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Novel pathogenic COX20 variants causing dysarthria, ataxia, and sensory neuropathy.
Otero, Maria G; Tiongson, Emmanuelle; Diaz, Frank; Haude, Katrina; Panzer, Karin; Collier, Ashley; Kim, Jaemin; Adams, David; Tifft, Cynthia J; Cui, Hong; Millian Zamora, Francisca; Au, Margaret G; Graham, John M; Buckley, David J; Lewis, Richard; Toro, Camilo; Bai, Renkui; Turner, Lesley; Mathews, Katherine D; Gahl, William; Pierson, Tyler Mark.
Afiliação
  • Otero MG; Board of Governors Regenerative Medicine Institute Cedars-Sinai Medical Center Los Angeles California.
  • Tiongson E; Division of Neurology Children's Hospital of Los Angeles Los Angeles California.
  • Diaz F; Department of Neurology Cedars-Sinai Medical Center Los Angeles California.
  • Haude K; GeneDx Gaithersburg Maryland.
  • Panzer K; Department of Pediatrics University of Iowa Stead Family Children's Hospital Iowa City Iowa.
  • Collier A; Provincial Medical Genetics Program Eastern Health St. John's Newfoundland and Labrador Canada.
  • Kim J; Board of Governors Regenerative Medicine Institute Cedars-Sinai Medical Center Los Angeles California.
  • Adams D; NIH Undiagnosed Diseases Program NIH Office of Rare Diseases Research and NHGRI Bethesda Maryland.
  • Tifft CJ; Office of the Clinical Director NHGRI, NIH Bethesda Maryland.
  • Cui H; NIH Undiagnosed Diseases Program NIH Office of Rare Diseases Research and NHGRI Bethesda Maryland.
  • Millian Zamora F; Office of the Clinical Director NHGRI, NIH Bethesda Maryland.
  • Au MG; GeneDx Gaithersburg Maryland.
  • Graham JM; GeneDx Gaithersburg Maryland.
  • Buckley DJ; Department of Pediatrics Cedars-Sinai Medical Center Los Angeles California.
  • Lewis R; Department of Pediatrics Cedars-Sinai Medical Center Los Angeles California.
  • Toro C; Department of Pediatrics Janeway Health Centre St. John's Newfoundland and Labrador Canada.
  • Bai R; Department of Neurology Cedars-Sinai Medical Center Los Angeles California.
  • Turner L; NIH Undiagnosed Diseases Program NIH Office of Rare Diseases Research and NHGRI Bethesda Maryland.
  • Mathews KD; Office of the Clinical Director NHGRI, NIH Bethesda Maryland.
  • Gahl W; GeneDx Gaithersburg Maryland.
  • Pierson TM; Faculty of Medicine Memorial University of Newfoundland St. John's Newfoundland Canada.
Ann Clin Transl Neurol ; 6(1): 154-160, 2019 01.
Article em En | MEDLINE | ID: mdl-30656193
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Ataxia / Neuropatias Hereditárias Sensoriais e Autônomas / Complexo IV da Cadeia de Transporte de Elétrons / Disartria Tipo de estudo: Prognostic_studies Limite: Adolescent / Adult / Child / Female / Humans / Male Idioma: En Ano de publicação: 2019 Tipo de documento: Article
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Ataxia / Neuropatias Hereditárias Sensoriais e Autônomas / Complexo IV da Cadeia de Transporte de Elétrons / Disartria Tipo de estudo: Prognostic_studies Limite: Adolescent / Adult / Child / Female / Humans / Male Idioma: En Ano de publicação: 2019 Tipo de documento: Article