PRRT2介导的钠离子通道Nav1.2功能障碍在发作性动作诱发性运动障碍发病中的作用研究
序号 | 标题 | 类型 | 作者 |
---|---|---|---|
1 | 脑组织铁沉积性神经变性病遗传学研究进展 | 期刊论文 | 黄啸君;曹立 |
2 | Primary familial brain calcification presenting as paroxysmal kinesigenic dyskinesia: Genetic and functional analyses. | 期刊论文 | Zhan FX;Tian WT;Zhang C;Zhu ZY;Wang SG;Huang XJ;Cao L |
3 | Progressive myoclonus epilepsy without renal failure in a Chinese family with a novel mutation in SCARB2 gene and literature | 期刊论文 | Tian Wo Tu;Liu Xiao Li;Xu Yang Qi;Huang Xiao Jun;Zhou Hai Yan;Wang Ying;Tang Hui Dong;Chen Sheng Di;Luan Xing Hua;Cao Li |
4 | Congenital disorder of glycosylation type 1T with a novel truncated homozygous mutation in PGM1 gene and literature review | 期刊论文 | Tian Wo Tu;Luan Xing Hua;Zhou Hai Yan;Zhang Chao;Huang Xiao Jun;Liu Xiao Li;Chen Sheng Di;Tang Hui Dong;Cao Li |
5 | 脂肪酸羟化酶相关性神经变性病四例临床表型及基因突变分析 | 期刊论文 | 黄啸君;刘晓黎;王田;沈隽逸;陈生弟;唐维国;曹立 |
6 | Depression, anxiety, and quality of life in paroxysmal kinesigenic dyskinesia patients | 期刊论文 | Tian Wo Tu;Huang Xiao Jun;Liu Xiao Li;Shen Jun Yi;Liang Gui Ling;Zhu Chen Xi;Tang Wei Guo;Chen Sheng Di;Song Yan Yan;Cao Li |
7 | Proline-Rich Transmembrane Protein 2-Negative Paroxysmal Kinesigenic Dyskinesia: Clinical and Genetic Analyses of 163 Patients | 期刊论文 | Tian Wo Tu;Huang Xiao Jun;Mao Xiao;Liu Qing;Liu Xiao Li;Zeng Sheng;Guo Xia Nan;Shen Jun Yi;Xu Yang Qi;Tang Hui Dong;Yin Xiao Meng;Zhang Mei;Tang Wei Guo;Liu Xiao Rong;Tang Bei Sha;Chen Sheng Di;Cao Li |
8 | 发作性运动诱发性运动障碍临床表型分析 | 期刊论文 | 田沃土;黄啸君;沈隽逸;徐洋奇;陈生弟;曹立 |
9 | 中国发作性运动诱发性运动障碍患者社会心理学调查研究 | 期刊论文 | 田沃土;黄啸君;梁桂玲;朱晨曦;沈颖;方钰;陈睦涵;沈隽逸;陈生弟;曹立 |