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LRPPRC mutations cause early-onset multisystem mitochondrial disease outside of the French-Canadian population.
Oláhová, Monika; Hardy, Steven A; Hall, Julie; Yarham, John W; Haack, Tobias B; Wilson, William C; Alston, Charlotte L; He, Langping; Aznauryan, Erik; Brown, Ruth M; Brown, Garry K; Morris, Andrew A M; Mundy, Helen; Broomfield, Alex; Barbosa, Ines A; Simpson, Michael A; Deshpande, Charu; Moeslinger, Dorothea; Koch, Johannes; Stettner, Georg M; Bonnen, Penelope E; Prokisch, Holger; Lightowlers, Robert N; McFarland, Robert; Chrzanowska-Lightowlers, Zofia M A; Taylor, Robert W.
Affiliation
  • Oláhová M; 1 Wellcome Trust Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK.
  • Hardy SA; 1 Wellcome Trust Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK.
  • Hall J; 2 Department of Neuroradiology, Royal Victoria Infirmary, Newcastle upon Tyne, NE1 3BZ, UK.
  • Yarham JW; 1 Wellcome Trust Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK.
  • Haack TB; 3 Institute of Human Genetics, Helmholtz Zentrum München, Ingolstädter Landstrasse 1, D-85764 Neuherberg, Germany 4 Institut für Humangenetik, Technische Universität München, Arcisstrasse 21, 80333 Munich, Germany.
  • Wilson WC; 1 Wellcome Trust Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK.
  • Alston CL; 1 Wellcome Trust Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK.
  • He L; 1 Wellcome Trust Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK.
  • Aznauryan E; 1 Wellcome Trust Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK.
  • Brown RM; 5 Department of Biochemistry, University of Oxford, South Parks Road, Oxford, OX1 3QU, UK.
  • Brown GK; 5 Department of Biochemistry, University of Oxford, South Parks Road, Oxford, OX1 3QU, UK.
  • Morris AA; 6 Willink Biochemical Genetics Unit, Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Manchester, M13 9WL, UK.
  • Mundy H; 7 Centre for Inherited Metabolic Disease, Evelina Children's Hospital, Guy's and St. Thomas' NHS Foundation Trust, London, SE1 7EH, UK.
  • Broomfield A; 6 Willink Biochemical Genetics Unit, Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Manchester, M13 9WL, UK.
  • Barbosa IA; 8 Division of Genetics and Molecular Medicine, King's College London School of Medicine, London, SE1 9RY, UK.
  • Simpson MA; 8 Division of Genetics and Molecular Medicine, King's College London School of Medicine, London, SE1 9RY, UK.
  • Deshpande C; 9 Department of Genetics, Guy's and St. Thomas' NHS Foundation Trust, London, SE1 9RT, UK.
  • Moeslinger D; 10 Department of Paediatrics, University Children's Hospital, A-1090 Vienna, Austria.
  • Koch J; 11 Department of Paediatrics, Paracelsus Medical University Salzburg, 5020 Salzburg, Austria.
  • Stettner GM; 12 Department of Paediatric Neurology, Georg August University, 37075 Göttingen, Germany.
  • Bonnen PE; 13 Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Prokisch H; 3 Institute of Human Genetics, Helmholtz Zentrum München, Ingolstädter Landstrasse 1, D-85764 Neuherberg, Germany 4 Institut für Humangenetik, Technische Universität München, Arcisstrasse 21, 80333 Munich, Germany.
  • Lightowlers RN; 1 Wellcome Trust Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK.
  • McFarland R; 1 Wellcome Trust Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK.
  • Chrzanowska-Lightowlers ZM; 1 Wellcome Trust Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK.
  • Taylor RW; 1 Wellcome Trust Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK robert.taylor@ncl.ac.uk.
Brain ; 138(Pt 12): 3503-19, 2015 Dec.
Article in En | MEDLINE | ID: mdl-26510951
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Proteins / Cytochrome-c Oxidase Deficiency / Mitochondrial Diseases / Neoplasm Proteins Limits: Child, preschool / Female / Humans / Infant / Male / Newborn Country/Region as subject: America do norte Language: En Journal: Brain Year: 2015 Type: Article Affiliation country: United kingdom
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Proteins / Cytochrome-c Oxidase Deficiency / Mitochondrial Diseases / Neoplasm Proteins Limits: Child, preschool / Female / Humans / Infant / Male / Newborn Country/Region as subject: America do norte Language: En Journal: Brain Year: 2015 Type: Article Affiliation country: United kingdom