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Clinical and genetic characterization of AP4B1-associated SPG47.
Ebrahimi-Fakhari, Darius; Cheng, Chi; Dies, Kira; Diplock, Amelia; Pier, Danielle B; Ryan, Conor S; Lanpher, Brendan C; Hirst, Jennifer; Chung, Wendy K; Sahin, Mustafa; Rosser, Elisabeth; Darras, Basil; Bennett, James T.
Afiliação
  • Ebrahimi-Fakhari D; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.
  • Cheng C; Division of General Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.
  • Dies K; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington.
  • Diplock A; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.
  • Pier DB; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.
  • Ryan CS; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.
  • Lanpher BC; Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts.
  • Hirst J; Department of Child and Adolescent Neurology, Mayo Clinic, Rochester, Minnesota.
  • Chung WK; Department of Clinical Genomics, Mayo Clinic, Rochester, Minnesota.
  • Sahin M; Cambridge Institute for Medical Research, University of Cambridge, Addenbrooke's Hospital, Cambridge, UK.
  • Rosser E; Department of Pediatrics and Medicine, Columbia University Medical Center, New York, New York.
  • Darras B; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.
  • Bennett JT; Department of Clinical Genetics, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
Am J Med Genet A ; 176(2): 311-318, 2018 02.
Article em En | MEDLINE | ID: mdl-29193663
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Paraplegia Espástica Hereditária / Predisposição Genética para Doença / Complexo 4 de Proteínas Adaptadoras / Estudos de Associação Genética Tipo de estudo: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Limite: Child / Child, preschool / Female / Humans / Male Idioma: En Ano de publicação: 2018 Tipo de documento: Article
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Paraplegia Espástica Hereditária / Predisposição Genética para Doença / Complexo 4 de Proteínas Adaptadoras / Estudos de Associação Genética Tipo de estudo: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Limite: Child / Child, preschool / Female / Humans / Male Idioma: En Ano de publicação: 2018 Tipo de documento: Article