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Both Heterozygous and Homozygous Loss-of-Function JPH3 Variants Are Associated with a Paroxysmal Movement Disorder.
Steel, Dora; Vezyroglou, Aikaterini; Barwick, Katy; Smith, Martin; Vogt, Julie; Gibbon, Frances M; Cross, J Helen; Kurian, Manju A.
Afiliação
  • Steel D; Developmental Neurosciences, Zayed Centre for Research into Rare Disease in Children, UCL Great Ormond Street Institute of Child Health, London, United Kingdom.
  • Vezyroglou A; Department of Neurology, Great Ormond Street Hospital, London, United Kingdom.
  • Barwick K; Developmental Neurosciences, Zayed Centre for Research into Rare Disease in Children, UCL Great Ormond Street Institute of Child Health, London, United Kingdom.
  • Smith M; Department of Neurology, Great Ormond Street Hospital, London, United Kingdom.
  • Vogt J; Developmental Neurosciences, Zayed Centre for Research into Rare Disease in Children, UCL Great Ormond Street Institute of Child Health, London, United Kingdom.
  • Gibbon FM; Department of Paediatric Neurology, Oxford University Hospitals NHS Foundation Trust, London, United Kingdom.
  • Cross JH; West Midlands Regional Genetics Service, Birmingham Women and Children's Hospital NHS Foundation Trust, Birmingham, United Kingdom.
  • Kurian MA; Noah's Ark Children's Hospital for Wales, Cardiff and Vale University Health Board, Cardiff, Wales, United Kingdom.
Mov Disord ; 38(1): 155-157, 2023 01.
Article em En | MEDLINE | ID: mdl-36273396
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Transtornos dos Movimentos Tipo de estudo: Risk_factors_studies Limite: Humans Idioma: En Revista: Mov Disord Assunto da revista: NEUROLOGIA Ano de publicação: 2023 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: Transtornos dos Movimentos Tipo de estudo: Risk_factors_studies Limite: Humans Idioma: En Revista: Mov Disord Assunto da revista: NEUROLOGIA Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Reino Unido