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中南大学 [3]
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南海海洋研究所 [1]
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海洋研究所 [1]
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期刊论文 [9]
其他 [1]
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2011 [2]
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Characteristics of
Shisa
Family Genes in Zebrafish
期刊论文
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, 2023, 卷号: 24, 期号: 18, 页码: 17
作者:
Liu, Yansong
;
Du, Na
;
Qian, Beibei
;
Zou, Congcong
;
Yu, Zhouxin
收藏
  |  
浏览/下载:2/0
  |  
提交时间:2024/04/07
gene expression
knockdown
CRISPR/Cas13d
shisa-2
mesp-ab
somite formation
The study of exercise tests in paroxysmal kinesigenic dyskinesia.
期刊论文
Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology, 2018, 卷号: 129, 期号: 11
作者:
Zhou Hai-Yan
;
Zhan Fei-Xia
;
Tian Wo-Tu
;
Zhang Chao
;
Wang Yan
收藏
  |  
浏览/下载:14/0
  |  
提交时间:2019/12/06
Compound muscle action potential
Hypokalaemic periodic paralysis
Long exercise test
Paroxysmal kinesigenic dyskinesia
Proline-rich transmembrane protein 2
Short exercise test
Proline-Rich Transmembrane Protein 2-Negative Paroxysmal Kinesigenic Dyskinesia: Clinical and Genetic Analyses of 163 Patients
期刊论文
2018, 卷号: 33, 期号: 3, 页码: 459-467
作者:
Tian, Wo-Tu
;
Huang, Xiao-Jun
;
Mao, Xiao
;
Liu, Qing
;
Liu, Xiao-Li
收藏
  |  
浏览/下载:4/0
  |  
提交时间:2020/01/03
paroxysmal kinesigenic dyskinesia (PKD)
genotype
phenotype
clinical exome sequencing
Identification of a Premature Termination Mutation in the Proline-Rich Transmembrane Protein 2 Gene in a Chinese Family with Febrile Seizures
期刊论文
Molecular Neurobiology, 2016, 卷号: 53, 期号: 2, 页码: 835-841
作者:
Zheng, Wen
;
Zhang, Jie
;
Deng, Xiong
;
Xiao, Jingjing
;
Yuan, Lamei
收藏
  |  
浏览/下载:2/0
  |  
提交时间:2019/12/03
Febrile seizures
Exome sequencing
PRRT2
Mutation
Genetic counseling
Urine-derived induced pluripotent stem cells as a modeling tool for paroxysmal kinesigenic dyskinesia
期刊论文
BIOLOGY OPEN, 2015, 卷号: 4, 期号: 12
作者:
Zhang, Shu-Zhen
;
Li, Hong-Fu
;
Ma, Li-Xiang
;
Qian, Wen-Jing
;
Wang, Zhong-Feng
收藏
  |  
浏览/下载:1/0
  |  
提交时间:2019/12/19
Paroxysmal kinesigenic dyskinesia
Proline-rich transmembrane protein 2
Human induced pluripotent stem cells
Mutation analysis of PRRT2 in two Chinese BFIS families and nomenclature of PRRT2 related paroxysmal diseases
期刊论文
Neuroscience letters, 2013, 卷号: 552, 页码: 40-45
作者:
Jun-Ling Wang
;
Xiao Mao
;
Zheng-Mao Hu
;
Jia-Da Li
;
Nan Li
收藏
  |  
浏览/下载:12/0
  |  
提交时间:2019/12/03
BFIS
DNA
ICCA
Linkage analysis
PED
PKD
PNKD
PRRT2
Paroxysmal diseases
PxDs
benign familial infantile seizures
deoxyribonucleic acid
infantile convulsions and choreoathetosis
paroxysmal dyskinesis
paroxysmal exercise-induced dyskinesia
paroxysmal kinesigenic dyskinesias
paroxysmal non-kinesigenic dyskinesia
proline-rich transmembrane protein 2
Characterization of an envelope gene VP19 from Singapore grouper iridovirus
期刊论文
VIROLOGY JOURNAL, 2013, 卷号: 10, 页码: -354
[Huang, Xiaohong
;
Huang, Youhua
;
Ouyang, Zhengliang
;
Wang, Shaowen
;
Chen, Xiuli
;
Qin, Qiwei] Chinese Acad Sci, South China Sea Inst Oceanol, Key Lab Trop Marine Bioresources & Ecol, Guangzhou 510301, Guangdong, Peoples R China
;
[Gong, Jie] Sun Yat Sen Univ, Sch Life Sci, State Key Lab Biocontrol, Guangzhou 510275, Guangdong, Peoples R China
收藏
  |  
浏览/下载:16/0
  |  
提交时间:2015/01/22
SGIV
Iridovirus
VP19
Envelope protein
Virus assembly
Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia
期刊论文
NATURE GENETICS, 2011, 卷号: 43, 期号: 12, 页码: 1252-U116
作者:
Xiong, Zhi-Qi
收藏
  |  
浏览/下载:58/0
  |  
提交时间:2012/07/13
HUMAN-CHROMOSOME 16
CHOREOATHETOSIS
DISORDERS
LINKAGE
LOCUS
CHANNELOPATHIES
GENES
MAPS
Identification of PRRT2 as the causative gene of paroxysmal kinesigenic dyskinesias
期刊论文
Brain, 2011, 卷号: 134, 期号: 12, 页码: 3490-3498
作者:
Wang, Jun-Ling
;
Cao, Li
;
Li, Xun-Hua
;
Hu, Zheng-Mao
;
Li, Jia-Da
收藏
  |  
浏览/下载:12/0
  |  
提交时间:2019/12/03
proline-rich transmembrane protein 2
paroxysmal kinesigenic dyskinesias
whole-exome sequencing
linkage analysis
BASIC FUNCTIONAL STUDY OF THE H-REV107 PROTEIN FROM HOMO SAPIENS AND THE SOLUTION STRUCTURE OF ITS N-TERMINAL DOMAIN
其他
2009-01-01
Xiaobai REN
;
Hejia WEI
;
Yanjun LI
;
Shuo WAN
;
Changwen JIN
;
Jian LIN
;
Bin XIA
收藏
  |  
浏览/下载:5/0
  |  
提交时间:2017/12/03
proline
conserved
boxes
transmembrane
putative
hydrophobic
BASIC
mitochondria
encoding
stranded
proline
conserved
boxes
transmembrane
putative
hydrophobic
BASIC
mitochondria
encoding
stranded
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