolic disorders; Mitochondrial diseases; Multiple genetic variants; Oligogenic inheritance; Synergistic heterozygosity PMID:30094188 PMCID:PMC6072915 DOI:10.1016/j.ymgmr.2018.07.007 Free PMC Article

Divers – Miscellaneous 154. Curr Protoc Mouse Biol. 2018 Sep;8(3):e49. doi: 10.1002/cpmo.49. Epub 2018 Aug 14. Critical Assessment of the mdx Mouse with Ex Vivo Eccentric Contraction of the Diaphragm Muscle. Addicks GC1, Marshall P1, Jasmin BJ2, Renaud JM2, Zhang H3, Menzies KJ1,4. 1Interdisciplinary School of Health Sciences, University of Ottawa Brain and Mind Research Institute and Centre for Neuromuscular Disease, Ottawa, Ontario, Canada. 2Cellular and Molecular Medicine Department, Centre for Neuromuscular Disease, University of Ottawa, Ottawa, Ontario, Canada. 3Key Laboratory for Stem Cells and Tissue Engineering, Ministry of Education, and The Department of Histology and Embryology of Zhongshan School of Medicine, Sun-Yat Sen University, Guangzhou, China. 4Department of Biochemistry, Microbiology and Immunology and Ottawa Institute of Systems Biology, Faculty of Medicine, University of Ottawa, Ottawa, Ontario, Canada. KEYWORDS: contraction-induced injury; eccentric muscle contraction; muscle force; muscular dystrophy PMID: 30106518 DOI:10.1002/cpmo.49

155. Pediatr Radiol. 2018 Aug;48(9):1348-1363. doi: 10.1007/s00247-018-4141-9. Epub 2018 Aug 4. Whole-body magnetic resonance imaging: techniques and non-oncologic indications. Greer MC1,2. 1Department of Diagnostic Imaging, The Hospital for Sick Children, 555 University Ave., Toronto, ON,, M5G 1X8, Canada. [email protected]. 2Department of Medical Imaging, University of Toronto, Toronto, ON, Canada. [email protected]. KEYWORDS: Children; Chronic recurrent multifocal osteomyelitis; Enthesitis-related arthritis; Myopathy; Osteomyelitis; Postmortem; Whole-body magnetic resonance imaging PMID:30078041 DOI:10.1007/s00247-018-4141-9

156. Neurol Clin Pract. 2017 Jun;7(3):266-273. doi: 10.1212/CPJ.0000000000000368. The use of ultrasound in neuromuscular diagnoses. Hommel AL1, Cartwright MS1, Walker FO1. 1Wake Forest School of Medicine, Winston Salem, NC. PMID:30107010 PMCID:PMC6081967 DOI:10.1212/CPJ.0000000000000368 Free PMC Article

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Certaines références présentées par maladies sont triées ci-dessous par spécialités. Some of citations presented by diseases are sorted below by specialties.

Cardiologie – Cardiology Nat Commun. 2018 Aug 24;9(1):3431. doi: 10.1038/s41467-018-05910-1. NF-κB inhibition rescues cardiac function by remodeling calcium genes in a Duchenne muscular dystrophy model. Peterson JM1,2,3,4, Wang DJ1,3,5, Shettigar V2,3,6, Roof SR2,3,6,7, Canan BD2,3,6, Bakkar N1,2,3,8, Shintaku J1,2,3,9, Gu JM1,2,3,10, Little SC2,3,6,11, Ratnam NM1,3, Londhe P1,2,3,12, Lu L13,14, Gaw CE3,15, Petrosino JM2,3, Liyanarachchi S1,3, Wang H13, Janssen PML2,3,6, Davis JP2,3,6, Ziolo MT2,3,6, Sharma SM16, Guttridge DC17,18,19,20. 1Department of Cancer Biology and Genetics, Columbus, OH, 43210, USA. 2Center for Muscle Health and Neuromuscular Disorders, Columbus, OH, 43210, USA. 3The Ohio State University Medical Center, Columbus, OH, 43210, USA. 4Department of Pharmacy and Pharmaceutical Sciences, SUNY Binghamton University, Binghamton, NY, 13902, USA. 5Department of Pediatrics, Medical University of South Carolina, Charleston, South Carolina, 29425, USA. 6Department of Physiology and Cell Biology, The Ohio State University Medical Center, Columbus, 43210, Ohio, USA. 7Q Test Labs, Columbus, OH, 43235, USA. 8Department of Neurobiology, St Joseph's Hospital and Medical Center-Barrow Neurological Institute, Phoenix, AZ, 85013, USA. 9Department of Neurology, Columbia University Medical Center, New York, NY, 10032, USA. 10Department of Biomedical Engineering and Pediatrics, Emory University, Decatur, GA, 30322, USA. 11Bristol-Myers Squibb, Wallingford, CT, 06492, USA. 12Molecular Oncology Research Institute, Tufts Medical Center, Boston, MA, 02111, USA. 13Li Ka Shing Institute of Health Sciences, The Chinese University of Hong Kong, Hong Kong, China. 14Department of Genetics and Genome Sciences, Case Western Reserve University, Cleveland, OH, 44106, USA. 15Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA. 16Department of Biochemistry and Molecular Biology, Medical University of South Carolina, Charleston, SC, 29425, USA. 17Department of Cancer Biology and Genetics, Columbus, OH, 43210, USA. [email protected]. 18Center for Muscle Health and Neuromuscular Disorders, Columbus, OH, 43210, USA. [email protected]. 19The Ohio State University Medical Center, Columbus, OH, 43210, USA. [email protected]. 20Department of Pediatrics, Medical University of South Carolina, Charleston, South Carolina, 29425, USA. [email protected]. PMID: 30143619 PMCID: PMC6109146 DOI: 10.1038/s41467-018-05910-1 Free PMC Article

