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KIF5A mutations cause an infantile onset phenotype including severe myoclonus with evidence of mitochondrial dysfunction.
Duis, Jessica; Dean, Shannon; Applegate, Carolyn; Harper, Amy; Xiao, Rui; He, Weimin; Dollar, James D; Sun, Lisa R; Waberski, Marta Biderman; Crawford, Thomas O; Hamosh, Ada; Stafstrom, Carl E.
Afiliación
  • Duis J; McKusick-Nathans Institute of Genetic Medicine, Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD. jduis1@jhmi.edu.
  • Dean S; Pediatric Neurology, Johns Hopkins University School of Medicine, Baltimore, MD.
  • Applegate C; McKusick-Nathans Institute of Genetic Medicine, Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD.
  • Harper A; Carolinas Pediatric Neurology Care, Charlotte, NC.
  • Xiao R; Department of Molecular and Human Genetics, Baylor Miraca Genetics Laboratories, Baylor College of Medicine, Houston, TX.
  • He W; Department of Molecular and Human Genetics, Baylor Miraca Genetics Laboratories, Baylor College of Medicine, Houston, TX.
  • Dollar JD; Carolinas Pathology Group, Charlotte, NC.
  • Sun LR; Pediatric Neurology, Johns Hopkins University School of Medicine, Baltimore, MD.
  • Waberski MB; Genetics and Molecular Biology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD.
  • Crawford TO; Pediatric Neurology, Johns Hopkins University School of Medicine, Baltimore, MD.
  • Hamosh A; McKusick-Nathans Institute of Genetic Medicine, Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD.
  • Stafstrom CE; Pediatric Neurology, Johns Hopkins University School of Medicine, Baltimore, MD.
Ann Neurol ; 80(4): 633-7, 2016 Oct.
Article en En | MEDLINE | ID: mdl-27463701
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Cinesinas / Enfermedades Mitocondriales / Mioclonía Límite: Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Ann Neurol Año: 2016 Tipo del documento: Article País de afiliación: Moldova
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Cinesinas / Enfermedades Mitocondriales / Mioclonía Límite: Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Ann Neurol Año: 2016 Tipo del documento: Article País de afiliación: Moldova