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- [41] A common PRRT2 mutation in familial paroxysmal kinesigenic dyskinesia in Hong Kong: a case series of 16 patientsHONG KONG MEDICAL JOURNAL, 2016, 22 (06) : 619 - 622Law, C. Y.论文数: 0 引用数: 0 h-index: 0机构: Univ Hong Kong, Dept Pathol, Pokfulam, Hong Kong, Peoples R China Univ Hong Kong, Dept Pathol, Pokfulam, Hong Kong, Peoples R ChinaYeung, W. L.论文数: 0 引用数: 0 h-index: 0机构: Alice Ho Miu Ling Nethersole Hosp, Dept Paediat & Adolescent Med, Tai Po, Hong Kong, Peoples R China Univ Hong Kong, Dept Pathol, Pokfulam, Hong Kong, Peoples R ChinaCheung, Y. F.论文数: 0 引用数: 0 h-index: 0机构: Queen Elizabeth Hosp, Dept Med, Div Neurol, Jordan, Hong Kong, Peoples R China Univ Hong Kong, Dept Pathol, Pokfulam, Hong Kong, Peoples R ChinaChan, H. F.论文数: 0 引用数: 0 h-index: 0机构: Queen Elizabeth Hosp, Dept Med, Div Neurol, Jordan, Hong Kong, Peoples R China Univ Hong Kong, Dept Pathol, Pokfulam, Hong Kong, Peoples R ChinaFung, Eva论文数: 0 引用数: 0 h-index: 0机构: Prince Wales Hosp, Dept Paediat, Shatin, Hong Kong, Peoples R China Univ Hong Kong, Dept Pathol, Pokfulam, Hong Kong, Peoples R ChinaHui, Joannie论文数: 0 引用数: 0 h-index: 0机构: Prince Wales Hosp, Dept Paediat, Shatin, Hong Kong, Peoples R China Univ Hong Kong, Dept Pathol, Pokfulam, Hong Kong, Peoples R ChinaYung, Iris O. K.论文数: 0 引用数: 0 h-index: 0机构: Prince Wales Hosp, Dept Med & Therapeut, Div Neurol, Shatin, Hong Kong, Peoples R China Univ Hong Kong, Dept Pathol, Pokfulam, Hong Kong, Peoples R ChinaYuen, Y. P.论文数: 0 引用数: 0 h-index: 0机构: Prince Wales Hosp, Dept Chem Pathol, Shatin, Hong Kong, Peoples R China Univ Hong Kong, Dept Pathol, Pokfulam, Hong Kong, Peoples R ChinaChan, Angel O. K.论文数: 0 引用数: 0 h-index: 0机构: Queen Mary Hosp, Div Clin Biochem, Pokfulam, Hong Kong, Peoples R China Univ Hong Kong, Dept Pathol, Pokfulam, Hong Kong, Peoples R ChinaLam, C. W.论文数: 0 引用数: 0 h-index: 0机构: Univ Hong Kong, Dept Pathol, Pokfulam, Hong Kong, Peoples R China Univ Hong Kong, Dept Pathol, Pokfulam, Hong Kong, Peoples R China
- [42] PRRT2 deficiency induces paroxysmal kinesigenic dyskinesia by regulating synaptic transmission in cerebellumCELL RESEARCH, 2018, 28 (01) : 90 - 110Tan, Guo-He论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Sci, Shanghai Inst Biol Sci, Inst Neurosci, Shanghai 200031, Peoples R China Chinese Acad Sci, Shanghai Inst Biol Sci, State Key Lab Neurosci, CAS Ctr Excellence Brain Sci & Intelligence Techn, Shanghai 200031, Peoples R China Guangxi Med Univ, Guangxi Key Lab Regenerat Med, Dept Human Anat, Nanning 530021, Guangxi, Peoples R China Guangxi Med Univ, Guangxi Collaborat Innovat Ctr Biomed, Nanning 530021, Guangxi, Peoples R China Chinese Acad Sci, Shanghai Inst Biol Sci, Inst Neurosci, Shanghai 200031, Peoples R ChinaLiu, Yuan-Yuan论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Sci, Shanghai Inst Biol Sci, Inst Neurosci, Shanghai 200031, Peoples R China Chinese Acad Sci, Shanghai Inst Biol Sci, State Key Lab Neurosci, CAS Ctr Excellence Brain Sci & Intelligence Techn, Shanghai 200031, Peoples R China Chinese Acad Sci, Shanghai Inst Biol Sci, Inst Neurosci, Shanghai 200031, Peoples R ChinaWang, Lu论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Sci, Shanghai Inst Biol Sci, Inst Neurosci, Shanghai 200031, Peoples R China Chinese Acad Sci, Shanghai Inst Biol Sci, State Key Lab Neurosci, CAS Ctr Excellence Brain Sci & Intelligence Techn, Shanghai 200031, Peoples R China Chinese Acad Sci, Shanghai Inst Biol Sci, Inst Neurosci, Shanghai 200031, Peoples R ChinaLi, Kui论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Sci, Shanghai Inst Biol Sci, Inst Neurosci, Shanghai 200031, Peoples R China Chinese Acad Sci, Shanghai Inst Biol Sci, State Key Lab Neurosci, CAS Ctr Excellence Brain Sci & Intelligence Techn, Shanghai 200031, Peoples R China Chinese Acad Sci, Shanghai Inst Biol Sci, Inst Neurosci, Shanghai 