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SCO2 mutations cause early-onset axonal Charcot-Marie-Tooth disease associated with cellular copper deficiency.
Rebelo, Adriana P; Saade, Dimah; Pereira, Claudia V; Farooq, Amjad; Huff, Tyler C; Abreu, Lisa; Moraes, Carlos T; Mnatsakanova, Diana; Mathews, Kathy; Yang, Hua; Schon, Eric A; Zuchner, Stephan; Shy, Michael E.
Afiliação
  • Rebelo AP; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, USA.
  • Saade D; Department of Neurology, Carver College of Medicine, University of Iowa, Iowa City, USA.
  • Pereira CV; Department of Neurology, University of Miami, Miami, USA.
  • Farooq A; Biochemistry Department, University of Miami Miller School of Medicine, Miami, USA.
  • Huff TC; Department of Neurology, University of Miami, Miami, USA.
  • Abreu L; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, USA.
  • Moraes CT; Department of Neurology, University of Miami, Miami, USA.
  • Mnatsakanova D; Department of Neurology, Carver College of Medicine, University of Iowa, Iowa City, USA.
  • Mathews K; Department of Neurology, Carver College of Medicine, University of Iowa, Iowa City, USA.
  • Yang H; Department of Neurology, Columbia University Medical Center, New York, USA.
  • Schon EA; Department of Neurology, Columbia University Medical Center, New York, USA.
  • Zuchner S; Department of Genetics and Development, Columbia University Medical Center, New York, USA.
  • Shy ME; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, USA.
Brain ; 141(3): 662-672, 2018 03 01.
Article em En | MEDLINE | ID: mdl-29351582
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteínas de Transporte / Doença de Charcot-Marie-Tooth / Cobre / Proteínas Mitocondriais / Mutação Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Adult / Animals / Child / Female / Humans / Male Idioma: En Ano de publicação: 2018 Tipo de documento: Article
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteínas de Transporte / Doença de Charcot-Marie-Tooth / Cobre / Proteínas Mitocondriais / Mutação Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Adult / Animals / Child / Female / Humans / Male Idioma: En Ano de publicação: 2018 Tipo de documento: Article