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科研机构
中南大学 [7]
内容类型
期刊论文 [7]
发表日期
2013 [7]
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共7条,第1-7条
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发表日期:2013
专题:中南大学
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Genetic association study of glucocerebrosidase gene L444P mutation in essential tremor and multiple system atrophy in mainland China
期刊论文
Journal of Clinical Neuroscience, 2013, 卷号: 20, 期号: 2, 页码: 217-219
作者:
Sun, Qi-ying
;
Guo, Ji-feng
;
Han, Wei-wei
;
Zuo, Xing
;
Wang, Lei
收藏
  |  
浏览/下载:6/0
  |  
提交时间:2019/12/03
Essential tremor
Glucocerebrosidase
L444P
Multiple system atrophy
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
Using next-generation sequencing as a genetic diagnostic tool in rare autosomal recessive neurologic Mendelian disorders
期刊论文
Neurobiology of Aging, 2013, 卷号: 34, 期号: 10, 页码: 2442.e11-2442.e17
作者:
Chen, Zhao
;
Wang, Jun-ling
;
Tang, Bei-sha
;
Sun, Zhan-fang
;
Shi, Yu-ting
收藏
  |  
浏览/下载:14/0
  |  
提交时间:2019/12/03
Targeted gene sequencing
Exome sequencing
Autosomal recessive
Neurologic Mendelian disorders
Genetic diagnostic strategy
SUMO-1 Modification on K166 of PolyQ-Expanded aTaxin-3 Strengthens Its Stability and Increases Its Cytotoxicity
期刊论文
PLOS ONE, 2013, 卷号: 8, 期号: 1, 页码: e54214
作者:
Zhou, Ya-Fang
;
Liao, Shu-Sheng
;
Luo, Ying-Ying
;
Tang, Jian-Guang
;
Wang, Jun-Ling
收藏
  |  
浏览/下载:5/0
  |  
提交时间:2019/12/03
SUMOylation,Immunoprecipitation,Lysine,Transfection,Ubiquitination,Subcellular localization,Apoptosis,Pathogenesis
Spinocerebellar ataxia type 35 (SCA35)-associated transglutaminase 6 mutants sensitize cells to apoptosis
期刊论文
Biochemical and Biophysical Research Communications, 2013, 卷号: 430, 期号: 2, 页码: 780-786
作者:
Guan, Wen-Juan
;
Wang, Jun-Ling
;
Liu, Yu-Tao
;
Ma, Yan-Tao
;
Zhou, Ying
收藏
  |  
浏览/下载:6/0
  |  
提交时间:2019/12/03
Apoptosis
Spinocerebellar ataxia 35 (SCA35)
Transglutaminase 6 (TG6)
C9orf72 mutation is rare in Alzheimer's disease, Parkinson's disease, and essential tremor in China
期刊论文
FRONTIERS IN CELLULAR NEUROSCIENCE, 2013, 卷号: 7, 期号: SEP, 页码: 164
作者:
Jiao, Bin
;
Guo, Ji-feng
;
Wang, Ya-qin
;
Yan, Xin-xiang
;
Zhou, Lin
收藏
  |  
浏览/下载:5/0
  |  
提交时间:2019/12/03
Alzheimer's disease
C9orf72
Parkinson's disease
essential tremor
risk factor
Lithium Chloride Alleviates Neurodegeneration Partly by Inhibiting Activity of GSK3β in a SCA3 Drosophila Model
期刊论文
Cerebellum (London, England), 2013, 卷号: 12, 期号: 6, 页码: 892-901
作者:
Jia, Dan-Dan
;
Zhang, Li
;
Chen, Zhao
;
Wang, Chun-Rong
;
Huang, Feng-Zhen
收藏
  |  
浏览/下载:4/0
  |  
提交时间:2019/12/03
SCA3
Ataxin-3
Drosophila model
Lithium chloride
Neuroprotective effect
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