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浏览/检索结果: 共5条，第1-5条 帮助 限定条件 发表日期：2013    专题：中南大学    第一署名单位    第一作者单位    通讯作者单位     已选(0)清除 条数/页：5101520253035404550556065707580859095100   排序方式：请选择作者升序作者降序题名升序题名降序发表日期升序发表日期降序提交时间升序提交时间降序 Mutation analysis of PRRT2 in two Chinese BFIS families and nomenclature of PRRT2 related paroxysmal diseases 期刊论文 Neuroscience letters, 2013, 卷号: 552, 页码: 40-45 作者:  Jun-Ling Wang;  Xiao Mao;  Zheng-Mao Hu;  Jia-Da Li;  Nan Li 收藏  |  浏览/下载：12/0  |  提交时间：2019/12/03 BFIS  DNA  ICCA  Linkage analysis  PED  PKD  PNKD  PRRT2  Paroxysmal diseases  PxDs  benign familial infantile seizures  deoxyribonucleic acid  infantile convulsions and choreoathetosis  paroxysmal dyskinesis  paroxysmal exercise-induced dyskinesia  paroxysmal kinesigenic dyskinesias  paroxysmal non-kinesigenic dyskinesia  proline-rich transmembrane protein 2   Using next-generation sequencing as a genetic diagnostic tool in rare autosomal recessive neurologic Mendelian disorders 期刊论文 Neurobiology of Aging, 2013, 卷号: 34, 期号: 10, 页码: 2442.e11-2442.e17 作者:  Chen, Zhao;  Wang, Jun-ling;  Tang, Bei-sha;  Sun, Zhan-fang;  Shi, Yu-ting 收藏  |  浏览/下载：14/0  |  提交时间：2019/12/03 Targeted gene sequencing  Exome sequencing  Autosomal recessive  Neurologic Mendelian disorders  Genetic diagnostic strategy   SUMO-1 Modification on K166 of PolyQ-Expanded aTaxin-3 Strengthens Its Stability and Increases Its Cytotoxicity 期刊论文 PLOS ONE, 2013, 卷号: 8, 期号: 1, 页码: e54214 作者:  Zhou, Ya-Fang;  Liao, Shu-Sheng;  Luo, Ying-Ying;  Tang, Jian-Guang;  Wang, Jun-Ling 收藏  |  浏览/下载：5/0  |  提交时间：2019/12/03 SUMOylation,Immunoprecipitation,Lysine,Transfection,Ubiquitination,Subcellular localization,Apoptosis,Pathogenesis   Spinocerebellar ataxia type 35 (SCA35)-associated transglutaminase 6 mutants sensitize cells to apoptosis 期刊论文 Biochemical and Biophysical Research Communications, 2013, 卷号: 430, 期号: 2, 页码: 780-786 作者:  Guan, Wen-Juan;  Wang, Jun-Ling;  Liu, Yu-Tao;  Ma, Yan-Tao;  Zhou, Ying 收藏  |  浏览/下载：6/0  |  提交时间：2019/12/03 Apoptosis  Spinocerebellar ataxia 35 (SCA35)  Transglutaminase 6 (TG6)   C9orf72 mutation is rare in Alzheimer's disease, Parkinson's disease, and essential tremor in China 期刊论文 FRONTIERS IN CELLULAR NEUROSCIENCE, 2013, 卷号: 7, 期号: SEP, 页码: 164 作者:  Jiao, Bin;  Guo, Ji-feng;  Wang, Ya-qin;  Yan, Xin-xiang;  Zhou, Lin 收藏  |  浏览/下载：5/0  |  提交时间：2019/12/03 Alzheimer's disease  C9orf72  Parkinson's disease  essential tremor  risk factor