Molecular epidemiological study of familial amyotrophic lateral sclerosis in Japanese population by whole-exome sequencing and identification of novel HNRNPA1 mutation.

doi:10.1016/j.neurobiolaging.2017.08.030

Article

Molecular epidemiological study of familial amyotrophic lateral sclerosis in Japanese population by whole-exome sequencing and identification of novel HNRNPA1 mutation.

Neurobiology of aging - 1 Jan 2018

Naruse Hiroya, Ishiura Hiroyuki, Mitsui Jun, Date Hidetoshi, Takahashi Yuji, Matsukawa Takashi, Tanaka Masaki, Ishii Akiko, Tamaoka Akira, Hokkoku Keiichi, Sonoo Masahiro, Segawa Mari, Ugawa Yoshikazu, Doi Koichiro, Yoshimura Jun, Morishita Shinichi, Goto Jun, Tsuji Shoji

Abstract excerpt

To elucidate the genetic epidemiology of familial amyotrophic lateral sclerosis (FALS) in the Japanese population, we conducted whole-exome sequencing analysis of 30 FALS families in whom causative mutations have not been identified in previous studies. Consequently, whole-exome sequencing analysis revealed novel mutations in HNRNPA1, TBK1, and VCP. Taken together with our previous results of mutational analyses...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Molecular epidemiological study of familial amyotrophic lateral sclerosis in Japanese population by whole-exome sequencing and identification of novel HNRNPA1 mutation.

Abstract excerpt

Topics

Related research