200031, Peoples R ChinaZhang, Ze-Qiang论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Sci, Shanghai Inst Biol Sci, Inst Neurosci, Shanghai 200031, Peoples R China Chinese Acad Sci, Shanghai Inst Biol Sci, State Key Lab Neurosci, CAS Ctr Excellence Brain Sci & Intelligence Techn, Shanghai 200031, Peoples R China Univ Chinese Acad Sci, Beijing 100049, Peoples R China Chinese Acad Sci, Shanghai Inst Biol Sci, Inst Neurosci, Shanghai 200031, Peoples R ChinaLi, Hong-Fu论文数: 0 引用数: 0 h-index: 0机构: Zhejiang Univ, Sch Med, Affiliated Hosp 2, Dept Neurol, Hangzhou 310009, Zhejiang, Peoples R China Zhejiang Univ, Sch Med, Affiliated Hosp 2, Res Ctr Neurol, Hangzhou 310009, Zhejiang, Peoples R China Chinese Acad Sci, Shanghai Inst Biol Sci, Inst Neurosci, Shanghai 200031, Peoples R ChinaYang, Zhong-Fei论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Sci, Shanghai Inst Biol Sci, Inst Neurosci, Shanghai 200031, Peoples R China Chinese Acad Sci, Shanghai Inst Biol Sci, State Key Lab Neurosci, CAS Ctr Excellence Brain Sci & Intelligence Techn, Shanghai 200031, Peoples R China Chinese Acad Sci, Shanghai Inst Biol Sci, Inst Neurosci, Shanghai 200031, Peoples R ChinaLi, Yang论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Sci, Shanghai Inst Biol Sci, Inst Neurosci, Shanghai 200031, Peoples R China Chinese Acad Sci, Shanghai Inst Biol Sci, State Key Lab Neurosci, CAS Ctr Excellence Brain Sci & Intelligence Techn, Shanghai 200031, Peoples R China Chinese Acad Sci, Shanghai Inst Biol Sci, Inst Neurosci, Shanghai 200031, Peoples R ChinaLi, Dan论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Sci, Shanghai Inst Biol Sci, Inst Neurosci, Shanghai 200031, Peoples R China Chinese Acad Sci, Shanghai Inst Biol Sci, State Key Lab Neurosci, CAS Ctr Excellence Brain Sci & Intelligence Techn, Shanghai 200031, Peoples R China Chinese Acad Sci, Shanghai Inst Biol Sci, Inst Neurosci, Shanghai 200031, Peoples R ChinaWu, Ming-Yue论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Sci, Shanghai Inst Biol Sci, Inst Neurosci, Shanghai 200031, Peoples R China Chinese Acad Sci, Shanghai Inst Biol Sci, State Key Lab Neurosci, CAS Ctr Excellence Brain Sci & Intelligence Techn, Shanghai 200031, Peoples R China Chinese Acad Sci, Shanghai Inst Biol Sci, Inst Neurosci, Shanghai 200031, Peoples R ChinaYu, Chun-Lei论文数: 0 引用数: 0 h-index: 0机构: East China Normal Univ, Shanghai Key Lab Regulatory Biol, Sch Life Sci, Shanghai 200241, Peoples R China Chinese Acad Sci, Shanghai Inst Biol Sci, Inst Neurosci, Shanghai 200031, Peoples R ChinaLong, Juan-Juan论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Sci, Shanghai Inst Biol Sci, Inst Biochem & Cell Biol, Shanghai 200031, Peoples R China Chinese Acad Sci, Shanghai Inst Biol Sci, Inst Neurosci, Shanghai 200031, Peoples R ChinaChen, Ren-Chao论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Sci, Shanghai Inst Biol Sci, Inst Neurosci, Shanghai 200031, Peoples R China Chinese Acad Sci, Shanghai Inst Biol Sci, State Key Lab Neurosci, CAS Ctr Excellence Brain Sci & Intelligence Techn, Shanghai 200031, Peoples R China Chinese Acad Sci, Shanghai Inst Biol Sci, Inst Neurosci, Shanghai 200031, Peoples R ChinaLi, Li-Xi论文数: 0 引用数: 0 h-index: 0机构: Zhejiang Univ, Sch Med, Affiliated Hosp 2, Dept Neurol, Hangzhou 310009, Zhejiang, Peoples R China Zhejiang Univ, Sch Med, Affiliated Hosp 2, Res Ctr Neurol, Hangzhou 310009, Zhejiang, Peoples R China Chinese Acad Sci, Shanghai Inst Biol Sci, Inst Neurosci, Shanghai 200031, Peoples R ChinaYin, Lu-Ping论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Sci, Shanghai Inst Biol Sci, Inst Neurosci, Shanghai 200031, Peoples R China Chinese Acad Sci, Shanghai Inst Biol Sci, State Key Lab Neurosci, CAS Ctr Excellence Brain Sci & Intelligence Techn, Shanghai 200031, Peoples R China Chinese Acad Sci, Shanghai Inst Biol Sci, Inst Neurosci, Shanghai 200031, Peoples R