神经元蜡样质脂褐素沉积症致病基因TPP1不同突变的致病性及其与表型的关系
81870903
2018
H0901.神经系统发育与代谢异常
易咏红
面上项目
教授
广州医科大学
56万元
表型;致病性;突变;三肽酰肽酶1;神经退行性病变
2019-01-01到2022-12-31
- 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 | PRRT2 gene mutations associated with infantile convulsions induced by sucking and the genotype-phenotype correlation | 期刊论文 | De-Tian Liu;Xue-Qing Tang;Rui-Ping Wan;Sheng Luo;Bao-Zhu Guan;Bin Li;Li-Hong Liu;Bing-Mei Li;Zhi-Gang Liu;Long-Shan Xie;Yong-Hong Yi |
| 2 | DEPDC5Variants Associated Malformations of Cortical Development and Focal Epilepsy With Febrile Seizure Plus/Febrile Seizures: The Role of Molecular Sub-Regional Effect | 期刊论文 | Liu Liu;Chen Zi-Rong;Xu Hai-Qing;Liu De-Tian;Mao Yong;Liu Han-Kui;Liu Xiao-Rong;Zhou Peng;Lin Si-Mei;Li Bin;He Na;Su Tao;Zhai Qiong-Xiang;Meng Heng;Liao Wei-Ping;Yi Yong-Hong |
| 3 | SHROOM4 Variants Are Associated With X-Linked Epilepsy With Features of Generalized Seizures or Generalized Discharges | 期刊论文 | Wen-Jun Bian;Zong-Jun Li;Jie Wang;Sheng Luo;Bing-Mei Li;Liang-Di Gao;Na He;Yong-Hong Yi |
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