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Pathogenic variants in MT-ATP6: A United Kingdom-based mitochondrial disease cohort study.
Ng, Yi Shiau; Martikainen, Mika H; Gorman, Gráinne S; Blain, Alasdair; Bugiardini, Enrico; Bunting, Apphia; Schaefer, Andrew M; Alston, Charlotte L; Blakely, Emma L; Sharma, Sunil; Hughes, Imelda; Lim, Albert; de Goede, Christian; McEntagart, Meriel; Spinty, Stefan; Horrocks, Iain; Roberts, Mark; Woodward, Cathy E; Chinnery, Patrick F; Horvath, Rita; Nesbitt, Victoria; Fratter, Carl; Poulton, Joanna; Hanna, Michael G; Pitceathly, Robert D S; Taylor, Robert W; Turnbull, Doug M; McFarland, Robert.
Afiliação
  • Ng YS; Wellcome Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne, United Kingdom.
  • Martikainen MH; Wellcome Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne, United Kingdom.
  • Gorman GS; Faculty of Medicine, University of Turku, and Division of Clinical Neurosciences, Turku University Hospital, Turku, Finland.
  • Blain A; Wellcome Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne, United Kingdom.
  • Bugiardini E; Wellcome Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne, United Kingdom.
  • Bunting A; Medical Research Council Centre for Neuromuscular Diseases, University College London Queen Square Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, United Kingdom.
  • Schaefer AM; Department of Neuromuscular Diseases, University College London Queen Square Institute of Neurology, London, United Kingdom.
  • Alston CL; Nuffield Department of Obstetrics and Gynaecology, University of Oxford, Oxford, United Kingdom.
  • Blakely EL; Wellcome Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne, United Kingdom.
  • Sharma S; Wellcome Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne, United Kingdom.
  • Hughes I; Wellcome Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne, United Kingdom.
  • Lim A; Wellcome Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne, United Kingdom.
  • de Goede C; Royal Manchester Children's Hospital, Central Manchester University Hospitals National Health Service Foundation Trust, Manchester, United Kingdom.
  • McEntagart M; Wellcome Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne, United Kingdom.
  • Spinty S; Department of Paediatric Neurology, Royal Preston Hospital, Preston, United Kingdom.
  • Horrocks I; South West Thames Regional Genetics Service, St. George's Hospital, London, United Kingdom.
  • Roberts M; Alder Hey Children's National Health Service Foundation Trust, Liverpool, United Kingdom.
  • Woodward CE; Greater Glasgow and Clyde National Health Service Yorkhill Hospital, Glasgow, United Kingdom.
  • Chinnery PF; Greater Manchester Neuroscience Centre, Salford Royal National Health Service Foundation Trust, Manchester Academic Health Science Centre, Salford, United Kingdom.
  • Horvath R; Neurogenetics Unit, National Hospital for Neurology and Neurosurgery, London, United Kingdom.
  • Nesbitt V; Department of Clinical Neurosciences, University of Cambridge, Cambridge Biomedical Campus, Cambridge, United Kingdom.
  • Fratter C; MRC Mitochondrial Biology Unit, University of Cambridge, Cambridge, United Kingdom.
  • Poulton J; Wellcome Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne, United Kingdom.
  • Hanna MG; Department of Clinical Neurosciences, University of Cambridge, Cambridge Biomedical Campus, Cambridge, United Kingdom.
  • Pitceathly RDS; Department of Paediatrics, The Children's Hospital, Oxford, United Kingdom.
  • Taylor RW; Oxford Medical Genetics Laboratories, Oxford University Hospitals National Health Service Foundation Trust, Oxford, United Kingdom.
  • Turnbull DM; Nuffield Department of Obstetrics and Gynaecology, University of Oxford, Oxford, United Kingdom.
  • McFarland R; Medical Research Council Centre for Neuromuscular Diseases, University College London Queen Square Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, United Kingdom.
Ann Neurol ; 86(2): 310-315, 2019 08.
Article em En | MEDLINE | ID: mdl-31187502
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Variação Genética / Doenças Mitocondriais / ATPases Mitocondriais Próton-Translocadoras Tipo de estudo: Diagnostic_studies / Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Adolescent / Adult / Aged / Aged80 / Child / Female / Humans / Male / Middle aged País/Região como assunto: Europa Idioma: En Revista: Ann Neurol Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Reino Unido
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Variação Genética / Doenças Mitocondriais / ATPases Mitocondriais Próton-Translocadoras Tipo de estudo: Diagnostic_studies / Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Adolescent / Adult / Aged / Aged80 / Child / Female / Humans / Male / Middle aged País/Região como assunto: Europa Idioma: En Revista: Ann Neurol Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Reino Unido