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Loss of the smallest subunit of cytochrome c oxidase, COX8A, causes Leigh-like syndrome and epilepsy.
Hallmann, Kerstin; Kudin, Alexei P; Zsurka, Gábor; Kornblum, Cornelia; Reimann, Jens; Stüve, Burkhard; Waltz, Stephan; Hattingen, Elke; Thiele, Holger; Nürnberg, Peter; Rüb, Cornelia; Voos, Wolfgang; Kopatz, Jens; Neumann, Harald; Kunz, Wolfram S.
Afiliação
  • Hallmann K; 1 Department of Epileptology and Life and Brain Centre, University of Bonn, Bonn, Germany.
  • Kudin AP; 1 Department of Epileptology and Life and Brain Centre, University of Bonn, Bonn, Germany.
  • Zsurka G; 1 Department of Epileptology and Life and Brain Centre, University of Bonn, Bonn, Germany.
  • Kornblum C; 2 Department of Neurology, University of Bonn, Bonn, Germany.
  • Reimann J; 2 Department of Neurology, University of Bonn, Bonn, Germany.
  • Stüve B; 3 Children's Hospital Cologne, Cologne, Germany.
  • Waltz S; 3 Children's Hospital Cologne, Cologne, Germany.
  • Hattingen E; 4 Department of Radiology, Division of Neuroradiology, University of Bonn, Bonn, Germany.
  • Thiele H; 5 Cologne Centre for Genomics (CCG), University of Cologne, Cologne, Germany.
  • Nürnberg P; 5 Cologne Centre for Genomics (CCG), University of Cologne, Cologne, Germany 6 Centre for Molecular Medicine Cologne (CMMC), University of Cologne, Cologne, Germany 7 Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne, Cologne, Germany
  • Rüb C; 8 Institut für Biochemie und Molekularbiologie, University of Bonn, Bonn, Germany.
  • Voos W; 8 Institut für Biochemie und Molekularbiologie, University of Bonn, Bonn, Germany.
  • Kopatz J; 9 Neural Regeneration Group, Institute of Reconstructive Neurobiology, University of Bonn, Bonn, Germany.
  • Neumann H; 9 Neural Regeneration Group, Institute of Reconstructive Neurobiology, University of Bonn, Bonn, Germany.
  • Kunz WS; 1 Department of Epileptology and Life and Brain Centre, University of Bonn, Bonn, Germany wolfram.kunz@ukb.uni-bonn.de.
Brain ; 139(Pt 2): 338-45, 2016 Feb.
Article em En | MEDLINE | ID: mdl-26685157
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doença de Leigh / Complexo IV da Cadeia de Transporte de Elétrons / Subunidades Proteicas / Epilepsia Tipo de estudo: Etiology_studies / Prognostic_studies Limite: Child / Female / Humans Idioma: En Ano de publicação: 2016 Tipo de documento: Article
Texto completo
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XML
PubMed Links
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doença de Leigh / Complexo IV da Cadeia de Transporte de Elétrons / Subunidades Proteicas / Epilepsia Tipo de estudo: Etiology_studies / Prognostic_studies Limite: Child / Female / Humans Idioma: En Ano de publicação: 2016 Tipo de documento: Article