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J-GLOBAL ID：201902229758540520
整理番号：19A1642645
MT-ATP6における病原性変異体:英国に基づくミトコンドリア病コホート研究【JST・京大機械翻訳】
Pathogenic variants in MT-ATP6: A United Kingdom-based mitochondrial disease cohort study
Ng Yi Shiau
(Wellcome Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne, United Kingdom)
,
Martikainen Mika H.
(Wellcome Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne, United Kingdom)
,
Martikainen Mika H.
(Faculty of Medicine, University of Turku, and Division of Clinical Neurosciences, Turku University Hospital, Turku, Finland)
,
Gorman Grainne S.
(Wellcome Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne, United Kingdom)
,
Blain Alasdair
(Wellcome Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne, United Kingdom)
,
Bugiardini Enrico
(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)
,
Bugiardini Enrico
(Department of Neuromuscular Diseases, University College London Queen Square Institute of Neurology, London, United Kingdom)
,
Bunting Apphia
(Nuffield Department of Obstetrics and Gynaecology, University of Oxford, Oxford, United Kingdom)
,
Schaefer Andrew M.
(Wellcome Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne, United Kingdom)
,
Alston Charlotte L.
(Wellcome Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne, United Kingdom)
,
Blakely Emma L.
(Wellcome Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne, United Kingdom)
,
Sharma Sunil
(Wellcome Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne, United Kingdom)
,
Hughes Imelda
(Royal Manchester Children’s Hospital, Central Manchester University Hospitals National Health Service Foundation Trust, Manchester, United Kingdom)
,
Lim Albert
(Wellcome Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne, United Kingdom)
,
de Goede Christian
(Department of Paediatric Neurology, Royal Preston Hospital, Preston, United Kingdom)
,
McEntagart Meriel
(South West Thames Regional Genetics Service, St. George’s Hospital, London, United Kingdom)
,
Spinty Stefan
(Alder Hey Children’s National Health Service Foundation Trust, Liverpool, United Kingdom)
,
Horrocks Iain
(Greater Glasgow and Clyde National Health Service Yorkhill Hospital, Glasgow, United Kingdom)
,
Roberts Mark
(Greater Manchester Neuroscience Centre, Salford Royal National Health Service Foundation Trust, Manchester Academic Health Science Centre, Salford, United Kingdom)
,
Woodward Cathy E.
(Neurogenetics Unit, National Hospital for Neurology and Neurosurgery, London, United Kingdom)
,
Chinnery Patrick F.
(Department of Clinical Neurosciences, University of Cambridge, Cambridge Biomedical Campus, Cambridge, United Kingdom)
,
Chinnery Patrick F.
(MRC Mitochondrial Biology Unit, University of Cambridge, Cambridge, United Kingdom)
,
Horvath Rita
(Wellcome Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne, United Kingdom)
,
Horvath Rita
(Department of Clinical Neurosciences, University of Cambridge, Cambridge Biomedical Campus, Cambridge, United Kingdom)
,
Nesbitt Victoria
(Department of Paediatrics, The Children’s Hospital, Oxford, United Kingdom)
,
Fratter Carl
(Oxford Medical Genetics Laboratories, Oxford University Hospitals National Health Service Foundation Trust, Oxford, United Kingdom)
,
Poulton Joanna
(Nuffield Department of Obstetrics and Gynaecology, University of Oxford, Oxford, United Kingdom)
,
Hanna Michael G.
(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)
,
Hanna Michael G.
(Department of Neuromuscular Diseases, University College London Queen Square Institute of Neurology, London, United Kingdom)
,
Pitceathly Robert D. S.
(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)
,
Pitceathly Robert D. S.
(Department of Neuromuscular Diseases, University College London Queen Square Institute of Neurology, London, United Kingdom)
,
Taylor Robert W.
(Wellcome Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne, United Kingdom)
,
Turnbull Doug M.
(Wellcome Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne, United Kingdom)
,
McFarland Robert
(Wellcome Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne, United Kingdom)
資料名：
Annals of Neurology
(Annals of Neurology)
巻： 86 号： 2 ページ： 310-315 発行年： 2019年
JST資料番号： T0008A ISSN： 0364-5134 資料種別： 逐次刊行物 (A)
記事区分： 原著論文 発行国： アメリカ合衆国 (USA) 言語： 英語 (EN)
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