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• W2774627973 abstract "Amyotrophic lateral sclerosis (ALS) is a devastating neurological disease, and the etiology of sporadic ALS is generally unknown. The TANK-binding kinase 1 (TBK1) gene was identified as an ALS gene contributing to a predisposition toward ALS. To reveal the frequency and characteristics of variants of the TBK1 gene in sporadic ALS patients in Japan, we analyzed the TBK1 gene by exome sequencing in a large Japanese cohort of 713 sporadic ALS patients and 800 controls. We identified known or potentially toxic rare variants of TBK1 gene in 9 patients (1.26%) with sporadic ALS, including 4 novel missense variants (p.V23I, p.H322R, p.R358C, and p.T478I) and 3 loss-of-function variants (p.R357X, p.P378_I379del, and p.T419_G420del). The odds ratio between sporadic ALS patients and controls was 10.2 (p = 0.008, 95% confidence interval = 1.67–62.47). These findings support the contribution of TBK1 to the etiology of sporadic ALS in Japanese patients." @default.
• W2774627973 created "2017-12-22" @default.
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• W2774627973 date "2018-04-01" @default.
• W2774627973 modified "2023-09-30" @default.
• W2774627973 title "Frequency and characteristics of the TBK1 gene variants in Japanese patients with sporadic amyotrophic lateral sclerosis" @default.
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• W2774627973 doi "https://doi.org/10.1016/j.neurobiolaging.2017.12.005" @default.
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