Am J Physiol Heart Circ Physiol. 2018 Aug 17. doi: 10.1152/ajpheart.00341.2018. [Epub ahead of print] Exacerbation of dystrophic cardiomyopathy by phospholamban deficiency-mediated chronically increased cardiac Ca2+ cycling in vivo. Law ML1, Prins KW2, Olander ME1, Metzger JM3. 1Department of Integrative Biology and Physiology, University of Minnesota. 2Department of Medicine, University of Minnesota. 3Department of Integrative Biology and Physiology, University of Minnesota, United States. KEYWORDS: Duchenne muscular dystrophy; calcium; dystrophin; heart; mdx PMID: 30118340 DOI:10.1152/ajpheart.00341.2018

Neuromuscul Disord. 2018 Jun 6. pii: S0960-8966(17)31343-3. doi: 10.1016/j.nmd.2018.05.011. [Epub ahead of print] Imaging the heart to detect cardiomyopathy in Duchenne muscular dystrophy: A review. Power LC1, O'Grady GL2, Hornung TS3, Jefferies C4, Gusso S5, Hofman PL6. 1Paediatric Neurology Department, Starship Children's Hospital, Auckland, New Zealand; Paediatric Endocrinology Department, Starship Children's Hospital, Auckland, New Zealand; Liggins Institute, University of Auckland, Auckland, New Zealand. 2Paediatric Neurology Department, Starship Children's Hospital, Auckland, New Zealand. Electronic address: [email protected]. 3Paediatric Cardiology Department, Starship Children's Hospital, Auckland, New Zealand. 4Paediatric Endocrinology Department, Starship Children's Hospital, Auckland, New Zealand.

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5Liggins Institute, University of Auckland, Auckland, New Zealand. 6Paediatric Endocrinology Department, Starship Children's Hospital, Auckland, New Zealand; Liggins Institute, University of Auckland, Auckland, New Zealand. KEYWORDS: Cardiac magnetic resonance imaging; Cardiomyopathy; Duchenne muscular dystrophy; Heart failure; Transthoracic echocardiography PMID: 30119965 DOI:10.1016/j.nmd.2018.05.011

Cardiovasc Pathol. 2018 Jul 26;36:64-70. doi: 10.1016/j.carpath.2018.07.002. [Epub ahead of print] A novel mutation of dystrophin in a Becker muscular dystrophy family with severe cardiac involvement: from genetics to clinicopathology. Chen L1, Ren J1, Chen X1, Chen K1, Rao M1, Zhang N1, Yu W1, Song J2. 1State Key Laboratory of Cardiovascular Disease, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College. 2State Key Laboratory of Cardiovascular Disease, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College. Electronic address: [email protected]. KEYWORDS: BMD; Cardiomyopathy; Dystrophin; Fibrofatty replacement PMID: 30103083 DOI:10.1016/j.carpath.2018.07.002

Ann Noninvasive Electrocardiol. 2018 Aug 12:e12587. doi: 10.1111/anec.12587. [Epub ahead of print] Twenty-four-hour ambulatory ECG monitoring relevancy in myotonic dystrophy type 1 follow-up: Prognostic value and heart rate variability evolution. Gamet A1, Degand B1, Le Gal F1, Bidegain N1, Delaubier A2, Gilbert-Dussardier B3, Christiaens L1,4, Garcia R1,4. 1Department of Cardiology, CHU Poitiers, Poitiers, France. 2Department of Physical Medicine and Rehabilitation, CHU Poitiers, Poitiers, France. 3Department of Genetics, CHU Poitiers, Poitiers, France. 4Univ Poitiers, Poitiers, France. KEYWORDS: Holter monitoring; ambulatory electrocardiography; autonomic nervous system; heart rate variability; myopathy; type 1 myotonic dystrophy PMID: 30101452 DOI:10.1111/anec.12587

Neurol Sci. 2018 Aug 9. doi: 10.1007/s10072-018-3530-z. [Epub ahead of print] Diastolic heart dysfunction is correlated with CTG repeat length in myotonic dystrophy type 1. Park JS1, Kim N2, Park D3. 1Department of Neurology, School of Medicine, Kyungpook National University Chilgok hospital, Daegu, South Korea. 2Department of Internal Medicine, Kyungpook National University, School of Medicine, Daegu, South Korea. 3Department of Rehabilitation Medicine, Daegu Fatima Hospital, Ayangro 99, Dong gu, Daegu, 41199, Republic of Korea. [email protected]. KEYWORDS: Aerobic exercise; CTG repeat; Left ventricle diastolic dysfunction; Myocardial dysfunction; Myotonia; Myotonic dystrophy type 1 PMID: 30094526 DOI: 10.1007/s10072-018-3530-z

