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ALS-associated missense and nonsense TBK1 mutations can both cause loss of kinase function.

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第一作者: Martina,de Majo
第一单位: United Kingdom Dementia Research Institute, Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK.
作者单位: United Kingdom Dementia Research Institute, Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK. [1] Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands. [2] Department of Genome analysis, University of Amsterdam, Academic Medical Centre, Amsterdam, The Netherlands. [3] Department of Neurology, University of Massachusetts Medical School, Worcester, MA. [4] Department of Neurology and Laboratory of Neuroscience, IRCCS Istituto Auxologico Italiano, Milan, Italy; Department of Pathophysiology and Transplantation, 'Dino Ferrari' Centre, Università degli Studi di Milano, Milan, Italy. [5] Unidad de ELA, Instituto de Investigación Hospital 12 de Octubre de Madrid, SERMAS, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER U-723), Madrid, Spain. [6] Department of Biomedical Sciences, Humanitas University, Rozzano-Milan, Italy; Humanitas Clinical and Research Center, Rozzano-Milan, Italy. [7] University of Southampton, Southampton General Hospital, UK. [8] Sheffield Institute for Translational Neuroscience, University of Sheffield, Sheffield, UK. [9] Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK. [10] Academic Unit of Neurology, Trinity Biomedical Sciences Institute, Trinity College Dublin, Dublin, Republic of Ireland. [11] Department of Neurology, Center for Neurodegenerative Disease, Emory University School of Medicine, Atlanta, GA, USA. [12] Neurogenetics Group, Division of Brain Sciences, Imperial College London, Hammersmith Hospital Campus, London, UK. [13] Unit of Genetics of Neurodegenerative and Metabolic Diseases, Fondazione IRCCS Istituto Neurologico 'Carlo Besta', Milan, Italy. [14] United Kingdom Dementia Research Institute, Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK. Electronic address: chris.shaw@kcl.ac.uk. [15]
DOI 10.1016/j.neurobiolaging.2018.06.015
PMID 30033073
发布时间 2025-05-30
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Neurobiology of aging

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