Article
Identification of CHIP as a novel causative gene for autosomal recessive cerebellar ataxia.
PloS one - 1 Jan 2013
Shi Yuting, Wang Junling, Li Jia-Da, Ren Haigang, Guan Wenjuan, He Miao, Yan Weiqian, Zhou Ying, Hu Zhengmao, Zhang Jianguo, Xiao Jingjing, Su Zheng, Dai Meizhi, Wang Jun, Jiang Hong, Guo Jifeng, Zhou Yafang, Zhang Fufeng, Li Nan, Du Juan, Xu Qian, Hu Yacen, Pan Qian, Shen Lu, Wang Guanghui, Xia Kun, Zhang Zhuohua, Tang Beisha
Abstract excerpt
Autosomal recessive cerebellar ataxias are a group of neurodegenerative disorders that are characterized by complex clinical and genetic heterogeneity. Although more than 20 disease-causing genes have been identified, many patients are still currently without a molecular diagnosis. In a two-gener...
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