Nucleus. 2018 Aug 21. doi: 10.1080/19491034.2018.1506680. [Epub ahead of print] Cardiolaminopathies from bench to bedside: challenges in clinical decision-making with focus on arrhythmia-related outcomes. Boriani G1, Biagini E2, Ziacchi M2, Malavasi VL1, Vitolo M1, Talarico M1, Mauro E1, Gorlato G1, Lattanzi G3,4. 1a Cardiology Division, Department of Biomedical, Metabolic and Neural Sciences , University of Modena and Reggio Emilia, Policlinico di Moden , Modena , Italy. 2b Institute of Cardiology, Department of Experimental , Diagnostic and Specialty Medicine, University of Bologna, S.Orsola-Malpighi University Hospital , Bologna , Italy. 3c CNR Institute of Molecular Genetics , Unit of Bologna. 4d Rizzoli Orthopedic Institute , Bologna , Italy. KEYWORDS: Arrhythmia; Emerin; Emery-Dreifuss muscular dystrophy; Heart failure; Lamin A/C; Stroke; Sudden cardiac death; Thromboembolism PMID: 30130999 DOI:10.1080/19491034.2018.1506680

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Congenit Heart Dis. 2018 Aug 21. doi: 10.1111/chd.12634. [Epub ahead of print] Mitochondrial DNA mutation "m.3243A>G"-Heterogeneous clinical picture for cardiologists ("m.3243A>G": A phenotypic chameleon). Niedermayr K1, Pölzl G2, Scholl-Bürgi S1, Fauth C3, Schweigmann U1, Haberlandt E1, Albrecht U1, Zlamy M1, Sperl W4, Mayr JA4, Karall D1. 1Department of Child and Adolescent Health, Pediatrics I/III, Medical University of Innsbruck, Innsbruck, Austria. 2University Hospital for Internal Medicine III, Cardiology and Angiology, Medical University of Innsbruck, Innsbruck, Austria. 3Department of Medical Genetics, Molecular and Clinical Pharmacology, Human Genetics Division, Medical University of Innsbruck, Innsbruck, Austria. 4University Children's Hospital, Paracelsus Medical University Salzburg, Salzburg, Austria. KEYWORDS: MELAS; adults; cardiomyopathy; children; m.3243A>G; mitochondrial disease PMID: 30133155 DOI:10.1111/chd.12634

Herz. 2018 Aug 20. doi: 10.1007/s00059-018-4739-6. [Epub ahead of print] The heart in m.3243A>G carriers. Finsterer J1, Zarrouk-Mahjoub S2. 1Krankenanstalt Rudolfstiftung, Postfach 20, 1180, Vienna, Austria. [email protected]. 2Pasteur Institute of Tunis, University of Tunis El Manar and Genomics Platform, Tunis, Tunisia. KEYWORDS: Arrhythmias; Cardiomyopathy; DNA, mitochondrial; MELAS syndrome; Maternally inherited diabetes and deafness PMID: 30128910DOI: 10.1007/s00059-018-4739-6

Clin Res Cardiol. 2018 Aug 13. doi: 10.1007/s00392-018-1354-8. [Epub ahead of print] Genetic basis of hypertrophic cardiomyopathy in children. Rupp S1, Felimban M2, Schänzer A3, Schranz D2, Marschall C4, Zenker M5, Logeswaran T2, Neuhäuser C2, Thul J2, Jux C2, Hahn A6. 1Pediatric Heart Center, Justus-Liebig University, Feulgenstrasse 12, 35385, Giessen, Germany. [email protected]. 2Pediatric Heart Center, Justus-Liebig University, Feulgenstrasse 12, 35385, Giessen, Germany. 3Institute of Neuropathology, Justus-Liebig University, Giessen, Germany. 4Center of Human Genetics and Laboratory Diagnostics, Martinsried, Germany. 5Institute of Human Genetics, University Hospital, Otto-von-Guericke-University, Magdeburg, Germany. 6Department of Child Neurology, Justus-Liebig University, Giessen, Germany. KEYWORDS: Children; Hypertrophic cardiomyopathy; Next-generation sequencing PMID: 30105547 DOI:10.1007/s00392-018-1354-8

Douleur – Pain Open Access Maced J Med Sci. 2018 Jul 13;6(7):1278-1281. doi: 10.3889/oamjms.2018.192. eCollection 2018 Jul 20. A Case of Orbital Myositis Presenting With Dizziness. Aquilina N1, Bugeja V1, Zahra C1. 1St Vincent de Paul, Ingiered Road, Luqa, Malta. KEYWORDS: Complex ophthalmoplegia; Dizziness; Pain; Steroids; Unilateral PMID: 30087737 PMCID: PMC6062292 DOI: 10.3889/oamjms.2018.192 Free PMC Article

Électromyographie – Electromyography J Pediatr Orthop. 2018 Aug 21. doi: 10.1097/BPO.0000000000001247. [Epub ahead of print]

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Preliminary Safety and Tolerability of a Novel Subcutaneous Intrathecal Catheter System for Repeated Outpatient Dosing of Nusinersen to Children and Adults With Spinal Muscular Atrophy. Strauss KA1, Carson VJ1, Brigatti KW1, Young M1, Robinson DL1, Hendrickson C1, Fox MD2,3, Reed RM4, Puffenberger EG1, Mackenzie W2,5, Miller F2,5. 1Clinic for Special Children, Strasburg. 2Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE. 3Department of Pediatrics, Sidney Kimmel Medical College at Thomas Jefferson University. 4University of Maryland School of Medicine, Baltimore, MD. 5Department of Orthopedics, Sidney Kimmel Medical College at Thomas Jefferson University, Philadelphia, PA. PMID: 30134351 DOI: 10.1097/BPO.0000000000001247