ChinaLiu, Ji-Wei论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Sci, Shanghai Inst Biol Sci, Inst Neurosci, Shanghai 200031, Peoples R China Chinese Acad Sci, Shanghai Inst Biol Sci, State Key Lab Neurosci, CAS Ctr Excellence Brain Sci & Intelligence Techn, Shanghai 200031, Peoples R China Chinese Acad Sci, Shanghai Inst Biol Sci, Inst Neurosci, Shanghai 200031, Peoples R ChinaCheng, Xue-Wen论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Sci, Shanghai Inst Biol Sci, Inst Neurosci, Shanghai 200031, Peoples R China Chinese Acad Sci, Shanghai Inst Biol Sci, State Key Lab Neurosci, CAS Ctr Excellence Brain Sci & Intelligence Techn, Shanghai 200031, Peoples R China Chinese Acad Sci, Shanghai Inst Biol Sci, Inst Neurosci, Shanghai 200031, Peoples R ChinaShen, Qi论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Sci, Shanghai Inst Biol Sci, Inst Neurosci, Shanghai 200031, Peoples R China Chinese Acad Sci, Shanghai Inst Biol Sci, State Key Lab Neurosci, CAS Ctr Excellence Brain Sci & Intelligence Techn, Shanghai 200031, Peoples R China Chinese Acad Sci, Shanghai Inst Biol Sci, Inst Neurosci, Shanghai 200031, Peoples R ChinaShu, You-Sheng论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Sci, Shanghai Inst Biol Sci, Inst Neurosci, Shanghai 200031, Peoples R China Chinese Acad Sci, Shanghai Inst Biol Sci, State Key Lab Neurosci, CAS Ctr Excellence Brain Sci & Intelligence Techn, Shanghai 200031, Peoples R China Chinese Acad Sci, Shanghai Inst Biol Sci, Inst Neurosci, Shanghai 200031, Peoples R ChinaSakimura, Kenji论文数: 0 引用数: 0 h-index: 0机构: Niigata Univ, Brain Res Inst, Dept Cellular Neurobiol, Niigata 9518585, Japan Chinese Acad Sci, Shanghai Inst Biol Sci, Inst Neurosci, Shanghai 200031, Peoples R ChinaLiao, Lu-Jian论文数: 0 引用数: 0 h-index: 0机构: East China Normal Univ, Shanghai Key Lab Regulatory Biol, Sch Life Sci, Shanghai 200241, Peoples R China Chinese Acad Sci, Shanghai Inst Biol Sci, Inst Neurosci, Shanghai 200031, Peoples R ChinaWu, Zhi-Ying论文数: 0 引用数: 0 h-index: 0机构: Zhejiang Univ, Sch Med, Affiliated Hosp 2, Dept Neurol, Hangzhou 310009, Zhejiang, Peoples R China Zhejiang Univ, Sch Med, Affiliated Hosp 2, Res Ctr Neurol, Hangzhou 310009, Zhejiang, Peoples R China Chinese Acad Sci, Shanghai Inst Biol Sci, Inst Neurosci, Shanghai 200031, Peoples R ChinaXiong, Zhi-Qi论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Sci, Shanghai Inst Biol Sci, Inst Neurosci, Shanghai 200031, Peoples R China Chinese Acad Sci, Shanghai Inst Biol Sci, State Key Lab Neurosci, CAS Ctr Excellence Brain Sci & Intelligence Techn, Shanghai 200031, Peoples R China Univ Chinese Acad Sci, Beijing 100049, Peoples R China Chinese Acad Sci, Shanghai Inst Biol Sci, Inst Neurosci, Shanghai 200031, Peoples R China
- [43] Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesiaNATURE GENETICS, 2011, 43 (12) : 1252 - U116Chen, Wan-Jin论文数: 0 引用数: 0 h-index: 0机构: Fudan Univ, Inst Brain Sci, Huashan Hosp, Dept Neurol, Shanghai 200433, Peoples R China Fudan Univ, Inst Brain Sci, Huashan Hosp, Inst Neurol, Shanghai 200433, Peoples R China Fudan Univ, State Key Lab Med Neurobiol, Shanghai Med Coll, Shanghai 200433, Peoples R China Fujian Med Univ, Affiliated Hosp 1, Dept Neurol, Fuzhou, Peoples R China Fujian Med Univ, Affiliated Hosp 1, Inst Neurol, Fuzhou, Peoples R China Fudan Univ, Inst Brain Sci, Huashan Hosp, Dept Neurol, Shanghai 200433, Peoples R ChinaLin, Yu论文数: 0 引用数: 0 h-index: 0机构: Fujian Med Univ, Affiliated Hosp 1, Dept Neurol, Fuzhou, Peoples R China Fujian Med Univ, Affiliated Hosp 1, Inst Neurol, Fuzhou, Peoples R China Fudan Univ, Inst Brain Sci, Huashan Hosp, Dept Neurol, Shanghai 200433, Peoples R ChinaXiong, Zhi-Qi论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Sci, Inst Neurosci, State Key Lab Neurosci, Shanghai Inst Biol Sci, Shanghai, Peoples R China Fudan Univ, Inst Brain Sci, Huashan Hosp, Dept Neurol, Shanghai 200433, Peoples R ChinaWei, Wei论文数: 