NovelPRRT2mutations in paroxysmal dyskinesia patients with variant inheritance and phenotypes
出版年份 2012 全文链接
标题
NovelPRRT2mutations in paroxysmal dyskinesia patients with variant inheritance and phenotypes
作者
关键词
-
出版物
GENES BRAIN AND BEHAVIOR
Volume 12, Issue 2, Pages 234-240
出版商
Wiley
发表日期
2012-11-29
DOI
10.1111/gbb.12008
参考文献
相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。- PRRT2 Mutations Cause Benign Familial Infantile Epilepsy and Infantile Convulsions with Choreoathetosis Syndrome
- (2012) Sarah E. Heron et al. AMERICAN JOURNAL OF HUMAN GENETICS
- PRRT2 Mutations are the major cause of benign familial infantile seizures
- (2012) Julian Schubert et al. HUMAN MUTATION
- Mutations in PRRT2 responsible for paroxysmal kinesigenic dyskinesias also cause benign familial infantile convulsions
- (2012) Shinji Ono et al. JOURNAL OF HUMAN GENETICS
- PRRT2 mutations: A major cause of paroxysmal kinesigenic dyskinesia in the European population
- (2012) A. Meneret et al. NEUROLOGY
- Paroxysmal kinesigenic dyskinesia: Cortical or non-cortical origin
- (2012) Teun W. van Strien et al. PARKINSONISM & RELATED DISORDERS
- Identification of a novel PRRT2 mutation in patients with paroxysmal kinesigenic dyskinesias and c.649dupC as a mutation hot-spot
- (2012) Li Cao et al. PARKINSONISM & RELATED DISORDERS
- Mutations in the Gene PRRT2 Cause Paroxysmal Kinesigenic Dyskinesia with Infantile Convulsions
- (2012) Hsien-Yang Lee et al. Cell Reports
- Regional and developmental brain expression patterns of SNAP25 splice variants
- (2011) Gerald R Prescott et al. BMC NEUROSCIENCE
- Identification of PRRT2 as the causative gene of paroxysmal kinesigenic dyskinesias
- (2011) J.-L. Wang et al. BRAIN
- Targeted genomic sequencing identifiesPRRT2mutations as a cause of paroxysmal kinesigenic choreoathetosis
- (2011) Jingyun Li et al. JOURNAL OF MEDICAL GENETICS
- Mutations inPRRT2result in paroxysmal dyskinesias with marked variability in clinical expression
- (2011) Qing Liu et al. JOURNAL OF MEDICAL GENETICS
- Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia
- (2011) Wan-Jin Chen et al. NATURE GENETICS
- A method and server for predicting damaging missense mutations
- (2010) Ivan A Adzhubei et al. NATURE METHODS
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