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Mutations of the mitochondrial carrier translocase channel subunit TIM22 cause early-onset mitochondrial myopathy

Journal Article published 4 Sep 2018 in Human Molecular Genetics

Research funded by Lavin Family Foundation (NIHU01 HG006476, U54GM114833) | Newcastle upon Tyne Hospitals NHS Foundation Trust | Institute of Clinical and Translational Sciences (5 UL1 TR001114) | Association for Molecular Pathology | H2020 European Research Council (ERC335080) | National Institutes of Health | Instituto de Salud Carlos III (PI17/00021, PI/00166) | Mitochondrial Research Guild (203105/Z/16/Z) | Scripps Research Institute | National Center for Advancing Translational Sciences | Max-Planck-Gesellschaft | Asociación de Enfermos con Patología Mitocondrial | Medical Research Council (G0800674) | Deutsche Forschungsgemeinschaft (SFB1190) | Fundacja na rzecz Nauki Polskiej | National Institute on Handicapped Research | Lily Mae Foundation | Engineering and Physical Sciences Research Council | Anne and Harry Zarrow Foundation | Departamento de Ciencia, Tecnología y Universidad del Gobierno de Aragón (B33 17R) | Shaffer Family Foundation | Biomedical Research Foundation

Authors: David Pacheu-Grau, Sylvie Callegari, Sonia Emperador, Kyle Thompson, Abhishek Aich, Sarah E Topol, Emily G Spencer, Robert McFarland, Eduardo Ruiz-Pesini, Ali Torkamani, Robert W Taylor, Julio Montoya, Peter Rehling