A novel missense mutation in CCDC88C activates the JNK pathway and causes a dominant form of spinocerebellar ataxia

Por Tsoi, Ho, Yu, Allen C S, Chen, Zhefan S, Ng, Nelson K N, Chan, Anne Y Y, Yuen, Liz Y P, Abrigo, Jill M, Tsang, Suk Ying, Tsui, Stephen K W, Tong, Tony M F, Lo, Ivan F M, Lam, Stephen T S, Mok, Vincent C T, Wong, Lawrence K S, Ngo, Jacky C K, Lau, Kwok-Fai, Chan, Ting-Fung, Chan, H Y Edwin
Publicado em 2014