0 引用数: 0 h-index: 0机构: Fujian Med Univ, Affiliated Hosp 1, Dept Neurol, Fuzhou, Peoples R China Fujian Med Univ, Affiliated Hosp 1, Inst Neurol, Fuzhou, Peoples R China Fudan Univ, Inst Brain Sci, Huashan Hosp, Dept Neurol, Shanghai 200433, Peoples R ChinaNi, Wang论文数: 0 引用数: 0 h-index: 0机构: Fudan Univ, Inst Brain Sci, Huashan Hosp, Dept Neurol, Shanghai 200433, Peoples R China Fudan Univ, Inst Brain Sci, Huashan Hosp, Inst Neurol, Shanghai 200433, Peoples R China Fudan Univ, State Key Lab Med Neurobiol, Shanghai Med Coll, Shanghai 200433, Peoples R China Fujian Med Univ, Affiliated Hosp 1, Dept Neurol, Fuzhou, Peoples R China Fujian Med Univ, Affiliated Hosp 1, Inst Neurol, Fuzhou, Peoples R China Fudan Univ, Inst Brain Sci, Huashan Hosp, Dept Neurol, Shanghai 200433, Peoples R ChinaTan, Guo-He论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Sci, Inst Neurosci, State Key Lab Neurosci, Shanghai Inst Biol Sci, Shanghai, Peoples R China Fudan Univ, Inst Brain Sci, Huashan Hosp, Dept Neurol, Shanghai 200433, Peoples R ChinaGuo, Shun-Ling论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Sci, Inst Neurosci, State Key Lab Neurosci, Shanghai Inst Biol Sci, Shanghai, Peoples R China Fudan Univ, Inst Brain Sci, Huashan Hosp, Dept Neurol, Shanghai 200433, Peoples R ChinaHe, Jin论文数: 0 引用数: 0 h-index: 0机构: Fujian Med Univ, Affiliated Hosp 1, Dept Neurol, Fuzhou, Peoples R China Fujian Med Univ, Affiliated Hosp 1, Inst Neurol, Fuzhou, Peoples R China Fudan Univ, Inst Brain Sci, Huashan Hosp, Dept Neurol, Shanghai 200433, Peoples R ChinaChen, Ya-Fang论文数: 0 引用数: 0 h-index: 0机构: Fujian Med Univ, Affiliated Hosp 1, Dept Neurol, Fuzhou, Peoples R China Fujian Med Univ, Affiliated Hosp 1, Inst Neurol, Fuzhou, Peoples R China Fudan Univ, Inst Brain Sci, Huashan Hosp, Dept Neurol, Shanghai 200433, Peoples R ChinaZhang, Qi-Jie论文数: 0 引用数: 0 h-index: 0机构: Fujian Med Univ, Affiliated Hosp 1, Dept Neurol, Fuzhou, Peoples R China Fujian Med Univ, Affiliated Hosp 1, Inst Neurol, Fuzhou, Peoples R China Fudan Univ, Inst Brain Sci, Huashan Hosp, Dept Neurol, Shanghai 200433, Peoples R ChinaLi, Hong-Fu论文数: 0 引用数: 0 h-index: 0机构: Fudan Univ, Inst Brain Sci, Huashan Hosp, Dept Neurol, Shanghai 200433, Peoples R China Fudan Univ, Inst Brain Sci, Huashan Hosp, Inst Neurol, Shanghai 200433, Peoples R China Fudan Univ, State Key Lab Med Neurobiol, Shanghai Med Coll, Shanghai 200433, Peoples R China Fudan Univ, Inst Brain Sci, Huashan Hosp, Dept Neurol, Shanghai 200433, Peoples R ChinaLin, Yi论文数: 0 引用数: 0 h-index: 0机构: Fujian Med Univ, Affiliated Hosp 1, Dept Neurol, Fuzhou, Peoples R China Fujian Med Univ, Affiliated Hosp 1, Inst Neurol, Fuzhou, Peoples R China Fudan Univ, Inst Brain Sci, Huashan Hosp, Dept Neurol, Shanghai 200433, Peoples R ChinaMurong, Shen-Xing论文数: 0 引用数: 0 h-index: 0机构: Fujian Med Univ, Affiliated Hosp 1, Dept Neurol, Fuzhou, Peoples R China Fujian Med Univ, Affiliated Hosp 1, Inst Neurol, Fuzhou, Peoples R China Fudan Univ, Inst Brain Sci, Huashan Hosp, Dept Neurol, Shanghai 200433, Peoples R ChinaXu, Jianfeng论文数: 0 引用数: 0 h-index: 0机构: Fudan Univ, Fudan Inst Urol, Shanghai Med Coll, Huashan Hosp, Shanghai 200433, Peoples R China Fudan Univ, Fudan Van Andel Res Inst VARI, Ctr Genet Epidemiol, Sch Life Sci, Shanghai 200433, Peoples R China Fudan Univ, Inst Brain Sci, Huashan Hosp, Dept Neurol, Shanghai 200433, Peoples R ChinaWang, Ning论文数: 0 引用数: 0 h-index: 0机构: Fujian Med Univ, Affiliated Hosp 1, Dept Neurol, Fuzhou, Peoples R China Fujian Med Univ, Affiliated Hosp 1, Inst Neurol, Fuzhou, Peoples R China Fudan Univ, Inst Brain Sci, Huashan Hosp, Dept Neurol, Shanghai 200433, Peoples R ChinaWu, Zhi-Ying论文数: 0 引用数: 0 h-index: 0机构: Fudan Univ, Inst Brain Sci, Huashan Hosp, Dept Neurol, Shanghai 200433, Peoples R China Fudan Univ, Inst Brain Sci, Huashan Hosp, Inst Neurol, Shanghai 200433, Peoples R China Fudan Univ, State Key Lab Med Neurobiol, Shanghai Med Coll, Shanghai 200433, Peoples R China Fudan Univ, Inst Brain Sci, Huashan Hosp, Dept Neurol, Shanghai 200433, Peoples R China
