Design, set-up and utility of the UK facioscapulohumeral muscular dystrophy patient registry

Facioscapulohumeral dystrophy (FSHD) is a rare inherited neuromuscular disease estimated to affect 1/15,000 people. Through basic research, remarkable progress has been made towards the development of targeted therapies. Patient identification, through registries or other means is essential for tria...

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Dades bibliogràfiques
Publicat a:J Neurol
Autors principals: Evangelista, Teresinha, Wood, Libby, Fernandez-Torron, Roberto, Williams, Maggie, Smith, Debbie, Lunt, Peter, Hudson, Judith, Norwood, Fiona, Orrell, Richard, Willis, Tracey, Hilton-Jones, David, Rafferty, Karen, Guglieri, Michela, Lochmüller, Hanns
Format: Artigo
Idioma:Inglês
Publicat: Springer Berlin Heidelberg 2016
Matèries:
Original Communication
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4929161/
https://ncbi.nlm.nih.gov/pubmed/27159994
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00415-016-8132-1
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