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Veille Neuromusculaire / Neuromuscular Alert Sommaire Par 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 channelopathies........................................................................... 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 muscular dystrophy (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 – Myasthenia gravis ........................................................................................... 22 Myopathies 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 AFM-Téléthon (Service Documentation) – 10/09/2018 1/54 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 AFM-Téléthon (Service Documentation) – 10/09/2018 2/54 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,
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