- [44] PRRT2 frameshift mutation reduces its mRNA stability resulting loss of function in paroxysmal kinesigenic dyskinesiaBIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 2020, 522 (03) : 553 - 559Pan, Yongcheng论文数: 0 引用数: 0 h-index: 0机构: Cent South Univ, Xiangya Hosp, Key Lab Hunan Prov Neurodegenerat Disorders, Changsha, Hunan, Peoples R China Emory Univ, Dept Human Genet, Sch Med, Atlanta, GA 30322 USA Cent South Univ, Xiangya Hosp, Key Lab Hunan Prov Neurodegenerat Disorders, Changsha, Hunan, Peoples R ChinaLiu, Qiong论文数: 0 引用数: 0 h-index: 0机构: Cent South Univ, Xiangya Hosp, Key Lab Hunan Prov Neurodegenerat Disorders, Changsha, Hunan, Peoples R China Emory Univ, Dept Human Genet, Sch Med, Atlanta, GA 30322 USA Cent South Univ, Xiangya Hosp, Key Lab Hunan Prov Neurodegenerat Disorders, Changsha, Hunan, Peoples R ChinaZhang, Jennifer论文数: 0 引用数: 0 h-index: 0机构: Emory Univ, Dept Human Genet, Sch Med, Atlanta, GA 30322 USA Cent South Univ, Xiangya Hosp, Key Lab Hunan Prov Neurodegenerat Disorders, Changsha, Hunan, Peoples R ChinaYang, Yang论文数: 0 引用数: 0 h-index: 0机构: Cent South Univ, Xiangya Hosp, Dept Neurol, Changsha, Hunan, Peoples R China Cent South Univ, Xiangya Hosp, Key Lab Hunan Prov Neurodegenerat Disorders, Changsha, Hunan, Peoples R ChinaTian, Yun论文数: 0 引用数: 0 h-index: 0机构: Cent South Univ, Xiangya Hosp, Dept Geriatr, Changsha, Hunan, Peoples R China Case Western Reserve Univ, Dept Neurosci, Cleveland, OH 44106 USA Cent South Univ, Xiangya Hosp, Key Lab Hunan Prov Neurodegenerat Disorders, Changsha, Hunan, Peoples R ChinaZeng, Junsheng论文数: 0 引用数: 0 h-index: 0机构: Cent South Univ, Xiangya Hosp, Dept Neurol, Changsha, Hunan, Peoples R China Cent South Univ, Xiangya Hosp, Key Lab Hunan Prov Neurodegenerat Disorders, Changsha, Hunan, Peoples R ChinaYin, Peng论文数: 0 引用数: 0 h-index: 0机构: Jinan Univ, Guangdong Hongkong Macau Inst CNS Regenerat, Minist Educ, CNS Regenerat Collaborat Joint Lab, Guangzhou, Peoples R China Cent South Univ, Xiangya Hosp, Key Lab Hunan Prov Neurodegenerat Disorders, Changsha, Hunan, Peoples R ChinaMei, Lin论文数: 0 引用数: 0 h-index: 0机构: Case Western Reserve Univ, Dept Neurosci, Cleveland, OH 44106 USA Cent South Univ, Xiangya Hosp, Key Lab Hunan Prov Neurodegenerat Disorders, Changsha, Hunan, Peoples R ChinaXiong, Wen-Cheng论文数: 0 引用数: 0 h-index: 0机构: Case Western Reserve Univ, Dept Neurosci, Cleveland, OH 44106 USA Cent South Univ, Xiangya Hosp, Key Lab Hunan Prov Neurodegenerat Disorders, Changsha, Hunan, Peoples R ChinaLi, Xiao-Jiang论文数: 0 引用数: 0 h-index: 0机构: Jinan Univ, Guangdong Hongkong Macau Inst CNS Regenerat, Minist Educ, CNS Regenerat Collaborat Joint Lab, Guangzhou, Peoples R China Cent South Univ, Xiangya Hosp, Key Lab Hunan Prov Neurodegenerat Disorders, Changsha, Hunan, Peoples R ChinaLi, Shihua论文数: 0 引用数: 0 h-index: 0机构: Jinan Univ, Guangdong Hongkong Macau Inst CNS Regenerat, Minist Educ, CNS Regenerat Collaborat Joint Lab, Guangzhou, Peoples R China Cent South Univ, Xiangya Hosp, Key Lab Hunan Prov Neurodegenerat Disorders, Changsha, Hunan, Peoples R ChinaTang, Beisha论文数: 0 引用数: 0 h-index: 0机构: Cent South Univ, Xiangya Hosp, Key Lab Hunan Prov Neurodegenerat Disorders, Changsha, Hunan, Peoples R China Cent South Univ, Xiangya Hosp, Dept Neurol, Changsha, Hunan, Peoples R China Cent South Univ, Xiangya Hosp, Natl Clin Res Ctr Geriatr Disorders, Changsha, Hunan, Peoples R China Cent South Univ, Ctr Med Genet, Sch Life Sci, Changsha, Hunan, Peoples R China Cent South Univ, Xiangya Hosp, Key Lab Hunan Prov Neurodegenerat Disorders, Changsha, Hunan, Peoples R China
