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Deleterious variants in TRAK1 disrupt mitochondrial movement and cause fatal encephalopathy.
Barel, Ortal; Malicdan, May Christine V; Ben-Zeev, Bruria; Kandel, Judith; Pri-Chen, Hadass; Stephen, Joshi; Castro, Inês G; Metz, Jeremy; Atawa, Osama; Moshkovitz, Sharon; Ganelin, Esther; Barshack, Iris; Polak-Charcon, Sylvie; Nass, Dvora; Marek-Yagel, Dina; Amariglio, Ninette; Shalva, Nechama; Vilboux, Thierry; Ferreira, Carlos; Pode-Shakked, Ben; Heimer, Gali; Hoffmann, Chen; Yardeni, Tal; Nissenkorn, Andreea; Avivi, Camila; Eyal, Eran; Kol, Nitzan; Glick Saar, Efrat; Wallace, Douglas C; Gahl, William A; Rechavi, Gideon; Schrader, Michael; Eckmann, David M; Anikster, Yair.
Afiliación
  • Barel O; Sheba Cancer Research Center, Sheba Medical Center, Tel-Hashomer, Israel.
  • Malicdan MCV; The Wohl Institute for Translational Medicine, Sheba Medical Center, Tel-Hashomer, Israel.
  • Ben-Zeev B; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
  • Kandel J; NIH Undiagnosed Diseases Program, NHGRI, National Institutes of Health, Bethesda, Maryland, USA.
  • Pri-Chen H; The Wohl Institute for Translational Medicine, Sheba Medical Center, Tel-Hashomer, Israel.
  • Stephen J; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.
  • Castro IG; Pediatric Neurology Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, Israel.
  • Metz J; Department of Bioengineering, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
  • Atawa O; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
  • Moshkovitz S; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.
  • Ganelin E; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
  • Barshack I; Department of Biosciences, College of Life and Environmental Sciences, University of Exeter, Exeter, UK.
  • Polak-Charcon S; Department of Biosciences, College of Life and Environmental Sciences, University of Exeter, Exeter, UK.
  • Nass D; Palestenian Red Crescent Society Hospital, Department of Pediatrics, Hebron City, Palestine.
  • Marek-Yagel D; Sheba Cancer Research Center, Sheba Medical Center, Tel-Hashomer, Israel.
  • Amariglio N; The Wohl Institute for Translational Medicine, Sheba Medical Center, Tel-Hashomer, Israel.
  • Shalva N; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.
  • Vilboux T; Pediatric Neurology Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, Israel.
  • Ferreira C; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.
  • Pode-Shakked B; Department of Pathology, Sheba Medical Center, Tel-Hashomer, Israel.
  • Heimer G; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.
  • Hoffmann C; Department of Pathology, Sheba Medical Center, Tel-Hashomer, Israel.
  • Yardeni T; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.
  • Nissenkorn A; Department of Pathology, Sheba Medical Center, Tel-Hashomer, Israel.
  • Avivi C; The Wohl Institute for Translational Medicine, Sheba Medical Center, Tel-Hashomer, Israel.
  • Eyal E; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.
  • Kol N; Metabolic Disease Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, Israel.
  • Glick Saar E; Sheba Cancer Research Center, Sheba Medical Center, Tel-Hashomer, Israel.
  • Wallace DC; The Wohl Institute for Translational Medicine, Sheba Medical Center, Tel-Hashomer, Israel.
  • Gahl WA; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.
  • Rechavi G; Metabolic Disease Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, Israel.
  • Schrader M; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
  • Eckmann DM; Inova Translational Medicine Institute, Inova Health System, Falls Church, Virginia, USA.
  • Anikster Y; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
Brain ; 140(3): 568-581, 2017 03 01.
Article en En | MEDLINE | ID: mdl-28364549
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Encefalopatías / Proteínas Adaptadoras del Transporte Vesicular / Dinámicas Mitocondriales / Mitocondrias Límite: Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Brain Año: 2017 Tipo del documento: Article País de afiliación: Israel
Texto completo
Imprimir
XML
PubMed Links
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Encefalopatías / Proteínas Adaptadoras del Transporte Vesicular / Dinámicas Mitocondriales / Mitocondrias Límite: Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Brain Año: 2017 Tipo del documento: Article País de afiliación: Israel