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Autosomal dominant ADAR c.3019G>A (p.(G1007R)) variant is an important mimic of hereditary spastic paraplegia and cerebral palsy.
Jones, Hannah F; Stoll, Marion; Ho, Gladys; O'Neill, Dugald; Han, Velda X; Paget, Simon; Stewart, Kirsty; Lewis, Jennifer; Kothur, Kavitha; Troedson, Christopher; Crow, Yanick J; Dale, Russell C; Mohammad, Shekeeb S.
Afiliação
  • Jones HF; Neurology Department, The Children's Hospital at Westmead Clinical School, Faculty of Medicine and Health, University of Sydney, New South Wales, Australia; Starship Hospital, Centre for Brain Research, Faculty of Medical and Health Sciences, University of Auckland, New Zealand.
  • Stoll M; Molecular Medicine Laboratory, Concord Repatriation General Hospital, NSW Health Pathology, Australia.
  • Ho G; Molecular Genetics Department, The Children's Hospital at Westmead, Australia; Discipline of Child & Adolescent Health, University of Sydney, Sydney, New South Wales 2006, Australia; Discipline of Genetic Medicine, University of Sydney, Sydney, New South Wales 2006, Australia.
  • O'Neill D; Neurology Department, The Children's Hospital at Westmead Clinical School, Faculty of Medicine and Health, University of Sydney, New South Wales, Australia.
  • Han VX; Khoo-Teck Puat-National University Children's Medical Institute, National University Health System, Singapore.
  • Paget S; Kids Rehab, The Children's Hospital at Westmead, New South Wales, Australia.
  • Stewart K; Kids Rehab, The Children's Hospital at Westmead, New South Wales, Australia.
  • Lewis J; Kids Rehab, The Children's Hospital at Westmead, New South Wales, Australia.
  • Kothur K; Neurology Department, The Children's Hospital at Westmead Clinical School, Faculty of Medicine and Health, University of Sydney, New South Wales, Australia.
  • Troedson C; Neurology Department, The Children's Hospital at Westmead Clinical School, Faculty of Medicine and Health, University of Sydney, New South Wales, Australia.
  • Crow YJ; MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, United Kingdom; Laboratory of Neurogenetics and Neuroinflammation, Institute Imagine, Université de Paris, Paris, France.
  • Dale RC; Neurology Department, The Children's Hospital at Westmead Clinical School, Faculty of Medicine and Health, University of Sydney, New South Wales, Australia; Discipline of Child & Adolescent Health, University of Sydney, Sydney, New South Wales 2006, Australia.
  • Mohammad SS; Neurology Department, The Children's Hospital at Westmead Clinical School, Faculty of Medicine and Health, University of Sydney, New South Wales, Australia; Discipline of Child & Adolescent Health, University of Sydney, Sydney, New South Wales 2006, Australia. Electronic address: shekeeb.mohamma
Brain Dev ; 44(2): 153-160, 2022 Feb.
Article em En | MEDLINE | ID: mdl-34702576
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Adenosina Desaminase / Proteínas de Ligação a RNA / Doenças Autoimunes do Sistema Nervoso / Malformações do Sistema Nervoso Idioma: En Ano de publicação: 2022 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Adenosina Desaminase / Proteínas de Ligação a RNA / Doenças Autoimunes do Sistema Nervoso / Malformações do Sistema Nervoso Idioma: En Ano de publicação: 2022 Tipo de documento: Article