- [45] PRRT2 c.649dupC Mutation Derived from De Novo in Paroxysmal Kinesigenic DyskinesiaCNS NEUROSCIENCE & THERAPEUTICS, 2013, 19 (01) : 61 - 65Li, Hong-Fu论文数: 0 引用数: 0 h-index: 0机构: Fudan Univ, Huashan Hosp, Dept Neurol, Shanghai 200040, Peoples R China Fudan Univ, Huashan Hosp, Inst Neurol, Shanghai 200040, Peoples R China Fudan Univ, Shanghai Med Coll, Inst Brain Sci, Shanghai 200040, Peoples R China Fudan Univ, Shanghai Med Coll, State Key Lab Med Neurobiol, Shanghai 200040, Peoples R China Fudan Univ, Huashan Hosp, Dept Neurol, Shanghai 200040, Peoples R ChinaNi, Wang论文数: 0 引用数: 0 h-index: 0机构: Fudan Univ, Huashan Hosp, Dept Neurol, Shanghai 200040, Peoples R China Fudan Univ, Huashan Hosp, Inst Neurol, Shanghai 200040, Peoples R China Fudan Univ, Shanghai Med Coll, Inst Brain Sci, Shanghai 200040, Peoples R China Fudan Univ, Shanghai Med Coll, State Key Lab Med Neurobiol, Shanghai 200040, Peoples R China Fudan Univ, Huashan Hosp, Dept Neurol, Shanghai 200040, Peoples R ChinaXiong, Zhi-Qi论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Sci, Shanghai Inst Biol Sci, State Key Lab Neurosci, Inst Neurosci, Shanghai, Peoples R China Fudan Univ, Huashan Hosp, Dept Neurol, Shanghai 200040, Peoples R ChinaXu, Jianfeng论文数: 0 引用数: 0 h-index: 0机构: Fudan Univ, Sch Life Sci, Fudan VARI Ctr Genet Epidemiol, Shanghai 200040, Peoples R China Fudan Univ, Huashan Hosp, Dept Neurol, Shanghai 200040, Peoples R ChinaWu, Zhi-Ying论文数: 0 引用数: 0 h-index: 0机构: Fudan Univ, Huashan Hosp, Dept Neurol, Shanghai 200040, Peoples R China Fudan Univ, Huashan Hosp, Inst Neurol, Shanghai 200040, Peoples R China Fudan Univ, Shanghai Med Coll, Inst Brain Sci, Shanghai 200040, Peoples R China Fudan Univ, Shanghai Med Coll, State Key Lab Med Neurobiol, Shanghai 200040, Peoples R China Fudan Univ, Huashan Hosp, Dept Neurol, Shanghai 200040, Peoples R China
- [46] A novel mutation and functional implications of 5 variants in the PRRT2 gene in 20 paroxysmal kinesigenic dyskinesia pedigreesPARKINSONISM & RELATED DISORDERS, 2013, 19 (06) : 639 - 642Jing, Xiang-Yi论文数: 0 引用数: 0 h-index: 0机构: Sun Yat Sen Univ, Zhongshan Sch Med, Dept Med Genet, Guangzhou 510080, Guangdong, Peoples R China Sun Yat Sen Univ, Ctr Genome Res, Guangzhou 510080, Guangdong, Peoples R China Sun Yat Sen Univ, Zhongshan Sch Med, Dept Med Genet, Guangzhou 510080, Guangdong, Peoples R ChinaLi, Xun-Hua论文数: 0 引用数: 0 h-index: 0机构: Sun Yat Sen Univ, Dept Neurol, Affiliated Hosp 1, Guangzhou 510080, Guangdong, Peoples R China Sun Yat Sen Univ, Zhongshan Sch Med, Dept Med Genet, Guangzhou 510080, Guangdong, Peoples R ChinaYuan, Ping论文数: 0 引用数: 0 h-index: 0机构: Sun Yat Sen Univ, Zhongshan Sch Med, Dept Med Genet, Guangzhou 510080, Guangdong, Peoples R China Sun Yat Sen Univ, Ctr Genome Res, Guangzhou 510080, Guangdong, Peoples R China Sun Yat Sen Univ, Dept Obstet & Gynecol, IVF Ctr, Sun Yat Sen Mem Hosp, Guangzhou 510120, Guangdong, Peoples R China Sun Yat Sen Univ, Zhongshan Sch Med, Dept Med Genet, Guangzhou 510080, Guangdong, Peoples R ChinaDeng, Jia论文数: 0 引用数: 0 h-index: 0机构: Sun Yat Sen Univ, Zhongshan Sch Med, Dept Med Genet, Guangzhou 510080, Guangdong, Peoples R China Sun Yat Sen Univ, Ctr Genome Res, Guangzhou 510080, Guangdong, Peoples R China Sun Yat Sen Univ, Zhongshan Sch Med, Dept Med Genet, Guangzhou 510080, Guangdong, Peoples R ChinaHu, Bin论文数: 0 引用数: 0 h-index: 0机构: Sun Yat Sen Univ, Zhongshan Sch Med, Dept Med Genet, Guangzhou 510080, Guangdong, Peoples R China Sun Yat Sen Univ, Ctr Genome Res, Guangzhou 510080, Guangdong, Peoples R China Sun Yat Sen Univ, Zhongshan Sch Med, Dept Med Genet, Guangzhou 510080, Guangdong, Peoples R ChinaWang, Yiming论文数: 0 引用数: 0 h-index: 0机构: Sun Yat Sen Univ, Zhongshan Sch Med, Dept Med Genet, Guangzhou 510080, Guangdong, Peoples R China Sun Yat Sen Univ, Ctr Genome Res, Guangzhou 510080, Guangdong, Peoples R China Sun Yat Sen Univ, Zhongshan Sch Med, Dept Med Genet, Guangzhou 510080, Guangdong, Peoples R China