Front Neurol. 2018 Jul 23;9:571. doi: 10.3389/fneur.2018.00571. eCollection 2018. A Novel Mutation of GARS in a Chinese Family With Distal Hereditary Motor Neuropathy Type V. Yu X1, Chen B1, Tang H1, Li W1, Fu Y2, Zhang Z1, Yan Y2. 1Department of Neurology, China National Clinical Research Center for Neurological Diseases, Beijing Tiantan Hospital, Capital Medical University, Beijing, China. 2Key Laboratory of the Ministry of Education for Medicinal Resources and Natural Pharmaceutical Chemistry, National Engineering Laboratory for Resource Development of Endangered Crude Drugs in Northwest of China, College of Life Sciences, Shaanxi Normal University, Xi'an, China. KEYWORDS: CMT2D; GARS gene; Novel mutation; dHMN-V; silico analysis PMID: 30083128 PMCID:PMC6064823 DOI: 10.3389/fneur.2018.00571 Free PMC Article

IEEE Trans Neural Syst Rehabil Eng. 2018 Aug 23. doi: 10.1109/TNSRE.2018.2866956. [Epub ahead of print] Evaluation of Control Interfaces for Active Trunk Support. Verros S, Mahmood N, Peeters L, Lobo-Prat J, Bergsma A, Hekman E, Verkerke GJ, Koopman B. PMID:30137011 DOI:10.1109/TNSRE.2018.2866956

Clin Nucl Med. 2018 Sep;43(9):697-698. doi: 10.1097/RLU.0000000000002192. Lambert-Eaton Myasthenic Syndrome Associated With Extrapulmonary Small Cell Cancer Detected by 18F- FDG PET/CT. Chen G, Fu Z1, Chen X1, Li Q2. 1Department of Nuclear Medicine, Peking University First Hospital, Beijing, China. 2Department of Radiology, Massachusetts General Hospital, Harvard Medical School, Boston, MA. PMID:30080186 DOI:10.1097/RLU.0000000000002192

Gastroentérologie / Nutrition – Gastroenterology / Nutrition J Pediatr Endocrinol Metab. 2018 Aug 15. pii: /j/jpem.ahead-of-print/jpem-2018-0151/jpem-2018- 0151.xml. doi: 10.1515/jpem-2018-0151. [Epub ahead of print] A lower energetic, protein and uncooked cornstarch intake is associated with a more severe outcome in glycogen storage disease type III: an observational study of 50 patients. Ben Chehida A1,2, Ben Messaoud S3, Ben Abdelaziz R3, Mansouri H3, Boudabous H3, Hakim K4, Ben Ali N5, Ben Ameur Z3, Sassi Y3, Kaabachi N6, Abdelhak S7, Abdelmoula MS3, Azzouz H3, Tebib N3. 1Research Laboratory LR12SP02, Pediatric and Metabolic Department, La Rabta Hospital, Faculty of Medecine of Tunis, University of Tunis El Manar, Tunis, Tunisia. 2Tunisian Association for Studying Inherited Metabolic Diseases (General Secretary), La Rabta Hospital, 1007, Jabberi, Jebal Lakhdhar, Tunis, Tunisia. 3Research Laboratory LR12SP02, Pediatric and Metabolic Department, La Rabta Hospital, Faculty of Medecine of Tunis, University of Tunis El Manar, Jabberi, Jebal Lakhdhar, Tunis, Tunisia. 4Department of Pediatric Cardiology, La Rabta Hospital, Faculty of Medecine of Tunis, University of Tunis El Manar, Jabberi, Jebal Lakhdhar, Tunis, Tunisia.

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5Department of Neurology, Charles Nicoles Hospital, University of Tunis El Manar, Jabberi, Jebal Lakhdhar, Tunis, Tunisia. 6Department of biochemistry, La Rabta Hospital, Faculty of Medecine of Tunis, University of Tunis El Manar, Jabberi, Jebal Lakhdhar, Tunis, Tunisia. 7Laboratory of Biomedical Genomics and Oncogenetics (LR11IPT05), Institut Pasteur de Tunis, University of Tunis El Manar, Tunis, Tunisia. KEYWORDS: cardiomyopathy; debranching enzyme deficiency; hyperlipemia; liver disease; neuromuscular diseases; nutrition PMID:30110253 DOI:10.1515/jpem-2018-0151

Rev Assoc Med Bras (1992). 2018 Apr;64(4):311-314. doi: 10.1590/1806-9282.64.04.311. Gluten and Neuroimmunology. Rare association with Myasthenia Gravis and Literature Review. Oliveira F1, Schoeps V1, Sanvito W1, Valerio B2. 1Department of Neurology, Santa Casa at São Paulo-SP, Brasil. Ambulatory of Neurological manifestations of systemic diseases. 2Ambulatory of neuromuscular diseases. PMID: 30133608 DOI:10.1590/1806-9282.64.04.311 Free full text

