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Bi-allelic Mutations in NDUFA6 Establish Its Role in Early-Onset Isolated Mitochondrial Complex I Deficiency

Autor: 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.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od_______518::50931f8bcae7e46a007bd91d34330653
https://mediatum.ub.tum.de/1525534

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Bi-allelic Mutations in NDUFA6 Establish Its Role in Early-Onset Isolated Mitochondrial Complex I Deficiency.

Autor: 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 Foundation Trust, Cambridge Biomedical Campus, Cambridge CB2 0QQ, UK., 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 Frankfurt am Main, Germany., 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.

Publikováno v: American journal of human genetics [Am J Hum Genet] 2018 Oct 04; Vol. 103 (4), pp. 592-601. Date of Electronic Publication: 2018 Sep 20.