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Biallelic Mutations in TMEM126B Cause Severe Complex I Deficiency with a Variable Clinical Phenotype.
Alston, Charlotte L; Compton, Alison G; Formosa, Luke E; Strecker, Valentina; Oláhová, Monika; Haack, Tobias B; Smet, Joél; Stouffs, Katrien; Diakumis, Peter; Ciara, Elzbieta; Cassiman, David; Romain, Nadine; Yarham, John W; He, Langping; De Paepe, Boel; Vanlander, Arnaud V; Seneca, Sara; Feichtinger, René G; Ploski, Rafal; Rokicki, Dariusz; Pronicka, Ewa; Haller, Ronald G; Van Hove, Johan L K; Bahlo, Melanie; Mayr, Johannes A; Van Coster, Rudy; Prokisch, Holger; Wittig, Ilka; Ryan, Michael T; Thorburn, David R; Taylor, Robert W.
Afiliação
  • Alston CL; Wellcome Trust Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University Medical School, Newcastle upon Tyne NE2 4HH, UK.
  • Compton AG; Murdoch Childrens Research Institute and Victorian Clinical Genetic Services, Royal Children's Hospital, Melbourne, VIC 3052, Australia; Department of Paediatrics, University of Melbourne, Melbourne, VIC 3052, Australia.
  • Formosa LE; Department of Biochemistry and Molecular Biology, Monash Biomedicine Discovery Institute, Monash University, Clayton Campus, Melbourne, VIC 3800, Australia.
  • Strecker V; Functional Proteomics, SFB 815 Core Unit, Goethe-Universität, Theodor-Stern-kai 7, Haus 26, 60590 Frankfurt am Main, Germany.
  • Oláhová M; Wellcome Trust Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University Medical School, Newcastle upon Tyne NE2 4HH, UK.
  • Haack TB; Institute of Human Genetics, Technische Universität München, 81675 München, Germany; Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany.
  • Smet J; Division of Pediatric Neurology and Metabolism, Department of Pediatrics, Ghent University Hospital, De Pintelaan 185, 9000 Ghent, Belgium.
  • Stouffs K; Center for Medical Genetics, UZ Brussel, Research Group Reproduction and Genetics, Vrije Universiteit Brussel, 1090 Brussels, Belgium.
  • Diakumis P; Population Health & Immunity Division, Walter and Eliza Hall Institute of Medical Research, Melbourne, VIC 3052, Australia.
  • Ciara E; Department of Medical Genetics, Children's Memorial Health Institute, 04-730 Warsaw, Poland.
  • Cassiman D; Metabolic Center, University Hospitals Leuven, 3000 Leuven, Belgium.
  • Romain N; Neuromuscular Center, Institute for Exercise and Environmental Medicine, Texas Health Presbyterian Hospital, Dallas, TX 75231, USA.
  • Yarham JW; Wellcome Trust Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University Medical School, Newcastle upon Tyne NE2 4HH, UK.
  • He L; Wellcome Trust Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University Medical School, Newcastle upon Tyne NE2 4HH, UK.
  • De Paepe B; Division of Pediatric Neurology and Metabolism, Department of Pediatrics, Ghent University Hospital, De Pintelaan 185, 9000 Ghent, Belgium.
  • Vanlander AV; Division of Pediatric Neurology and Metabolism, Department of Pediatrics, Ghent University Hospital, De Pintelaan 185, 9000 Ghent, Belgium.
  • Seneca S; Center for Medical Genetics, UZ Brussel, Research Group Reproduction and Genetics, Vrije Universiteit Brussel, 1090 Brussels, Belgium.
  • Feichtinger RG; Department of Pediatrics, University Hospital Salzburg, Paracelsus Medical University, 5020 Salzburg, Austria.
  • Ploski R; Department of Medical Genetics, Warsaw Medical University, 02-106 Warsaw, Poland.
  • Rokicki D; Department of Pediatrics, Nutrition and Metabolic Diseases, Children's Memorial Health Institute, 04-730 Warsaw, Poland.
  • Pronicka E; Department of Medical Genetics, Children's Memorial Health Institute, 04-730 Warsaw, Poland; Department of Pediatrics, Nutrition and Metabolic Diseases, Children's Memorial Health Institute, 04-730 Warsaw, Poland.
  • Haller RG; Neuromuscular Center, Institute for Exercise and Environmental Medicine, Texas Health Presbyterian Hospital, Dallas, TX 75231, USA; Department of Neurology and Neurotherapeutics, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA.
  • Van Hove JL; Metabolic Center, University Hospitals Leuven, 3000 Leuven, Belgium; Department of Pediatrics, University of Colorado, Aurora, CO 80045, USA.
  • Bahlo M; Population Health & Immunity Division, Walter and Eliza Hall Institute of Medical Research, Melbourne, VIC 3052, Australia; Department of Medical Biology, University of Melbourne, Melbourne, VIC 3052, Australia.
  • Mayr JA; Department of Pediatrics, University Hospital Salzburg, Paracelsus Medical University, 5020 Salzburg, Austria.
  • Van Coster R; Division of Pediatric Neurology and Metabolism, Department of Pediatrics, Ghent University Hospital, De Pintelaan 185, 9000 Ghent, Belgium.
  • Prokisch H; Institute of Human Genetics, Technische Universität München, 81675 München, Germany; Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany.
  • Wittig I; Functional Proteomics, SFB 815 Core Unit, Goethe-Universität, Theodor-Stern-kai 7, Haus 26, 60590 Frankfurt am Main, Germany; Cluster of Excellence "Macromolecular Complexes," Goethe-Universität, 60438 Frankfurt am Main, Germany; German Center for Cardiovascular Research, Partner Site RheinMain, 605
  • Ryan MT; Department of Biochemistry and Molecular Biology, Monash Biomedicine Discovery Institute, Monash University, Clayton Campus, Melbourne, VIC 3800, Australia.
  • Thorburn DR; Murdoch Childrens Research Institute and Victorian Clinical Genetic Services, Royal Children's Hospital, Melbourne, VIC 3052, Australia; Department of Paediatrics, University of Melbourne, Melbourne, VIC 3052, Australia. Electronic address: david.thorburn@mcri.edu.au.
  • Taylor RW; Wellcome Trust Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University Medical School, Newcastle upon Tyne NE2 4HH, UK. Electronic address: robert.taylor@ncl.ac.uk.
Am J Hum Genet ; 99(1): 217-27, 2016 Jul 07.
Article em En | MEDLINE | ID: mdl-27374774
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fenótipo / Doenças Mitocondriais / Complexo I de Transporte de Elétrons / Alelos / Proteínas de Membrana / Mutação Tipo de estudo: Prognostic_studies Limite: Adolescent / Adult / Child / Female / Humans / Infant / Male / Middle aged Idioma: En Revista: Am J Hum Genet Ano de publicação: 2016 Tipo de documento: Article País de afiliação: Reino Unido País de publicação: Estados Unidos
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fenótipo / Doenças Mitocondriais / Complexo I de Transporte de Elétrons / Alelos / Proteínas de Membrana / Mutação Tipo de estudo: Prognostic_studies Limite: Adolescent / Adult / Child / Female / Humans / Infant / Male / Middle aged Idioma: En Revista: Am J Hum Genet Ano de publicação: 2016 Tipo de documento: Article País de afiliação: Reino Unido País de publicação: Estados Unidos