Literature DB >> 23535490

PRRT2 mutation correlated with phenotype of paroxysmal kinesigenic dyskinesia and drug response.

Hong-Fu Li1, Wan-Jin Chen, Wang Ni, Kai-Yan Wang, Gong-Lu Liu, Ning Wang, Zhi-Qi Xiong, Jianfeng Xu, Zhi-Ying Wu.   

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Year:  2013        PMID： 23535490     DOI： 10.1212/WNL.0b013e31828cf7e1

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


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  20 in total

Review 1.  Diagnosis and treatment of chorea syndromes.

Authors:  Andreas Hermann; Ruth H Walker
Journal:  Curr Neurol Neurosci Rep       Date:  2015       Impact factor: 5.081

2.  Clinical and genetic analyses of 150 patients with paroxysmal kinesigenic dyskinesia.

Authors:  Xiaoli Liu; Huiyi Ke; Xiaohang Qian; Shige Wang; Feixia Zhan; Ziyi Li; Wotu Tian; Xiaojun Huang; Bin Zhang; Li Cao
Journal:  J Neurol       Date:  2022-04-15       Impact factor: 6.682

3.  Clinical manifestations in paroxysmal kinesigenic dyskinesia patients with proline-rich transmembrane protein 2 gene mutation.

Authors:  Jinyoung Youn; Ji Sun Kim; Munhyang Lee; Jeehun Lee; Hakjae Roh; Chang-Seok Ki; Jin Whan Choa
Journal:  J Clin Neurol       Date:  2014-01-06       Impact factor: 3.077

4.  Paroxysmal kinesigenic dyskinesia and myotonia congenita in the same family: coexistence of a PRRT2 mutation and two CLCN1 mutations.

Authors:  Hong-Fu Li; Wan-Jin Chen; Wang Ni; Zhi-Ying Wu
Journal:  Neurosci Bull       Date:  2014-09-05       Impact factor: 5.203

5.  Novel Locus for Paroxysmal Kinesigenic Dyskinesia Mapped to Chromosome 3q28-29.

Authors:  Ding Liu; Yumiao Zhang; Yu Wang; Chanjuan Chen; Xin Li; Jinxia Zhou; Zhi Song; Bo Xiao; Kevin Rasco; Feng Zhang; Shu Wen; Guoliang Li
Journal:  Sci Rep       Date:  2016-05-13       Impact factor: 4.379

6.  Urine-derived induced pluripotent stem cells as a modeling tool for paroxysmal kinesigenic dyskinesia.

Authors:  Shu-Zhen Zhang; Hong-Fu Li; Li-Xiang Ma; Wen-Jing Qian; Zhong-Feng Wang; Zhi-Ying Wu
Journal:  Biol Open       Date:  2015-11-30       Impact factor: 2.422

7.  PRRT2 Mutant Leads to Dysfunction of Glutamate Signaling.

Authors:  Ming Li; Fenghe Niu; Xilin Zhu; Xiaopan Wu; Ning Shen; Xiaozhong Peng; Ying Liu
Journal:  Int J Mol Sci       Date:  2015-04-23       Impact factor: 5.923

8.  Mutation Analysis of MR-1, SLC2A1, and CLCN1 in 28 PRRT2-negative Paroxysmal Kinesigenic Dyskinesia Patients.

Authors:  Hong-Xia Wang; Hong-Fu Li; Gong-Lu Liu; Xiao-Dan Wen; Zhi-Ying Wu
Journal:  Chin Med J (Engl)       Date:  2016-05-05       Impact factor: 2.628

Review 9.  The clinical and genetic heterogeneity of paroxysmal dyskinesias.

Authors:  Alice R Gardiner; Fatima Jaffer; Russell C Dale; Robyn Labrum; Roberto Erro; Esther Meyer; Georgia Xiromerisiou; Maria Stamelou; Matthew Walker; Dimitri Kullmann; Tom Warner; Paul Jarman; Mike Hanna; Manju A Kurian; Kailash P Bhatia; Henry Houlden
Journal:  Brain       Date:  2015-11-23       Impact factor: 13.501

10.  PRRT2 deficiency induces paroxysmal kinesigenic dyskinesia by regulating synaptic transmission in cerebellum.

Authors:  Guo-He Tan; Yuan-Yuan Liu; Lu Wang; Kui Li; Ze-Qiang Zhang; Hong-Fu Li; Zhong-Fei Yang; Yang Li; Dan Li; Ming-Yue Wu; Chun-Lei Yu; Juan-Juan Long; Ren-Chao Chen; Li-Xi Li; Lu-Ping Yin; Ji-Wei Liu; Xue-Wen Cheng; Qi Shen; You-Sheng Shu; Kenji Sakimura; Lu-Jian Liao; Zhi-Ying Wu; Zhi-Qi Xiong
Journal:  Cell Res       Date:  2017-10-20       Impact factor: 25.617
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