Imagerie médicale – Medical imaging Neuromuscul Disord. 2018 Jun 6. pii: S0960-8966(17)31343-3. doi: 10.1016/j.nmd.2018.05.011. [Epub ahead of print] Imaging the heart to detect cardiomyopathy in Duchenne muscular dystrophy: A review. Power LC1, O'Grady GL2, Hornung TS3, Jefferies C4, Gusso S5, Hofman PL6. 1Paediatric Neurology Department, Starship Children's Hospital, Auckland, New Zealand; Paediatric Endocrinology Department, Starship Children's Hospital, Auckland, New Zealand; Liggins Institute, University of Auckland, Auckland, New Zealand. 2Paediatric Neurology Department, Starship Children's Hospital, Auckland, New Zealand. Electronic address: [email protected]. 3Paediatric Cardiology Department, Starship Children's Hospital, Auckland, New Zealand. 4Paediatric Endocrinology Department, Starship Children's Hospital, Auckland, New Zealand. 5Liggins Institute, University of Auckland, Auckland, New Zealand. 6Paediatric Endocrinology Department, Starship Children's Hospital, Auckland, New Zealand; Liggins Institute, University of Auckland, Auckland, New Zealand. KEYWORDS: Cardiac magnetic resonance imaging; Cardiomyopathy; Duchenne muscular dystrophy; Heart failure; Transthoracic echocardiography PMID: 30119965 DOI:10.1016/j.nmd.2018.05.011

J Neuromuscul Dis. 2018;5(3):315-319. doi: 10.3233/JND-180318. MRI-Guided Biopsy as a Tool for Diagnosis and Research of Muscle Disorders. Lassche S1, Janssen BH2, IJzermans T1, Fütterer JJ2, Voermans NC1, Heerschap A2, Küsters B3, Mann RM2, van Engelen BG1. 1Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, The Netherlands. 2Department of Radiology and Nuclear Medicine, Radboud University Medical Center, The Netherlands. 3Department of Pathology, Radboud University Medical Center, The Netherlands. KEYWORDS: Muscle MRI; facioscapulohumoral muscular dystrophy; inflammatory myopathy; muscle biopsy; myositis PMID: 30103349 PMCID:PMC6087442 DOI:10.3233/JND-180318 Free PMC Article

Open Access Maced J Med Sci. 2018 Jul 13;6(7):1278-1281. doi: 10.3889/oamjms.2018.192. eCollection 2018 Jul 20. A Case of Orbital Myositis Presenting With Dizziness. Aquilina N1, Bugeja V1, Zahra C1. 1St Vincent de Paul, Ingiered Road, Luqa, Malta.

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KEYWORDS: Complex ophthalmoplegia; Dizziness; Pain; Steroids; Unilateral PMID: 30087737 PMCID: PMC6062292 DOI: 10.3889/oamjms.2018.192 Free PMC Article

QJM. 2018 Aug 4. doi: 10.1093/qjmed/hcy173. [Epub ahead of print] Tensilon Test: Myasthenia Gravis. Matsuura H1,2, Sogabe Y3. 1Department of General Internal Medicine, Mitoyo General Hospital, Himehama, Toyohama-cho, Kanonji-city, Kagawa, Japan. 2Department of General Internal Medicine, Kurashiki Central Hospital, Himehama, Toyohama-cho, Kanonji-city, Kagawa, Japan. 3Department of Ophthalmology, Mitoyo General Hospital, Himehama, Toyohama-cho, Kanonji-city, Kagawa, Japan. PMID: 30085301 DOI:10.1093/qjmed/hcy173

Curr Opin Rheumatol. 2018 Aug 16. doi: 10.1097/BOR.0000000000000538. [Epub ahead of print] Juvenile dermatomyositis: novel treatment approaches and outcomes. Varnier GC1, Pilkington CA1, Wedderburn LR1,2,3. 1Paediatric Rheumatology Department, Great Ormond Street Hospital for Children NHS Foundation Trust. 2Infection, Immunity and Inflammation, UCL Great Ormond Street Institute of Child Health. 3NIHR GOSH Biomedical Research Centre (BRC), London, UK. PMID: 30124602 DOI:10.1097/BOR.0000000000000538

Mod Rheumatol. 2018 Aug 10:1-16. doi: 10.1080/14397595.2018.1511026. [Epub ahead of print] Clinical significance of subcutaneous fat and fascial involvement in juvenile dermatomyositis. Sakurai N1,2, Hino-Shishikura A3, Nozawa T1, Kamide H3, Ohara A1, Nishimura K1, Kikuchi M1, Hara R1, Mori M4, Ito S1. 1a Department of Pediatrics , Yokohama City University, Graduate School of Medicine , Yokohama , Japan. 2b Department of Pediatrics , Sapporo Medical University , Sapporo , Japan. 3c Department of Radiology , Yokohama City University, Graduate School of Medicine , Yokohama , Japan. 4d Department of Lifetime Clinical Immunology , Tokyo Medical and Dental University , Tokyo , Japan. KEYWORDS: MRI; aldolase; fascia; juvenile dermatomyositis; subcutaneous fat PMID: 30092673 DOI: 10.1080/14397595.2018.1511026

Pediatr Radiol. 2018 Aug;48(9):1348-1363. doi: 10.1007/s00247-018-4141-9. Epub 2018 Aug 4. Whole-body magnetic resonance imaging: techniques and non-oncologic indications. Greer MC1,2. 1Department of Diagnostic Imaging, The Hospital for Sick Children, 555 University Ave., Toronto, ON,, M5G 1X8, Canada. [email protected]. 2Department of Medical Imaging, University of Toronto, Toronto, ON, Canada. [email protected]. KEYWORDS: Children; Chronic recurrent multifocal osteomyelitis; Enthesitis-related arthritis; Myopathy; Osteomyelitis; Postmortem; Whole-body magnetic resonance imaging PMID:30078041 DOI:10.1007/s00247-018-4141-9

