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CORC

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Identification of a novel mutation in the CACNA1C gene in a Chinese family with autosomal dominant cerebellar ataxia 期刊论文
BMC NEUROLOGY, 2019, 卷号: 19
作者:  Chen, Jiajun;  Sun, Yajuan;  Liu, Xiaoyang;  Li, Jia
收藏  |  浏览/下载：32/0  |  提交时间：2019/12/05
Two novel homozygous mutations of CAPN1 in Chinese patients with hereditary spastic paraplegia and literatures review 期刊论文
ORPHANET JOURNAL OF RARE DISEASES, 2019, 卷号: 14
作者:  Peng, Fang;  Sun, Yi-Min;  Quan, Chao;  Wang, Jian;  Wu, Jian-Jun
收藏  |  浏览/下载：10/0  |  提交时间：2019/12/05
Identification of IFRD1 variant in a Han Chinese family with autosomal dominant hereditary spastic paraplegia associated with peripheral neuropathy and ataxia 期刊论文
JOURNAL OF HUMAN GENETICS, 2018, 卷号: 63, 期号: 4, 页码: 521-524
作者:  Lin, Pengfei;  Zhang, Dong;  Xu, Guangrun;  Yan, Chuanzhu
收藏  |  浏览/下载：3/0  |  提交时间：2019/12/11
A familial late-onset hereditary ataxia mimicking pontocerebellar hypoplasia caused by a novel TSEN54 mutation 期刊论文
MOLECULAR MEDICINE REPORTS, 2014, 卷号: 10, 期号: 3
作者:  Qian, Yi;  Wang, Haiyong;  Jin, Tao;  Wang, Yiqing;  Fang, Lizheng
收藏  |  浏览/下载：3/0  |  提交时间：2019/12/19
Spectrin: Structure, function and disease 期刊论文
SCIENCE CHINA-LIFE SCIENCES, 2013
作者:  Zhang Rui;  Zhang ChenYu;  Zhao Qi;  Li DongHai
收藏  |  浏览/下载：9/0  |  提交时间：2015/08/28
A Drosophila model of the neurodegenerative disease SCA17 reveals a role of RBP-J/Su(H) in modulating the pathological outcome 期刊论文
human molecular genetics, 2011
Ren, Jie; Jegga, Anil G.; Zhang, Minlu; Deng, Jingyuan; Liu, Junbo; Gordon, Christopher B.; Aronow, Bruce J.; Lu, Long J.; Zhang, Bo; Ma, Jun
收藏  |  浏览/下载：10/0  |  提交时间：2015/11/13
Six cases of SCA3/MJD patients that mimic hereditary spastic paraplegia in clinic 期刊论文
Journal of the Neurological Sciences, 2009, 卷号: 285, 期号: 1-2, 页码: 121-124
作者:  Wang, Yin-guang;  Du, Juan;  Wang, Jun-ling;  Chen, Juan;  Chen, Chong
收藏  |  浏览/下载：2/0  |  提交时间：2019/12/03

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