神经递质释放在PRRT2相关疾病发病机制中的作用研究
81571086
2015
H0904.运动障碍性疾病
曹立
面上项目
主任医师
上海交通大学
57万元
PRRT2相关疾病;电压门控钙通道;神经递质;富含脯氨酸跨膜蛋白2
2016-01-01到2019-12-31
- 中英文摘要
- 结题摘要
- 结题报告
- 项目成果
- 项目参与人
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| 序号 | 标题 | 类型 | 作者 |
|---|---|---|---|
| 1 | Novel Mutations in SCN4A Gene Cause Myotonia Congenita with Scoliosis | 期刊论文 | Xu Yang Qi;Liu Xiao Li;Huang Xiao Jun;Tian Wo Tu;Tang Hui Dong;Cao Li |
| 2 | 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 |
| 3 | 发作性过度运动诱发性运动障碍家系报道及突变分析 | 期刊论文 | 田沃土;曹立 |
| 4 | 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 |
| 5 | 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 |
| 6 | Clinicopathologic characterization and abnormal autophagy of CSF1R-related leukoencephalopathy | 期刊论文 | Wotu Tian;Feixia Zhan;Qing Liu;Xinghua Luan;Chao Zhang;Shang Liang;Benyan Zhang;Sijian Pan;Fei Miao;Jiong Hu;Ping Zhong;Shihua Liu;Zeyu Zhu;Haiyan Zhou;Suya Sun;Xiaoli Liu;Xiaojun Huang;Jingwen Jiang;Jianfang Ma;Ying Wang;Shufen Chen;Huidong Tang;Shengdi Chen;Li Cao |
| 7 | 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 |
| 8 | 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 |
| 9 | Infantile spinal muscular atrophy with respiratory distress type I presenting without respiratory involvement: Novel mutations and review of the literature | 期刊论文 | Luan XH;Huang XJ;Liu XL;Zhou HY;Chen SD;Cao L |
| 10 | Primary familial brain calcification presenting as paroxysmal kinesigenic dyskinesia | 期刊论文 | Feixia Zhan;Wotu Tian;Chao Zhang;Zeyu Zhu;Shige Wang;Xiaojun Huang;Li Cao |
| 11 | Ataxia with novel compound heterozygous PEX10 mutations and a literature review of PEX10-related peroxisome biogenesis disorders | 期刊论文 | Zhang Chao;Zhan Fei Xia;Tian Wo Tu;Xu Yang Qi;Zhu Ze Yu;Wang Yan;Song Xing wang;Cao Li |
| 12 | The study of exercise tests in paroxysmal kinesigenic dyskinesia | 期刊论文 | Zhou Hai Yan;Zhan Fei Xia;Tian Wo Tu;Zhang Chao;Wang Yan;Zhu Ze Yu;Liu Xiao Li;Xu Yang Qi;Luan Xing Hua;Huang Xiao Jun;Chen Sheng Di;Cao Li |
| 13 | Teaching Video NeuroImages: Cautious walking gait in siblings with hereditary hyperekplexia | 期刊论文 | Chao Zhang;Shige Wang;Yan Wang;Xiaoli Liu;Li Cao |
| 14 | Familial paroxysmal kinesigenic dyskinesia is associated with mutations in the KCNA1 gene | 期刊论文 | Yin Xiao-Meng;Lin Jing-Han;Cao Li;Zhang Tong-Mei;Zeng Sheng;Zhang Kai-Lin;Tian Wo-Tu;Hu Zheng-Mao;Li Nan;Wang Jun-Ling;Guo Ji-Feng;Wang Ruo-Xi;Xia Kun;Zhang Zhuo-Hua;Yin Fei;Peng Jing;Liao Wei-Ping;Yi Yong-Hong;Liu Jing-Yu;Yang Zhi-Xian;Chen Zhong;Mao Xiao;Yan Xin-Xiang;Jiang Hong;Shen Lu;Chen Sheng-Di;Zhang Li-Ming;Tang Bei-Sha |
| 15 | Lysosomal degradation of GMPPB is associated with limb-girdle muscular dystrophy type 2T | 期刊论文 | Wotu Tian;Haiyan Zhou;Feixia Zhan;Zeyu Zhu;Jie Yang;Shengdi Chen;Xinghua luan;Li Cao |
| 16 | Limb-girdle congenital myasthenic syndrome in a Chinese family with novel mutations in MUSK gene and literature review. | 期刊论文 | Luan X;Tian W;Cao L |
| 17 | 神经系统发作性疾病的脑磁图研究进展 | 期刊论文 | 詹飞霞;曹春燕;曹立 |
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