- [47] Mutations in the Novel Protein PRRT2 Cause Paroxysmal Kinesigenic Dyskinesia with Infantile ConvulsionsNEUROLOGY, 2012, 78Lee, Hsien-yang论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, Dept Neurol, San Francisco, CA USA Univ Calif San Francisco, Dept Neurol, San Francisco, CA USAHuang, Yong论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, Dept Neurol, San Francisco, CA USA Univ Calif San Francisco, Dept Neurol, San Francisco, CA USAEdwards, Robert论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, Dept Neurol, San Francisco, CA USA Univ Calif San Francisco, Dept Neurol, San Francisco, CA USAHanna, Michael论文数: 0 引用数: 0 h-index: 0机构: UCL, Inst Neurol, London, England Univ Calif San Francisco, Dept Neurol, San Francisco, CA USABowcock, Anne论文数: 0 引用数: 0 h-index: 0机构: Washington Univ, Sch Med, Dept Genet, Div Human Genet, St Louis, MO 63110 USA Univ Calif San Francisco, Dept Neurol, San Francisco, CA USASzepetowski, Pierre论文数: 0 引用数: 0 h-index: 0机构: Univ Mediterranee, Inst Neurobiol Mediterranee, INMED Inserm, U901, Marseille, France Univ Calif San Francisco, Dept Neurol, San Francisco, CA USAFu, Ying-Hui论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, Dept Neurol, San Francisco, CA USA Univ Calif San Francisco, Dept Neurol, San Francisco, CA USAPtacek, Louis论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, Dept Neurol, San Francisco, CA USA Univ Calif San Francisco, Dept Neurol, San Francisco, CA USA
- [48] Mutations in the Novel Protein PRRT2 Cause Paroxysmal Kinesigenic Dyskinesia with Infantile ConvulsionsNEUROLOGY, 2012, 78Lee, Hsien-yang论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, Dept Neurol, San Francisco, CA USA Univ Calif San Francisco, Dept Neurol, San Francisco, CA USAHuang, Yong论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, Dept Neurol, San Francisco, CA USA Univ Calif San Francisco, Dept Neurol, San Francisco, CA USAEdwards, Robert论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, Dept Neurol, San Francisco, CA USA Univ Calif San Francisco, Dept Neurol, San Francisco, CA USAHanna, Michael论文数: 0 引用数: 0 h-index: 0机构: UCL, Inst Neurol, London, England Univ Calif San Francisco, Dept Neurol, San Francisco, CA USABowcock, Anne论文数: 0 引用数: 0 h-index: 0机构: Washington Univ, Sch Med, Dept Genet, Div Human Genet, St Louis, MO 63110 USA Univ Calif San Francisco, Dept Neurol, San Francisco, CA USASzepetowski, Pierre论文数: 0 引用数: 0 h-index: 0机构: Univ Mediterranee, Inserm U901, INMED, Inst Neurobiol Mediterranee, Marseille, France Univ Calif San Francisco, Dept Neurol, San Francisco, CA USAFu, Ying-Hui论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, Dept Neurol, San Francisco, CA USA Univ Calif San Francisco, Dept Neurol, San Francisco, CA USAPtacek, Louis论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, Dept Neurol, San Francisco, CA USA Univ Calif San Francisco, Dept Neurol, San Francisco, CA USA
- [49] Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesiaNature Genetics, 2011, 43 : 1252 - 1255Wan-Jin Chen论文数: 0 引用数: 0 h-index: 0机构: Huashan Hospital,Department of Neurology and Institute of NeurologyYu Lin论文数: 0 引用数: 0 h-index: 0机构: Huashan Hospital,Department of Neurology and Institute of NeurologyZhi-Qi Xiong论文数: 0 引用数: 0 h-index: 0机构: Huashan Hospital,Department of Neurology and Institute of NeurologyWei Wei论文数: 0 引用数: 0 h-index: 0机构: Huashan Hospital,Department of Neurology and Institute of NeurologyWang Ni论文数: 0 引用数: 0 h-index: 0机构: Huashan Hospital,Department of Neurology and Institute of NeurologyGuo-He Tan论文数: 0 引用数: 0 h-index: 0机构: Huashan Hospital,Department of Neurology and Institute of NeurologyShun-Ling Guo论文数: 0 引用数: 0 h-index: 0机构: Huashan Hospital,Department of Neurology and Institute of NeurologyJin He论文数: 0 引用数: 0 h-index: 0机构: Huashan Hospital,Department of Neurology and Institute of NeurologyYa-Fang Chen论文数: 0 引用数: 0 h-index: 0机构: Huashan Hospital,Department of Neurology and Institute of NeurologyQi-Jie Zhang论文数: 0 引用数: 0 h-index: 0机构: Huashan