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Mutational spectrum and phenotypic variability of VCP-related neurological disease in the UK.
Figueroa-Bonaparte, S; Hudson, J; Barresi, R; Polvikoski, T; Williams, T; Töpf, A; Harris, E; Hilton-Jones, D; Petty, R; Willis, T A; Longman, C; Dougan, C F; Parton, M J; Hanna, M G; Quinlivan, R; Farrugia, M E; Guglieri, M; Bushby, K; Straub, V; Lochmüller, H; Evangelista, T.
Afiliação
  • Figueroa-Bonaparte S; Department of Neurology, Hospital de la Santa Creu i Sant Pau, and Universitat Autónoma de Barcelona, Barcelona, Spain.
  • Hudson J; The John Walton Muscular Dystrophy Research Centre and MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK.
  • Barresi R; The John Walton Muscular Dystrophy Research Centre and MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK Rare Diseases Advisory Group Service for Neuromuscular Diseases, Muscle Immunoanalysis Unit, Dental Hospital, Newcastle upon Tyne
  • Polvikoski T; Institute of Neuroscience, Newcastle University, Newcastle upon Tyne, UK.
  • Williams T; Department of Neurology, Royal Victoria Infirmary, Newcastle upon Tyne, UK.
  • Töpf A; The John Walton Muscular Dystrophy Research Centre and MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK.
  • Harris E; The John Walton Research Centre and MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK.
  • Hilton-Jones D; Department of Neurology, John Radcliffe Hospital, Oxford, UK.
  • Petty R; Department of Neurology, Southern General Hospital, Glasgow, UK.
  • Willis TA; The Robert Jones and Agnes Hunt Orthopaedic Hospital, Oswestry, UK.
  • Longman C; West of Scotland Regional Genetics Service, Southern General Hospital, Glasgow, UK.
  • Dougan CF; The Walton Centre for Neurology and Neurosurgery, Liverpool, UK.
  • Parton MJ; UCL MRC Centre for Neuromuscular Disease, Institute of Neurology and National Hospital for Neurology and Neurosurgery, Queen- Square, London, UK.
  • Hanna MG; MRC Centre for Neuromuscular Disease and National Hospital for Neurology and Neurosurgery, London, UK.
  • Quinlivan R; UCL MRC Centre for Neuromuscular Disease, Institute of Neurology and National Hospital for Neurology and Neurosurgery, Queen- Square, London, UK.
  • Farrugia ME; Department of Neurology, Southern General Hospital, Glasgow, UK.
  • Guglieri M; The John Walton Muscular Dystrophy Research Centre and MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK.
  • Bushby K; The John Walton Muscular Dystrophy Research Centre and MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK.
  • Straub V; The John Walton Muscular Dystrophy Research Centre and MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK.
  • Lochmüller H; The John Walton Muscular Dystrophy Research Centre and MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK.
  • Evangelista T; The John Walton Muscular Dystrophy Research Centre and MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK.
J Neurol Neurosurg Psychiatry ; 87(6): 680-1, 2016 06.
Article em En | MEDLINE | ID: mdl-26105173
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fenótipo / Adenosina Trifosfatases / Proteínas de Ciclo Celular / Miopatias Distais / Demência Frontotemporal / Variação Biológica da População Limite: Adult / Female / Humans / Male País/Região como assunto: Europa Idioma: En Revista: J Neurol Neurosurg Psychiatry Ano de publicação: 2016 Tipo de documento: Article País de afiliação: Espanha
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fenótipo / Adenosina Trifosfatases / Proteínas de Ciclo Celular / Miopatias Distais / Demência Frontotemporal / Variação Biológica da População Limite: Adult / Female / Humans / Male País/Região como assunto: Europa Idioma: En Revista: J Neurol Neurosurg Psychiatry Ano de publicação: 2016 Tipo de documento: Article País de afiliação: Espanha