Your browser doesn't support javascript.
loading
Congenital muscular dystrophies in the UK population: Clinical and molecular spectrum of a large cohort diagnosed over a 12-year period.
Sframeli, Maria; Sarkozy, Anna; Bertoli, Marta; Astrea, Guja; Hudson, Judith; Scoto, Mariacristina; Mein, Rachael; Yau, Michael; Phadke, Rahul; Feng, Lucy; Sewry, Caroline; Fen, Adeline Ngoh Seow; Longman, Cheryl; McCullagh, Gary; Straub, Volker; Robb, Stephanie; Manzur, Adnan; Bushby, Kate; Muntoni, Francesco.
Afiliación
  • Sframeli M; Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health & Great Ormond Street Hospital, London, UK; Department of Clinical and Experimental Medicine and Nemo Sud Clinical Centre, University of Messina, Messina, Italy.
  • Sarkozy A; Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health & Great Ormond Street Hospital, London, UK.
  • Bertoli M; The John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, University of Newcastle, Central Parkway, Newcastle upon Tyne, UK.
  • Astrea G; Department of Developmental Neuroscience, IRCCS Fondazione Stella Maris, Pisa, Italy.
  • Hudson J; The John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, University of Newcastle, Central Parkway, Newcastle upon Tyne, UK.
  • Scoto M; Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health & Great Ormond Street Hospital, London, UK.
  • Mein R; DNA Laboratory, Guy's Hospital, London, UK.
  • Yau M; DNA Laboratory, Guy's Hospital, London, UK.
  • Phadke R; Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health & Great Ormond Street Hospital, London, UK.
  • Feng L; Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health & Great Ormond Street Hospital, London, UK.
  • Sewry C; Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health & Great Ormond Street Hospital, London, UK.
  • Fen ANS; Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health & Great Ormond Street Hospital, London, UK.
  • Longman C; West of Scotland Regional Genetics Service, Southern General Hospital, Glasgow, UK.
  • McCullagh G; Royal Manchester Children's Hospital, Manchester, UK.
  • Straub V; The John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, University of Newcastle, Central Parkway, Newcastle upon Tyne, UK.
  • Robb S; Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health & Great Ormond Street Hospital, London, UK.
  • Manzur A; Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health & Great Ormond Street Hospital, London, UK.
  • Bushby K; The John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, University of Newcastle, Central Parkway, Newcastle upon Tyne, UK.
  • Muntoni F; Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health & Great Ormond Street Hospital, London, UK. Electronic address: f.muntoni@ucl.ac.uk.
Neuromuscul Disord ; 27(9): 793-803, 2017 Sep.
Article en En | MEDLINE | ID: mdl-28688748
Asunto(s)
Palabras clave
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Proteínas Nucleares / Transactivadores / Laminina / Distrofias Musculares / Mutación Tipo de estudio: Diagnostic_studies / Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Female / Humans / Male País/Región como asunto: Europa Idioma: En Revista: Neuromuscul Disord Asunto de la revista: NEUROLOGIA Año: 2017 Tipo del documento: Article País de afiliación: Italia
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Proteínas Nucleares / Transactivadores / Laminina / Distrofias Musculares / Mutación Tipo de estudio: Diagnostic_studies / Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Female / Humans / Male País/Región como asunto: Europa Idioma: En Revista: Neuromuscul Disord Asunto de la revista: NEUROLOGIA Año: 2017 Tipo del documento: Article País de afiliación: Italia