J Perinat Med. 2018 Aug 11. pii: /j/jpme.ahead-of-print/jpm-2018-0169/jpm-2018-0169.xml. doi: 10.1515/jpm-2018-0169. [Epub ahead of print] Prediction of postnatal developmental disabilities using the antenatal fetal neurodevelopmental test: KANET assessment. Hata T1, Kanenishi K1, Mori N1, AboEllail MAM1, Hanaoka U1, Koyano K2, Kato I2, Kusaka T2. 1Department of Perinatology and Gynecology, Kagawa University Graduate School of Medicine, Miki, Kagawa, Japan. 2Department of Pediatrics, Kagawa University Graduate School of Medicine, Miki, Kagawa, Japan. KEYWORDS: 4D Ultrasound; KANET; antenatal fetal neurodevelopmental test; autism spectrum disorder; cerebral palsy; developmental disability PMID:30098288 DOI:10.1515/jpm-2018-0169

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Médecine physique et de réadaptation – Physical and rehabilitation medicine BMC Musculoskelet Disord. 2018 Aug 16;19(1):287. doi: 10.1186/s12891-018-2212-6. Lower extremity joint contracture according to ambulatory status in children with Duchenne muscular dystrophy. Choi YA1, Chun SM2, Kim Y3, Shin HI4. 1Department of Rehabilitation Medicine, National Traffic Injury Rehabilitation Hospital, 260, Jungang-ro, Yangpyeong-eup, Yangpyeong-gun, Gyeonggi-do, 12564, Republic of Korea. 2Department of Rehabilitation Medicine, Purme Foundation NEXON Children's Rehabilitation Hospital, 494 World-Cup Buk-ro, Mapo-gu, Seoul, 03918, Republic of Korea. 3Department of Rehabilitation Medicine, Seoul National University Hospital, 101 Daehak-ro, Jongno-gu, Seoul, 03080, Republic of Korea. 4Department of Rehabilitation Medicine, Seoul National University Hospital, 101 Daehak-ro, Jongno-gu, Seoul, 03080, Republic of Korea. [email protected]. KEYWORDS: Contracture; Corticosteroid; Duchenne muscular dystrophy; Neuromuscular disease; Stretching PMID: 30111310 PMCID:PMC6094451 DOI:10.1186/s12891-018-2212-6 Free PMC Article

J Clin Densitom. 2018 Jul 20. pii: S1094-6950(18)30066-0. doi: 10.1016/j.jocd.2018.07.006. [Epub ahead of print] Effects of Traction on Interpretation of Lumbar Bone Mineral Density in Patients with Duchenne Muscular Dystrophy: A New Measurement Method and Diagnostic Criteria Based on Comparison of Dual-Energy X- Ray Absorptiometry and Quantitative Computed Tomography. Lee JS1, Kim K2, Jeon YK3, Kim J4, Jung DH1, Kim SH1, Shin MJ1, Shin YB5. 1Department of Rehabilitation Medicine, Pusan National University School of Medicine and Biomedical Research Institute, Pusan National University Hospital, South Korea. 2Department of Nuclear Medicine and Biomedical Research Institute, Pusan National University Hospital, South Korea. 3Division of Endocrinology, Department of Internal Medicine, Pusan National University Hospital, Pusan National University School of Medicine, Busan, South Korea; Medical Research Institute, Pusan National University, Busan, South Korea. 4Department of Biostatistics, Clinical Trial Center, Biomedical Research Institute, Pusan National University Hospital, South Korea. 5Department of Rehabilitation Medicine, Pusan National University School of Medicine and Biomedical Research Institute, Pusan National University Hospital, South Korea. Electronic address: [email protected]. KEYWORDS: Bone density; dual-energy X-ray absorptiometry; duchenne muscular dystrophy; quantitative computed tomography; scoliosis PMID: 30143440 DOI:10.1016/j.jocd.2018.07.006

Nephrologie – Nephrology Brain Dev. 2018 Aug 1. pii: S0387-7604(18)30343-7. doi: 10.1016/j.braindev.2018.07.012. [Epub ahead of print] Renal dysfunction is rare in Fukuyama congenital muscular dystrophy. Ishigaki K1, Kato I2, Murakami T2, Sato T2, Shichiji M2, Ishiguro K2, Ishizuka K3, Funatsuka M2, Saito K4, Osawa M2, Nagata S2. 1Department of Pediatrics, Tokyo Women's Medical University, School of Medicine, Tokyo, Japan. Electronic address: [email protected]. 2Department of Pediatrics, Tokyo Women's Medical University, School of Medicine, Tokyo, Japan. 3Department of Pediatric Nephrology, Tokyo Women's Medical University, School of Medicine, Tokyo, Japan. 4Institute of Medical Genetics, Tokyo Women's Medical University, School of Medicine, Tokyo, Japan. KEYWORDS: ACE inhibitor; Creatinine; Cystatin C; Fanconi syndrome; Fukuyama congenital muscular dystrophy; Renal dysfunction PMID: 30077507 DOI: 10.1016/j.braindev.2018.07.012

Ophtalmologie – Ophthalmology Muscle Nerve. 2018 Aug 14. doi: 10.1002/mus.26317. [Epub ahead of print] On the double: Early immunotherapy speeds recovery of ocular myasthenic weakness.

