Identification of a pathogenic intronic KIF5A mutation in an ALS-FTD kindred.
作者信息
Saez-Atienzar Sara, Dalgard Clifton L, Ding Jinhui, Chiò Adriano, Alba Camile, Hupalo Dan N, Wilkerson Matthew D, Bowser Robert, Pioro Erik P, Bedlack Richard, Traynor Bryan J
机构信息
From the Neuromuscular Diseases Research Section (S.S-A, B.J.T.), Laboratory of Neurogenetics, NIA, NIH; Department of Anatomy (C.L.D.), Physiology & Genetics, Uniformed Services University of the Health Sciences; The American Genome Center (C.L.D., C.A., D.N.H., M.D.W.), Collaborative Health Initiative Research Program, Uniformed Services University of the Health Sciences; Computational Biology Core (J.D.), Laboratory of Neurogenetics, NIA, NIH, Bethesda, MD; Rita Levi Montalcini Department of Neuroscience (A.C.), University of Turin, Italy and AOU Città della Salute e della Scienza, Turin, Italy; Division of Neurology and Neurobiology (R. Bowser), Barrow Neurological Institute, Phoenix, AZ; Department of Neurology (E.P.P.), Neuromuscular Center, Neurological Institute, Cleveland Clinic, OH; Department of Neurology (R. Bedlack), Duke University and the Durham VA Medical Center, NC; and Department of Neurology (B.J.T.), Johns Hopkins University, Baltimore, MD.
出版信息
Neurology. 2020 Dec 1;95(22):1015-1018. doi: 10.1212/WNL.0000000000011064. Epub 2020 Oct 19.
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