Article
Frequency and characteristics of the TBK1 gene variants in Japanese patients with sporadic amyotrophic lateral sclerosis.
Neurobiology of aging - 1 Apr 2018
Tohnai Genki, Nakamura Ryoichi, Sone Jun, Nakatochi Masahiro, Yokoi Daichi, Katsuno Masahisa, Watanabe Hazuki, Watanabe Hirohisa, Ito Mizuki, Li Yuanzhe, Izumi Yuishin, Morita Mitsuya, Taniguchi Akira, Kano Osamu, Oda Masaya, Kuwabara Satoshi, Abe Koji, Aiba Ikuko, Okamoto Koichi, Mizoguchi Kouichi, Hasegawa Kazuko, Aoki Masashi, Hattori Nobutaka, Onodera Osamu, Naruse Hiroya, Mitsui Jun, Takahashi Yuji, Goto Jun, Ishiura Hiroyuki, Morishita Shinichi, Yoshimura Jun, Doi Koichiro, Tsuji Shoji, Nakashima Kenji, Kaji Ryuji, Atsuta Naoki, Sobue Gen
Abstract excerpt
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...
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