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Pathogenic Bi-allelic Mutations in NDUFAF8 Cause Leigh Syndrome with an Isolated Complex I Deficiency.
Alston, Charlotte L; Veling, Mike T; Heidler, Juliana; Taylor, Lucie S; Alaimo, Joseph T; Sung, Andrew Y; He, Langping; Hopton, Sila; Broomfield, Alexander; Pavaine, Julija; Diaz, Jullianne; Leon, Eyby; Wolf, Philipp; McFarland, Robert; Prokisch, Holger; Wortmann, Saskia B; Bonnen, Penelope E; Wittig, Ilka; Pagliarini, David J; Taylor, Robert W.
Afiliación
  • Alston CL; Wellcome Centre for Mitochondrial Research, Newcastle University, Framlington Place, Newcastle upon Tyne, NE2 4HH, UK; NHS Highly Specialised Services for Rare Mitochondrial Disorders, Royal Victoria Infirmary, Newcastle upon Tyne Hospitals NHS Foundation Trust, Queen Victoria Road, Newcastle upon T
  • Veling MT; Morgridge Institute for Research, Madison, WI 53715, USA; Department of Biochemistry, University of Wisconsin-Madison, Madison, WI 53706, USA; Department of Systems Biology, Harvard Medical School, Boston, MA 02115, USA.
  • Heidler J; Functional Proteomics, Goethe-Universität, Frankfurt am Main, 60590 Frankfurt, Germany.
  • Taylor LS; Wellcome Centre for Mitochondrial Research, Newcastle University, Framlington Place, Newcastle upon Tyne, NE2 4HH, UK.
  • Alaimo JT; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Sung AY; Morgridge Institute for Research, Madison, WI 53715, USA; Department of Biochemistry, University of Wisconsin-Madison, Madison, WI 53706, USA.
  • He L; Wellcome Centre for Mitochondrial Research, Newcastle University, Framlington Place, Newcastle upon Tyne, NE2 4HH, UK; NHS Highly Specialised Services for Rare Mitochondrial Disorders, Royal Victoria Infirmary, Newcastle upon Tyne Hospitals NHS Foundation Trust, Queen Victoria Road, Newcastle upon T
  • Hopton S; Wellcome Centre for Mitochondrial Research, Newcastle University, Framlington Place, Newcastle upon Tyne, NE2 4HH, UK; NHS Highly Specialised Services for Rare Mitochondrial Disorders, Royal Victoria Infirmary, Newcastle upon Tyne Hospitals NHS Foundation Trust, Queen Victoria Road, Newcastle upon T
  • Broomfield A; Manchester Centre for Genomic Medicine, Saint Mary's Hospital, Oxford Road, Manchester, M13 9WL, UK.
  • Pavaine J; Academic Unit of Paediatric Radiology, Royal Manchester Children's Hospital, Manchester University Hospitals NHS Foundation Trust, Oxford Road, Manchester, M13 9WL, UK; Division of Informatics, Imaging, and Data Sciences, School of Health Sciences, Faculty of Biology, Medicine, and Health, Universit
  • Diaz J; Rare Disease Institute, Children's National Hospital, Washington, DC 20010, USA.
  • Leon E; Rare Disease Institute, Children's National Hospital, Washington, DC 20010, USA.
  • Wolf P; DRK Kinderklinik, Siegen, Wellersbergstraße 60, 57072 Siegen, Germany.
  • McFarland R; Wellcome Centre for Mitochondrial Research, Newcastle University, Framlington Place, Newcastle upon Tyne, NE2 4HH, UK; NHS Highly Specialised Services for Rare Mitochondrial Disorders, Royal Victoria Infirmary, Newcastle upon Tyne Hospitals NHS Foundation Trust, Queen Victoria Road, Newcastle upon T
  • Prokisch H; Institute of Human Genetics, Technische Universität München, 81675 München, Germany; Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany.
  • Wortmann SB; Institute of Human Genetics, Technische Universität München, 81675 München, Germany; Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany; Department of Pediatrics, Salzburger Landeskliniken (SALK), Paracelsus Medical University (PMU), 5020 Salzburg, Austria.
  • Bonnen PE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Wittig I; Functional Proteomics, Goethe-Universität, Frankfurt am Main, 60590 Frankfurt, Germany; German Center for Cardiovascular Research (DZHK), Partner Site RheinMain, 60590 Frankfurt, Germany.
  • Pagliarini DJ; Morgridge Institute for Research, Madison, WI 53715, USA; Department of Biochemistry, University of Wisconsin-Madison, Madison, WI 53706, USA. Electronic address: dpagliarini@morgridge.org.
  • Taylor RW; Wellcome Centre for Mitochondrial Research, Newcastle University, Framlington Place, Newcastle upon Tyne, NE2 4HH, UK; NHS Highly Specialised Services for Rare Mitochondrial Disorders, Royal Victoria Infirmary, Newcastle upon Tyne Hospitals NHS Foundation Trust, Queen Victoria Road, Newcastle upon T
Am J Hum Genet ; 106(1): 92-101, 2020 01 02.
Article en En | MEDLINE | ID: mdl-31866046
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Enfermedad de Leigh / Enfermedades Mitocondriales / Proteínas Mitocondriales / Complejo I de Transporte de Electrón / Fibroblastos / Mutación / NADH Deshidrogenasa Tipo de estudio: Prognostic_studies Límite: Female / Humans / Infant / Male Idioma: En Revista: Am J Hum Genet Año: 2020 Tipo del documento: Article
Texto completo
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Enfermedad de Leigh / Enfermedades Mitocondriales / Proteínas Mitocondriales / Complejo I de Transporte de Electrón / Fibroblastos / Mutación / NADH Deshidrogenasa Tipo de estudio: Prognostic_studies Límite: Female / Humans / Infant / Male Idioma: En Revista: Am J Hum Genet Año: 2020 Tipo del documento: Article