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Guidon AC1, Hobson-Webb LD2. 1Division of Neuromuscular Medicine, Department of Neurology, Massachusetts General Hospital, Boston, MA. 2Division of Neuromuscular Medicine, Department of Neurology, Duke University Medical Center, Durham, NC. No abstract is available for this article. KEYWORDS: Corticosteroids; Disease-Specific Outcome Measures; Immunotherapy; Myasthenia Gravis; Ocular Myasthenia Gravis; Ophthalmoparesis PMID: 30106478 DOI: 10.1002/mus.26317

1. Open Access Maced J Med Sci. 2018 Jul 13;6(7):1278-1281. doi: 10.3889/oamjms.2018.192. eCollection 2018 Jul 20. A Case of Orbital Myositis Presenting With Dizziness. Aquilina N1, Bugeja V1, Zahra C1. 1St Vincent de Paul, Ingiered Road, Luqa, Malta. KEYWORDS: Complex ophthalmoplegia; Dizziness; Pain; Steroids; Unilateral PMID: 30087737 PMCID: PMC6062292 DOI: 10.3889/oamjms.2018.192 Free PMC Article

QJM. 2018 Aug 4. doi: 10.1093/qjmed/hcy173. [Epub ahead of print] Tensilon Test: Myasthenia Gravis. Matsuura H1,2, Sogabe Y3. 1Department of General Internal Medicine, Mitoyo General Hospital, Himehama, Toyohama-cho, Kanonji-city, Kagawa, Japan. 2Department of General Internal Medicine, Kurashiki Central Hospital, Himehama, Toyohama-cho, Kanonji-city, Kagawa, Japan. 3Department of Ophthalmology, Mitoyo General Hospital, Himehama, Toyohama-cho, Kanonji-city, Kagawa, Japan. PMID: 30085301 DOI:10.1093/qjmed/hcy173

Pneumologie – Pneumology Am J Phys Med Rehabil. 2018 Aug 23. doi: 10.1097/PHM.0000000000001022. [Epub ahead of print] Benefits of maxillary expansion for a patient with spinal muscular atrophy type 2. Abeleira MT1, Limeres J1, Outumuro M1, Vidal PS1, Diniz-Freitas M1, Ruíz-Piñón M2, Diz P1. 1Medical-Surgical Dentistry Research Group (OMEQUI), Health Research Institute of Santiago de Compostela (IDIS), University of Santiago de Compostela (USC), Santiago de Compostela, Spain. 2Operative Dentistry and Endodontics Unit, University of Santiago de Compostela, Santiago de Compostela, Spain. PMID: 30138129 DOI: 10.1097/PHM.0000000000001022

J Stroke Cerebrovasc Dis. 2018 Aug 6. pii: S1052-3057(18)30372-0. doi: 10.1016/j.jstrokecerebrovasdis.2018.06.043. [Epub ahead of print] A Case of Adult-onset Pompe Disease with Cerebral Stroke and Left Ventricular Hypertrophy. Hossain MA1, Miyajima T2, Akiyama K2, Eto Y3. 1Advanced Clinical Research Center, Institute of Neurological Disorders, Kawasaki, Kanagawa, Japan; Department of Gene Therapy, Institute for deoxyribonucleic acid (DNA) Medicine, The Jikei University School of Medicine, Tokyo, Japan. Electronic address: [email protected]. 2Advanced Clinical Research Center, Institute of Neurological Disorders, Kawasaki, Kanagawa, Japan. 3Advanced Clinical Research Center, Institute of Neurological Disorders, Kawasaki, Kanagawa, Japan; Department of Gene Therapy, Institute for deoxyribonucleic acid (DNA) Medicine, The Jikei University School of Medicine, Tokyo, Japan. Electronic address: [email protected]. KEYWORDS: Late-onset Pompe disease; acid α-glucosidase; cerebral stroke; enzyme replacement therapy PMID: 30093193 DOI:10.1016/j.jstrokecerebrovasdis.2018.06.043

Breathe (Sheff). 2018 Jun;14(2):e34-e39. doi: 10.1183/20734735.000118. New respiratory symptoms and lung imaging findings in a woman with polymyositis. Bolaki M1, Karagiannis K1, Bertsias G2, Mitrouska I1, Tzanakis N1, Antoniou KM1.

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1Dept of Thoracic Medicine, Heraklion University Hospital, Medical School, University of Crete, Heraklion, Greece. 2Dept of Rheumatology, Heraklion University Hospital, Medical School, University of Crete, Heraklion, Greece. PMID: 30131832 PMCID: PMC6095235 DOI:10.1183/20734735.000118 Free PMC Article

