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Mutations in the mitochondrial cysteinyl-tRNA synthase gene, CARS2, lead to a severe epileptic encephalopathy and complex movement disorder.
Coughlin, Curtis R; Scharer, Gunter H; Friederich, Marisa W; Yu, Hung-Chun; Geiger, Elizabeth A; Creadon-Swindell, Geralyn; Collins, Abigail E; Vanlander, Arnaud V; Coster, Rudy Van; Powell, Christopher A; Swanson, Michael A; Minczuk, Michal; Van Hove, Johan L K; Shaikh, Tamim H.
Afiliação
  • Coughlin CR; Department of Pediatrics, Section of Genetics, University of Colorado School of Medicine, Aurora, Colorado, USA.
  • Scharer GH; Department of Pediatrics, Section of Genetics, University of Colorado School of Medicine, Aurora, Colorado, USA Intellectual and Developmental Disabilities Research Center, University of Colorado School of Medicine, Aurora, Colorado, USA Department of Pediatrics, Section of Clinical Genetics, Medica
  • Friederich MW; Department of Pediatrics, Section of Genetics, University of Colorado School of Medicine, Aurora, Colorado, USA.
  • Yu HC; Department of Pediatrics, Section of Genetics, University of Colorado School of Medicine, Aurora, Colorado, USA.
  • Geiger EA; Department of Pediatrics, Section of Genetics, University of Colorado School of Medicine, Aurora, Colorado, USA.
  • Creadon-Swindell G; Department of Pediatrics, Section of Genetics, University of Colorado School of Medicine, Aurora, Colorado, USA.
  • Collins AE; Department of Pediatrics, Section of Neurology, University of Colorado School of Medicine, Aurora, Colorado, USA.
  • Vanlander AV; Department of Pediatrics, Division of Pediatric Neurology and Metabolism, Ghent University Hospital, Ghent, Belgium.
  • Coster RV; Department of Pediatrics, Division of Pediatric Neurology and Metabolism, Ghent University Hospital, Ghent, Belgium.
  • Powell CA; MRC Mitochondrial Biology Unit, Cambridge, UK.
  • Swanson MA; Department of Pediatrics, Section of Genetics, University of Colorado School of Medicine, Aurora, Colorado, USA.
  • Minczuk M; MRC Mitochondrial Biology Unit, Cambridge, UK.
  • Van Hove JL; Department of Pediatrics, Section of Genetics, University of Colorado School of Medicine, Aurora, Colorado, USA.
  • Shaikh TH; Department of Pediatrics, Section of Genetics, University of Colorado School of Medicine, Aurora, Colorado, USA Intellectual and Developmental Disabilities Research Center, University of Colorado School of Medicine, Aurora, Colorado, USA.
J Med Genet ; 52(8): 532-40, 2015 Aug.
Article em En | MEDLINE | ID: mdl-25787132
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Encefalopatias / Epilepsia / Aminoacil-tRNA Sintetases Tipo de estudo: Prognostic_studies Limite: Child / Humans / Male Idioma: En Ano de publicação: 2015 Tipo de documento: Article
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Encefalopatias / Epilepsia / Aminoacil-tRNA Sintetases Tipo de estudo: Prognostic_studies Limite: Child / Humans / Male Idioma: En Ano de publicação: 2015 Tipo de documento: Article