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浏览/检索结果: 共4条，第1-4条 帮助 已选(0)清除 条数/页：5101520253035404550556065707580859095100   排序方式：请选择发表日期升序发表日期降序作者升序作者降序提交时间升序提交时间降序题名升序题名降序 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 Hereditary ataxia  ADCA  L-type calcium channel  CACNA1C  Mutation   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 Hereditary spastic paraplegias (HSP)  Spastic paraplegia 76(SPG76)  CAPN1 mutations  Ataxia   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 pontocerebellar hypoplasia  TSEN54 mutation  hereditary ataxia   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 Spinocerebellar ataxia type 3/Machado–Joseph disease  Hereditary spastic paraplegia  MJD1  Spasticity  Ataxia