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SpringerLink电子期刊(20)

在“SpringerLink电子期刊”中，命中：20条，耗时：小于0.01 秒

在所有数据库中总计命中：52条

1. Intronic PRRT2 mutation generates novel splice acceptor site and causes paroxysmal kinesigenic dyskinesia with infantile convulsions (PKD/IC) in a three generation family

作者： Axel Weber ; Jonas Kreth ; Ulrich Müller

关键词：Paroxysmal kinesigenic dyskinesia (PKD) ; Infantile convulsions (IC) ; PKD/IC ; Dystonia 10 ; PRRT2 ; Novel splice acceptor site

刊名：BMC Medical Genetics

出版年：2016

2. Identification of a Premature Termination Mutation in the Proline-Rich Transmembrane Protein 2 Gene in a Chinese Family with Febrile Seizures

作者： Wen Zheng ; Jie Zhang ; Xiong Deng ; Jingjing Xiao ; Lamei Yuan…

关键词：Febrile seizures ; Exome sequencing ; PRRT2 ; Mutation ; Genetic counseling

刊名：Molecular Neurobiology

出版年：2016

3. Novel loss-of-function PRRT2 mutation causes paroxysmal kinesigenic dyskinesia in a Han Chinese family

作者：Zhisong Ji (18)
Quanxi Su (19)
Lingling Hu (18)
Qi Yang (18)
Cuixian Liu (18)
Jun Xiong (18)
Fu Xiong (18)

18. Deparment of Medical Genetics ; School of Basic Medicine Sciences ; Southern Medical University ; Guangzhou ; China
19. Department of Neurology ; Yunfu People鈥檚 Hospital ; Yunfu ; China

关键词：Sanger sequencing ; Novel mutation ; c.186 ; 187delGC ; Protein function ; PKD ; PRRT2

刊名：BMC Neurology

出版年：2014

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

作者：Hong-Fu Li (1) (2)
Wan-Jin Chen (3)
Wang Ni (3)
Zhi-Ying Wu (1) (2)

关键词：paroxysmal kinesigenic dyskinesia ; myotonia congenita ; PRRT2 ; CLCN1

刊名：Neuroscience Bulletin

出版年：2014

5. Re-evaluation of PRRT2 mutations in paroxysmal disorders

作者：Xia Nan Guo (1) (2)
Qiang Lu (1)
Xiang Qin Zhou (1)
Qing Liu (1)
Xue Zhang (1) (2) (3)
Li-ying Cui (1)

关键词：PRRT2 ; Mutations ; Paroxysmal kinesigenic dyskinesia ; Infantile convulsions with choreoathetosis syndrome ; Seizures

刊名：Journal of Neurology

出版年：2014

6. Phenotypes and PRRT2 mutations in Chinese families with benign familial infantile epilepsy and infantile convulsions with paroxysmal choreoathetosis

作者：Xiaoling Yang (1)
Yuehua Zhang (1)
Xiaojing Xu (1)
Shuang Wang (1)
Zhixian Yang (1)
Ye Wu (1)
Xiaoyan Liu (1)
Xiru Wu (1)

关键词：Benign familial infantile epilepsy ; Infantile convulsions with paroxysmal choreoathetosis ; Phenotype ; PRRT2 ; Mutation

刊名：BMC Neurology

出版年：2013

7. Altered intrinsic brain activity in patients with paroxysmal kinesigenic dyskinesia by PRRT2 mutation

作者：ChunYan Luo (1)
Yongping Chen (1)
Wei Song (1)
Qin Chen (1)
QiYong Gong (2) (3)
Hui-Fang Shang (1)

关键词：Paroxysmal kinesigenic dyskinesia (PKD) ; Proline ; rich transmembrane protein 2 (PRRT2) ; Mutation ; C.649_650insC ; Resting ; state functional magnetic resonance imaging (rfMRI) ; Amplitude of low ; frequency fluctuation (ALFF)

刊名：Neurological Sciences

出版年：2013

8. Clinical and polygraphic study of familial paroxysmal kinesigenic dyskinesia with PRRT2 mutation

作者：Margherita Fabbri (1569) (4569)
Carla Marini (2569)
Francesca Bisulli (1569)
Lidia Di Vito (1569)
Antonio Elia (3569)
Renzo Guerrini (2569)
Davide Mei (2569)
Paolo Tinuper (1569)

关键词：paroxysmal kinesigenic dyskinesia ; PRRT2 ; female prevalence

刊名：Epileptic Disorders

出版年：2013

9. Recent Advances in the Genetics of Dystonia

作者： Jianfeng Xiao ; Satya R. Vemula…

关键词：Dystonia ; PRRT2 ; CIZ1 ; GNAL ; ANO3 ; TUBB4A ; Whole ; exome sequencing

刊名：Current Neurology and Neuroscience Reports

出版年：2014

10. Benign infantile convulsion as a diagnostic clue of paroxysmal kinesigenic dyskinesia: a case series

作者： Naoya Matsumoto ; Satoru Takahashi ; Akie Okayama…

关键词：Benign infantile convulsion ; Mutation ; Paroxysmal kinesigenic dyskinesia ; PRRT2 ; Seizures

刊名：Journal of Medical Case Reports

出版年：2014

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