Your browser doesn't support javascript.
loading
Translating genetic and functional data into clinical practice: a series of 223 families with myotonia.
Suetterlin, Karen; Matthews, Emma; Sud, Richa; McCall, Samuel; Fialho, Doreen; Burge, James; Jayaseelan, Dipa; Haworth, Andrea; Sweeney, Mary G; Kullmann, Dimitri M; Schorge, Stephanie; Hanna, Michael G; Männikkö, Roope.
Afiliação
  • Suetterlin K; MRC International Centre for Genomic Medicine in Neuromuscular Diseases, Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, UK.
  • Matthews E; AGE Research Group, NIHR Newcastle Biomedical Research Centre, Newcastle-upon-Tyne Hospitals NHS Foundation Trust and Newcastle University, Newcastle-upon-Tyne, UK.
  • Sud R; MRC International Centre for Genomic Medicine in Neuromuscular Diseases, Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, UK.
  • McCall S; Atkinson Morley Neuromuscular Centre, Department of Neurology, St Georges University Hospitals NHS Foundation Trust, London, UK.
  • Fialho D; Neurogenetics Unit, UCL Queen Square Institute of Neurology, London, UK.
  • Burge J; Neurogenetics Unit, UCL Queen Square Institute of Neurology, London, UK.
  • Jayaseelan D; MRC International Centre for Genomic Medicine in Neuromuscular Diseases, Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, UK.
  • Haworth A; Department of Clinical Neurophysiology, King's College Hospital, London, UK.
  • Sweeney MG; MRC International Centre for Genomic Medicine in Neuromuscular Diseases, Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, UK.
  • Kullmann DM; Department of Clinical Neurophysiology, King's College Hospital, London, UK.
  • Schorge S; MRC International Centre for Genomic Medicine in Neuromuscular Diseases, Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, UK.
  • Hanna MG; Neurogenetics Unit, UCL Queen Square Institute of Neurology, London, UK.
  • Männikkö R; Neurogenetics Unit, UCL Queen Square Institute of Neurology, London, UK.
Brain ; 145(2): 607-620, 2022 04 18.
Article em En | MEDLINE | ID: mdl-34529042
Assuntos
Palavras-chave
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Miotonia / Miotonia Congênita Limite: Humans Idioma: En Revista: Brain Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Reino Unido
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Miotonia / Miotonia Congênita Limite: Humans Idioma: En Revista: Brain Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Reino Unido