Article
ERBB4 mutations that disrupt the neuregulin-ErbB4 pathway cause amyotrophic lateral sclerosis type 19.
American journal of human genetics - 7 Nov 2013
Takahashi Yuji, Fukuda Yoko, Yoshimura Jun, Toyoda Atsushi, Kurppa Kari, Moritoyo Hiroyoko, Belzil Veronique V, Dion Patrick A, Higasa Koichiro, Doi Koichiro, Ishiura Hiroyuki, Mitsui Jun, Date Hidetoshi, Ahsan Budrul, Matsukawa Takashi, Ichikawa Yaeko, Moritoyo Takashi, Ikoma Mayumi, Hashimoto Tsukasa, Kimura Fumiharu, Murayama Shigeo, Onodera Osamu, Nishizawa Masatoyo, Yoshida Mari, Atsuta Naoki, Sobue Gen, Fifita Jennifer A, Williams Kelly L, Blair Ian P, Nicholson Garth A, Gonzalez-Perez Paloma, Brown Robert H, Nomoto Masahiro, Elenius Klaus, Rouleau Guy A, Fujiyama Asao, Morishita Shinichi, Goto Jun, Tsuji Shoji
Abstract excerpt
Amyotrophic lateral sclerosis (ALS) is a devastating neurological disorder characterized by the degeneration of motor neurons and typically results in death within 3-5 years from onset. Familial ALS (FALS) comprises 5%-10% of ALS cases, and the identification of genes associated with FALS is indispensable to elucidating the molecular pathogenesis. We identified a Japanese family affected by late-onset,...
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