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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:J Neurol
Prif Awduron: 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
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Springer Berlin Heidelberg 2016
Pynciau:
Original Communication
Mynediad Ar-lein: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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