Eur Respir J. 2018 Aug 23. pii: 1800754. doi: 10.1183/13993003.00754-2018. [Epub ahead of print] Patterns of healthcare utilisation for respiratory complications of adults with neuromuscular disease: a population study. Rose L1,2,3,4, McKim D5,6,7, Leasa D8,9, Nonoyama M10,11,12, Tandon A13,14, Bai YQ14,15, Amin R14,16,17, Katz S18,19,20, Goldstein R21,22, Gershon A13,23,24. 1Critical Care Research, Sunnybrook Health Sciences Centre and Sunnybrook Research Institute. 2Florence Nightingale Faculty of Nursing, Midwifery, and Palliative Care, Kings College London. 3Lawrence S. Bloomberg Faculty of Nursing and Faculty of Medicine, University of Toronto. 4Institute of Clinical Evaluative Sciences. 5The Ottawa Hospital Respiratory Rehabilitation and The Ottawa Hospital Sleep Centre. 6Ottawa Hospital Research Institute. 7Medicine, University of Ottawa. 8Department of Medicine, Divisions of Critical Care and Respirology London Health Sciences Centre. 9Medicine, Western University. 10University of Ontario Institute of Technology. 11Child Health Evaluative Sciences & Respiratory Therapy, SickKids. 12Rehabilitation Sciences & Physical Therapy, University of Toronto. 13Sunnybrook Health Sciences Centre. 14University of Toronto. 15Institute of Health Policy, Management and Evaluation. 16Division of Respiratory Medicine, SickKids. 17SickKids Research Institute. 18Division of Respirology, Children's Hospital of Eastern Ontario. 19Children's Hospital of Eastern Ontario Research Institute. 20University of Ottawa. 21West Park Healthcare Centre. 22Medicine and Physical Therapy, University of Toronto. 23Sunnybrook Research Institute and the Institute of Clinical Evaluative Sciences. 24Department of Medicine, University of Toronto. PMID:30139772 DOI:10.1183/13993003.00754-2018

Pediatr Pulmonol. 2018 Aug 21. doi: 10.1002/ppul.24145. [Epub ahead of print] Respiratory health service utilization of children with neuromuscular disease. Rose L1, McKim D2, Leasa D3, Nonoyama M4, Tandon A5, Bai YQ6, Goldstein R7, Amin R8, Katz S9, Gershon A10. 1Sunnybrook Health Sciences Centre and Sunnybrook Research Institute, Florence Nightingale Faculty of Nursing, Midwifery, and Palliative Care, Kings College London, Lawrence S. Bloomberg Faculty of Nursing and Faculty of Medicine, University of Toronto, Institute of Clinical Evaluative Sciences, Toronto, Ontario, Canada. 2The Ottawa Hospital Respiratory Rehabilitation and The Ottawa Hospital Sleep Centre, Ottawa Hospital Research Institute, University of Ottawa, Ottawa, Ontario, Canada. 3Department of Medicine, Divisions of Critical Care and Respirology London Health Sciences Centre, Western University, London, Ontario, Canada. 4University of Ontario Institute of Technology, Child Health Evaluative Sciences & Respiratory Therapy, SickKids, Rehabilitation Sciences & Physical Therapy, University of Toronto, Oshawa, Ontario, Canada. 5Sunnybrook Health Sciences Centre, University of Toronto, Toronto, Ontario, Canada. 6Institute of Health Policy, Management and Evaluation, University of Toronto, Toronto, Ontario, Canada. 7West Park Healthcare Centre, Faculty of Medicine, University of Toronto, Toronto, Ontario, Canada. 8Division of Respiratory Medicine, SickKids, SickKids Research Institute, University of Toronto, Toronto, Ontario, Canada. 9Division of Respirology, Children's Hospital of Eastern Ontario, Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada. 10Sunnybrook Health Sciences Centre, Sunnybrook Research Institute and the Institute of Clinical Evaluative Sciences, Department of Medicine, University of Toronto, Toronto, Ontario, Canada. KEYWORDS: chronic respiratory failure; epidemiology; health care utilization; neuromuscular disease PMID:30129703 DOI:10.1002/ppul.24145

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Neuromuscul Disord. 2018 Jul 1. pii: S0960-8966(18)30128-7. doi: 10.1016/j.nmd.2018.06.013. [Epub ahead of print] Respiratory insight to congenital muscular dystrophies and congenital myopathies and its relation to clinical trial. Fauroux B1, Amaddeo A2, Quijano-Roy S3, Barnerias C4, Desguerre I5, Khirani S6. 1Pediatric noninvasive ventilation and sleep unit, Necker university hospital, AP-HP, 149 rue de Sèvres, 75015 Paris, France; Paris Descartes University, Paris, France; Research unit Inserm U955, Equipe 13, Créteil, France. Electronic address: [email protected]. 2Pediatric noninvasive ventilation and sleep unit, Necker university hospital, AP-HP, 149 rue de Sèvres, 75015 Paris, France; Paris Descartes University, Paris, France; Research unit Inserm U955, Equipe 13, Créteil, France. 3Pediatric Department, Centre de Référence Maladies Neuromusculaires (GNMH), Raymond Poincaré Hôpital, AP-HP, Garches, Université Versailles UVSQ Inserm, UMRS_974, Paris, France. 4Pediatric neurology department, Centre de Référence Maladies Neuromusculaires (GNMH), Necker university hospital, AP-HP, Paris, France. 5Paris Descartes University, Paris, France; Pediatric neurology department, Centre de Référence Maladies Neuromusculaires (GNMH), Necker university hospital, AP-HP, Paris, France. 6Pediatric noninvasive ventilation and sleep unit, Necker university hospital, AP-HP, 149 rue de Sèvres, 75015 Paris, France; ASV Santé, Gennevilliers, France. KEYWORDS: Child; Congenital muscular dystrophies; Congenital myopathies; Lung function; Respiratory muscles; Sniff nasal inspiratory pressure PMID:30097248 DOI:10.1016/j.nmd.2018.06.013

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