Hospital,Department of Neurology and Institute of NeurologyHong-Fu Li论文数: 0 引用数: 0 h-index: 0机构: Huashan Hospital,Department of Neurology and Institute of NeurologyYi Lin论文数: 0 引用数: 0 h-index: 0机构: Huashan Hospital,Department of Neurology and Institute of NeurologyShen-Xing Murong论文数: 0 引用数: 0 h-index: 0机构: Huashan Hospital,Department of Neurology and Institute of NeurologyJianfeng Xu论文数: 0 引用数: 0 h-index: 0机构: Huashan Hospital,Department of Neurology and Institute of NeurologyNing Wang论文数: 0 引用数: 0 h-index: 0机构: Huashan Hospital,Department of Neurology and Institute of NeurologyZhi-Ying Wu论文数: 0 引用数: 0 h-index: 0机构: Huashan Hospital,Department of Neurology and Institute of Neurology
- [50] PRRT2 deficiency induces paroxysmal kinesigenic dyskinesia by regulating synaptic transmission in cerebellumCell Research, 2018, 28 : 90 - 110Guo-He Tan论文数: 0 引用数: 0 h-index: 0机构: Institute of Neuroscience and State Key Laboratory of Neuroscience,Department of Human AnatomyYuan-Yuan Liu论文数: 0 引用数: 0 h-index: 0机构: Institute of Neuroscience and State Key Laboratory of Neuroscience,Department of Human AnatomyLu Wang论文数: 0 引用数: 0 h-index: 0机构: Institute of Neuroscience and State Key Laboratory of Neuroscience,Department of Human AnatomyKui Li论文数: 0 引用数: 0 h-index: 0机构: Institute of Neuroscience and State Key Laboratory of Neuroscience,Department of Human AnatomyZe-Qiang Zhang论文数: 0 引用数: 0 h-index: 0机构: Institute of Neuroscience and State Key Laboratory of Neuroscience,Department of Human AnatomyHong-Fu Li论文数: 0 引用数: 0 h-index: 0机构: Institute of Neuroscience and State Key Laboratory of Neuroscience,Department of Human AnatomyZhong-Fei Yang论文数: 0 引用数: 0 h-index: 0机构: Institute of Neuroscience and State Key Laboratory of Neuroscience,Department of Human AnatomyYang Li论文数: 0 引用数: 0 h-index: 0机构: Institute of Neuroscience and State Key Laboratory of Neuroscience,Department of Human AnatomyDan Li论文数: 0 引用数: 0 h-index: 0机构: Institute of Neuroscience and State Key Laboratory of Neuroscience,Department of Human AnatomyMing-Yue Wu论文数: 0 引用数: 0 h-index: 0机构: Institute of Neuroscience and State Key Laboratory of Neuroscience,Department of Human AnatomyChun-Lei Yu论文数: 0 引用数: 0 h-index: 0机构: Institute of Neuroscience and State Key Laboratory of Neuroscience,Department of Human AnatomyJuan-Juan Long论文数: 0 引用数: 0 h-index: 0机构: Institute of Neuroscience and State Key Laboratory of Neuroscience,Department of Human AnatomyRen-Chao Chen论文数: 0 引用数: 0 h-index: 0机构: Institute of Neuroscience and State Key Laboratory of Neuroscience,Department of Human AnatomyLi-Xi Li论文数: 0 引用数: 0 h-index: 0机构: Institute of Neuroscience and State Key Laboratory of Neuroscience,Department of Human AnatomyLu-Ping Yin论文数: 0 引用数: 0 h-index: 0机构: Institute of Neuroscience and State Key Laboratory of Neuroscience,Department of Human AnatomyJi-Wei Liu论文数: 0 引用数: 0 h-index: 0机构: Institute of Neuroscience and State Key Laboratory of Neuroscience,Department of Human AnatomyXue-Wen Cheng论文数: 0 引用数: 0 h-index: 0机构: Institute of Neuroscience and State Key Laboratory of Neuroscience,Department of Human AnatomyQi Shen论文数: 0 引用数: 0 h-index: 0机构: Institute of Neuroscience and State Key Laboratory of Neuroscience,Department of Human AnatomyYou-Sheng Shu论文数: 0 引用数: 0 h-index: 0机构: Institute of Neuroscience and State Key Laboratory of Neuroscience,Department of Human AnatomyKenji Sakimura论文数: 0 引用数: 0 h-index: 0机构: Institute of Neuroscience and State Key Laboratory of Neuroscience,Department of Human AnatomyLu-Jian Liao论文数: 0 引用数: 0 h-index: 0机构: Institute of Neuroscience and State Key Laboratory of Neuroscience,Department of Human AnatomyZhi-Ying Wu论文数: 0 引用数: 0 h-index: 0机构: Institute of Neuroscience and State Key Laboratory of Neuroscience,Department of Human AnatomyZhi-Qi Xiong论文数: 0 引用数: 0 h-index: 0机构: Institute of Neuroscience and State Key Laboratory of Neuroscience,Department of Human Anatomy