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Bi-allelic Mutations in NDUFA6 Establish Its Role in Early-Onset Isolated Mitochondrial Complex I Deficiency.
Alston, Charlotte L; Heidler, Juliana; Dibley, Marris G; Kremer, Laura S; Taylor, Lucie S; Fratter, Carl; French, Courtney E; Glasgow, Ruth I C; Feichtinger, René G; Delon, Isabelle; Pagnamenta, Alistair T; Dolling, Helen; Lemonde, Hugh; Aiton, Neil; Bjørnstad, Alf; Henneke, Lisa; Gärtner, Jutta; Thiele, Holger; Tauchmannova, Katerina; Quaghebeur, Gerardine; Houstek, Josef; Sperl, Wolfgang; Raymond, F Lucy; Prokisch, Holger; Mayr, Johannes A; McFarland, Robert; Poulton, Joanna; Ryan, Michael T; Wittig, Ilka; Henneke, Marco; Taylor, Robert W.
Afiliación
  • Alston CL; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Medical School, Newcastle University, Newcastle upon Tyne NE2 4HH, UK.
  • Heidler J; Functional Proteomics, SFB 815 Core Unit, Faculty of Medicine, Goethe-University, 60590 Frankfurt am Main, Germany.
  • Dibley MG; Department of Biochemistry and Molecular Biology, Monash Biomedicine Discovery Institute, Monash University, 3800 Melbourne, Australia.
  • Kremer LS; Institute of Human Genetics, Technische Universität München, 81675 Munich, Germany; Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany.
  • Taylor LS; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Medical School, Newcastle University, Newcastle upon Tyne NE2 4HH, UK.
  • Fratter C; Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, Churchill Hospital, Oxford OX3 7LE, UK.
  • French CE; Department of Medical Genetics, Cambridge Institute for Medical Research, University of Cambridge, Cambridge CB2 0XY, UK.
  • Glasgow RIC; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Medical School, Newcastle University, Newcastle upon Tyne NE2 4HH, UK.
  • Feichtinger RG; Department of Pediatrics, Salzburger Landeskliniken and Paracelsus Medical University, 5020 Salzburg, Austria.
  • Delon I; Cambridge University Hospitals NHS Foundation Trust, Cambridge Biomedical Campus, Cambridge CB2 0QQ, UK.
  • Pagnamenta AT; National Institute for Health Research Oxford Biomedical Research Centre, Wellcome Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK.
  • Dolling H; Department of Medical Genetics, Cambridge Institute for Medical Research, University of Cambridge, Cambridge CB2 0XY, UK; NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust, Cambridge Biomedical Campus, Cambridge CB2 0QQ, UK.
  • Lemonde H; Department of Inherited Metabolic Disease, Guy's and St. Thomas' NHS Foundation Trusts, Evelina London Children's Hospital, London SE1 7EH, UK.
  • Aiton N; Trevor Mann Baby Unit, Brighton and Sussex University Hospitals NHS Trust, Brighton BN2 5BE, UK.
  • Bjørnstad A; Department of Pediatrics, Drammen Sykehus, 3004 Drammen, Norway.
  • Henneke L; Department of Pediatrics and Adolescent Medicine, Division of Pediatric Neurology, University Medical Center Göttingen, 37075 Göttingen, Germany.
  • Gärtner J; Department of Pediatrics and Adolescent Medicine, Division of Pediatric Neurology, University Medical Center Göttingen, 37075 Göttingen, Germany.
  • Thiele H; Cologne Center for Genomics, University of Cologne, 50931 Cologne, Germany.
  • Tauchmannova K; Institute of Physiology, Czech Academy of Sciences, 142 20 Prague, Czech Republic.
  • Quaghebeur G; Department of Neuroradiology, Oxford University Hospitals NHS Foundation Trust, Oxford OX3 9DU, UK.
  • Houstek J; Institute of Physiology, Czech Academy of Sciences, 142 20 Prague, Czech Republic.
  • Sperl W; Department of Pediatrics, Salzburger Landeskliniken and Paracelsus Medical University, 5020 Salzburg, Austria.
  • Raymond FL; Department of Medical Genetics, Cambridge Institute for Medical Research, University of Cambridge, Cambridge CB2 0XY, UK; Cambridge University Hospitals NHS Foundation Trust, Cambridge Biomedical Campus, Cambridge CB2 0QQ, UK; NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foun
  • Prokisch H; Institute of Human Genetics, Technische Universität München, 81675 Munich, Germany; Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany.
  • Mayr JA; Department of Pediatrics, Salzburger Landeskliniken and Paracelsus Medical University, 5020 Salzburg, Austria.
  • McFarland R; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Medical School, Newcastle University, Newcastle upon Tyne NE2 4HH, UK.
  • Poulton J; Nuffield Department of Women's and Reproductive Health, University of Oxford, Oxford OX3 9DU, UK.
  • Ryan MT; Department of Biochemistry and Molecular Biology, Monash Biomedicine Discovery Institute, Monash University, 3800 Melbourne, Australia.
  • Wittig I; Functional Proteomics, SFB 815 Core Unit, Faculty of Medicine, Goethe-University, 60590 Frankfurt am Main, Germany; German Center of Cardiovascular Research, Partner Site Rhein Main, 60590 Frankfurt am Main, Germany; Cluster of Excellence "Macromolecular Complexes," Goethe-Universität, 60590 Frankfu
  • Henneke M; Department of Pediatrics and Adolescent Medicine, Division of Pediatric Neurology, University Medical Center Göttingen, 37075 Göttingen, Germany.
  • Taylor RW; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Medical School, Newcastle University, Newcastle upon Tyne NE2 4HH, UK. Electronic address: robert.taylor@ncl.ac.uk.
Am J Hum Genet ; 103(4): 592-601, 2018 10 04.
Article en En | MEDLINE | ID: mdl-30245030
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Enfermedades Mitocondriales / Proteínas Mitocondriales / Complejo I de Transporte de Electrón / Mutación Tipo de estudio: Prognostic_studies Límite: Female / Humans / Infant / Male Idioma: En Revista: Am J Hum Genet Año: 2018 Tipo del documento: Article País de afiliación: Reino Unido
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Enfermedades Mitocondriales / Proteínas Mitocondriales / Complejo I de Transporte de Electrón / Mutación Tipo de estudio: Prognostic_studies Límite: Female / Humans / Infant / Male Idioma: En Revista: Am J Hum Genet Año: 2018 Tipo del documento: Article País de afiliación: Reino Unido