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Megalencephalic leukoencephalopathy with subcortical cysts: Characterization of disease variants.
Hamilton, Eline M C; Tekturk, Pinar; Cialdella, Fia; van Rappard, Diane F; Wolf, Nicole I; Yalcinkaya, Cengiz; Çetinçelik, Ümran; Rajaee, Ahmad; Kariminejad, Ariana; Paprocka, Justyna; Yapici, Zuhal; Bosnjak, Vlatka Mejaski; van der Knaap, Marjo S.
Afiliação
  • Hamilton EMC; From the Department of Child Neurology and Amsterdam Neuroscience (E.M.C.H., F.C., D.F.v.R., N.I.W., M.S.v.d.K.), VU University Medical Center, Amsterdam, the Netherlands; Division of Child Neurology, Department of Neurology, Istanbul Faculty of Medicine (P.T., Z.Y.), and Division of Child Neurology
  • Tekturk P; From the Department of Child Neurology and Amsterdam Neuroscience (E.M.C.H., F.C., D.F.v.R., N.I.W., M.S.v.d.K.), VU University Medical Center, Amsterdam, the Netherlands; Division of Child Neurology, Department of Neurology, Istanbul Faculty of Medicine (P.T., Z.Y.), and Division of Child Neurology
  • Cialdella F; From the Department of Child Neurology and Amsterdam Neuroscience (E.M.C.H., F.C., D.F.v.R., N.I.W., M.S.v.d.K.), VU University Medical Center, Amsterdam, the Netherlands; Division of Child Neurology, Department of Neurology, Istanbul Faculty of Medicine (P.T., Z.Y.), and Division of Child Neurology
  • van Rappard DF; From the Department of Child Neurology and Amsterdam Neuroscience (E.M.C.H., F.C., D.F.v.R., N.I.W., M.S.v.d.K.), VU University Medical Center, Amsterdam, the Netherlands; Division of Child Neurology, Department of Neurology, Istanbul Faculty of Medicine (P.T., Z.Y.), and Division of Child Neurology
  • Wolf NI; From the Department of Child Neurology and Amsterdam Neuroscience (E.M.C.H., F.C., D.F.v.R., N.I.W., M.S.v.d.K.), VU University Medical Center, Amsterdam, the Netherlands; Division of Child Neurology, Department of Neurology, Istanbul Faculty of Medicine (P.T., Z.Y.), and Division of Child Neurology
  • Yalcinkaya C; From the Department of Child Neurology and Amsterdam Neuroscience (E.M.C.H., F.C., D.F.v.R., N.I.W., M.S.v.d.K.), VU University Medical Center, Amsterdam, the Netherlands; Division of Child Neurology, Department of Neurology, Istanbul Faculty of Medicine (P.T., Z.Y.), and Division of Child Neurology
  • Çetinçelik Ü; From the Department of Child Neurology and Amsterdam Neuroscience (E.M.C.H., F.C., D.F.v.R., N.I.W., M.S.v.d.K.), VU University Medical Center, Amsterdam, the Netherlands; Division of Child Neurology, Department of Neurology, Istanbul Faculty of Medicine (P.T., Z.Y.), and Division of Child Neurology
  • Rajaee A; From the Department of Child Neurology and Amsterdam Neuroscience (E.M.C.H., F.C., D.F.v.R., N.I.W., M.S.v.d.K.), VU University Medical Center, Amsterdam, the Netherlands; Division of Child Neurology, Department of Neurology, Istanbul Faculty of Medicine (P.T., Z.Y.), and Division of Child Neurology
  • Kariminejad A; From the Department of Child Neurology and Amsterdam Neuroscience (E.M.C.H., F.C., D.F.v.R., N.I.W., M.S.v.d.K.), VU University Medical Center, Amsterdam, the Netherlands; Division of Child Neurology, Department of Neurology, Istanbul Faculty of Medicine (P.T., Z.Y.), and Division of Child Neurology
  • Paprocka J; From the Department of Child Neurology and Amsterdam Neuroscience (E.M.C.H., F.C., D.F.v.R., N.I.W., M.S.v.d.K.), VU University Medical Center, Amsterdam, the Netherlands; Division of Child Neurology, Department of Neurology, Istanbul Faculty of Medicine (P.T., Z.Y.), and Division of Child Neurology
  • Yapici Z; From the Department of Child Neurology and Amsterdam Neuroscience (E.M.C.H., F.C., D.F.v.R., N.I.W., M.S.v.d.K.), VU University Medical Center, Amsterdam, the Netherlands; Division of Child Neurology, Department of Neurology, Istanbul Faculty of Medicine (P.T., Z.Y.), and Division of Child Neurology
  • Bosnjak VM; From the Department of Child Neurology and Amsterdam Neuroscience (E.M.C.H., F.C., D.F.v.R., N.I.W., M.S.v.d.K.), VU University Medical Center, Amsterdam, the Netherlands; Division of Child Neurology, Department of Neurology, Istanbul Faculty of Medicine (P.T., Z.Y.), and Division of Child Neurology
  • van der Knaap MS; From the Department of Child Neurology and Amsterdam Neuroscience (E.M.C.H., F.C., D.F.v.R., N.I.W., M.S.v.d.K.), VU University Medical Center, Amsterdam, the Netherlands; Division of Child Neurology, Department of Neurology, Istanbul Faculty of Medicine (P.T., Z.Y.), and Division of Child Neurology
Neurology ; 90(16): e1395-e1403, 2018 04 17.
Article em En | MEDLINE | ID: mdl-29661901

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Proteínas / Doenças Desmielinizantes Hereditárias do Sistema Nervoso Central / Cistos / Proteínas de Membrana / Mutação Idioma: En Ano de publicação: 2018 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Proteínas / Doenças Desmielinizantes Hereditárias do Sistema Nervoso Central / Cistos / Proteínas de Membrana / Mutação Idioma: En Ano de publicação: 2018 Tipo de documento: Article