dc.contributor | Vall d'Hebron Barcelona Hospital Campus |
dc.contributor.author | Yaou, Rabah Ben |
dc.contributor.author | Yun, Pomi |
dc.contributor.author | Dabaj, Ivana |
dc.contributor.author | Norato, Gina |
dc.contributor.author | Donkervoort, Sandra |
dc.contributor.author | Xiong, Hui |
dc.contributor.author | Gómez Andrés, David |
dc.date.accessioned | 2022-02-24T16:06:49Z |
dc.date.available | 2022-02-24T16:06:49Z |
dc.date.issued | 2021-11 |
dc.identifier.citation | Ben Yaou R, Yun P, Dabaj I, Norato G, Donkervoort S, Xiong H, et al. International retrospective natural history study of LMNA-related congenital muscular dystrophy. Brain Commun. 2021 Jul;3(3):fcab075. |
dc.identifier.issn | 2632-1297 |
dc.identifier.uri | https://hdl.handle.net/11351/7075 |
dc.description | Laminopatías; Distrofia muscular; Músculo estriado |
dc.language.iso | eng |
dc.publisher | Oxford University Press |
dc.relation.ispartofseries | Brain Communications;3(3) |
dc.rights | Attribution 4.0 International |
dc.rights.uri | http://creativecommons.org/licenses/by/4.0/ |
dc.source | Scientia |
dc.subject | Distròfia muscular - Fisiologia patològica |
dc.subject | Distròfia muscular - Aspectes genètics |
dc.subject.mesh | Muscular Dystrophies |
dc.subject.mesh | /pathology |
dc.subject.mesh | Lamin Type A |
dc.subject.mesh | /genetics |
dc.title | International retrospective natural history study of LMNA-related congenital muscular dystrophy |
dc.type | info:eu-repo/semantics/article |
dc.identifier.doi | 10.1093/braincomms/fcab075 |
dc.subject.decs | distrofias musculares |
dc.subject.decs | /patología |
dc.subject.decs | lamina de tipo A |
dc.subject.decs | /genética |
dc.relation.publishversion | https://doi.org/10.1093/braincomms/fcab075 |
dc.type.version | info:eu-repo/semantics/publishedVersion |
dc.audience | Professionals |
dc.contributor.organismes | Institut Català de la Salut |
dc.contributor.authoraffiliation | [Ben Yaou R] Sorbonne Université, Inserm, Institut de Myologie, Centre de Recherche en Myologie, F-75013 Paris, France. APHP-Sorbonne Université, Neuromuscular Disorders Reference Center of Nord-Est-Île de France, FILNEMUS, ERN-Euro-NMD, Service de Neuromyologie, Institute de Myologie, G.H. Pitié-Salpêtrière Paris F-75013, France. [Yun P, Norato G, Donkervoort S] Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA. [Dabaj I] APHP-Université Paris-Saclay, Neuromuscular Disorders Reference Center of Nord-Est-Île de France, FILNEMUS, ERN-Euro-NMD, Pediatric Neurology and ICU Department, DMU Santé Enfant Adolescent (SEA), Raymond Poincaré University Hospital, Garches France. INSERM U 1245, ED497, School of Medicine, Rouen University, Rouen, France. [Xiong H] INSERM U 1245, ED497, School of Medicine, Rouen University, Rouen, France. [Gómez-Andrés D] Servei de Neurologia Pediàtrica (ERN-RND - EURO-NMD), Vall d'Hebron Hospital Universitari, Barcelona, Spain. Vall d'Hebron Institut de Recerca (VHIR), Barcelona, Spain |
dc.identifier.pmid | 34240052 |
dc.identifier.wos | 000674976500008 |
dc.rights.accessrights | info:eu-repo/semantics/openAccess |