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A recurrent de novo mutation in TMEM106B causes hypomyelinating leukodystrophy.
Simons, Cas; Dyment, David; Bent, Stephen J; Crawford, Joanna; D'Hooghe, Marc; Kohlschütter, Alfried; Venkateswaran, Sunita; Helman, Guy; Poll-The, Bwee-Tien; Makowski, Christine C; Ito, Yoko; Kernohan, Kristin; Hartley, Taila; Waisfisz, Quinten; Taft, Ryan J; van der Knaap, Marjo S; Wolf, Nicole I.
Afiliação
  • Simons C; Institute for Molecular Bioscience, University of Queensland, St. Lucia, Queensland, Australia.
  • Dyment D; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Ontario, Canada.
  • Bent SJ; Institute for Molecular Bioscience, University of Queensland, St. Lucia, Queensland, Australia.
  • Crawford J; Institute for Molecular Bioscience, University of Queensland, St. Lucia, Queensland, Australia.
  • D'Hooghe M; Department of Neurology, General Hospital Sint-Jan, Brugge, Belgium.
  • Kohlschütter A; Department of Paediatrics, University Medical Centre Hamburg-Eppendorf, Hamburg, Germany.
  • Venkateswaran S; Division of Neurology, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.
  • Helman G; Institute for Molecular Bioscience, University of Queensland, St. Lucia, Queensland, Australia.
  • Poll-The BT; Department of Child Neurology, Academic Medical Center, Amsterdam, The Netherlands.
  • Makowski CC; Children's Hospital München-Schwabing, TUM München, Germany.
  • Ito Y; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Ontario, Canada.
  • Kernohan K; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Ontario, Canada.
  • Hartley T; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Ontario, Canada.
  • Waisfisz Q; Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands.
  • Taft RJ; Institute for Molecular Bioscience, University of Queensland, St. Lucia, Queensland, Australia.
  • Wolf NI; Department of Child Neurology, VU University Medical Center, and Amsterdam Neuroscience, Amsterdam, The Netherlands.
Brain ; 140(12): 3105-3111, 2017 12 01.
Article em En | MEDLINE | ID: mdl-29186371
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doenças Desmielinizantes Hereditárias do Sistema Nervoso Central / Proteínas de Membrana / Mutação / Proteínas do Tecido Nervoso Tipo de estudo: Etiology_studies / Prognostic_studies Limite: Adult / Child, preschool / Humans / Male Idioma: En Ano de publicação: 2017 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doenças Desmielinizantes Hereditárias do Sistema Nervoso Central / Proteínas de Membrana / Mutação / Proteínas do Tecido Nervoso Tipo de estudo: Etiology_studies / Prognostic_studies Limite: Adult / Child, preschool / Humans / Male Idioma: En Ano de publicação: 2017 Tipo de documento: Article