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A Mitochondrial tRNA Mutation Causes Axonal CMT in a Large Venezuelan Family.
Fay, Alexander; Garcia, Yngo; Margeta, Marta; Maharjan, Sunita; Jürgensen, Claudia; Briceño, Jose; Garcia, Mariaelena; Yin, Sitao; Bassaganyas, Laia; McMahon, Thomas; Hou, Ya-Ming; Fu, Ying-Hui; Ptácek, Louis J.
Afiliação
  • Fay A; Department of Neurology, University of California, San Francisco, CA, USA.
  • Garcia Y; Department of Biochemistry, Faculty of Medicine, University of The Andes, Mérida, Venezuela.
  • Margeta M; Unit of Surgery, Neurosurgery Service, Medical Surgery Clinical Institute, Mérida, Venezuela.
  • Maharjan S; Department of Pathology, University of California, San Francisco, CA, USA.
  • Jürgensen C; Department of Biochemistry and Molecular Biology, Thomas Jefferson University, Philadelphia, PA, USA.
  • Briceño J; Department of Biology, Faculty of Science, University of The Andes, Mérida, Venezuela.
  • Garcia M; Physiotherapy and Rehabilitation Service, University Hospital of The Andes, Mérida, Venezuela.
  • Yin S; Department of Biology, Faculty of Science, University of The Andes, Mérida, Venezuela.
  • Bassaganyas L; Department of Biochemistry and Molecular Biology, Thomas Jefferson University, Philadelphia, PA, USA.
  • McMahon T; Department of Medical Genetics, University of Cambridge and Cardiovascular Research Institute, University of California, San Francisco, CA, USA.
  • Hou YM; Department of Neurology, University of California, San Francisco, CA, USA.
  • Fu YH; Department of Biochemistry and Molecular Biology, Thomas Jefferson University, Philadelphia, PA, USA.
  • Ptácek LJ; Department of Neurology, University of California, San Francisco, CA, USA.
Ann Neurol ; 88(4): 830-842, 2020 10.
Article em En | MEDLINE | ID: mdl-32715519
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: RNA de Transferência / Doença de Charcot-Marie-Tooth / RNA Mitocondrial Tipo de estudo: Etiology_studies / Prognostic_studies Limite: Adolescent / Adult / Aged80 / Child / Female / Humans / Male / Middle aged País/Região como assunto: America do sul / Venezuela Idioma: En Revista: Ann Neurol Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Estados Unidos
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: RNA de Transferência / Doença de Charcot-Marie-Tooth / RNA Mitocondrial Tipo de estudo: Etiology_studies / Prognostic_studies Limite: Adolescent / Adult / Aged80 / Child / Female / Humans / Male / Middle aged País/Região como assunto: America do sul / Venezuela Idioma: En Revista: Ann Neurol Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Estados Unidos