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。Microdeletions detected using chromosome microarray in children with suspected genetic movement disorders: a single-centre study
Russell C. Dale et al.
DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY (2012)
Mutations in the Gene PRRT2 Cause Paroxysmal Kinesigenic Dyskinesia with Infantile Convulsions
Hsien-Yang Lee et al.
CELL REPORTS (2012)
Identification of PRRT2 as the causative gene of paroxysmal kinesigenic dyskinesias
Jun-Ling Wang et al.
BRAIN (2011)
Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia
Wan-Jin Chen et al.
NATURE GENETICS (2011)
INFANTILE CONVULSIONS AND PAROXYSMAL KINESIGENIC DYSKINESIA WITH 16p11.2 MICRODELETION
Russell C. Dale et al.
NEUROLOGY (2011)
Direct Interaction between Causative Genes of DYT1 and DYT6 Primary Dystonia
Sophie Gavarini et al.
ANNALS OF NEUROLOGY (2010)
A Molecular Link Between Dystonia 1 and Dystonia 6?
Ulrich Mueller
ANNALS OF NEUROLOGY (2010)
The Dystonia Gene DYT1 Is Repressed by the Transcription Factor THAP1 (DYT6)
Frank J. Kaiser et al.
ANNALS OF NEUROLOGY (2010)
Discovery of a previously unrecognized microdeletion syndrome of 16p11.2-p12.2
Blake C. Ballif et al.
NATURE GENETICS (2007)
The imprinted gene and parent-of-origin effect database now includes parental origin of de novo mutations
Rivka L. Glaser et al.
NUCLEIC ACIDS RESEARCH (2006)