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上海神经科学研究所 [4]
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期刊论文 [14]
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浏览/检索结果:
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Phf8 histone demethylase deficiency causes cognitive impairments through the mTOR pathway
期刊论文
NATURE COMMUNICATIONS, 2018, 卷号: 9, 期号: 1, 页码: 114
作者:
Chen, Xuemei
;
Wang, Shuai
;
Zhou, Ying
;
Han, Yanfei
;
Li, Shengtian
收藏
  |  
浏览/下载:44/0
  |  
提交时间:2019/04/28
Linked Mental-retardation
Cleft lip/Cleft Palate
Synaptic Plasticity
Protein-synthesis
Cell-cycle
Gene
Mutations
Memory
Identification
Differentiation
CNKSR2 mutation causes the X-linked epilepsy-aphasia syndrome:A case report and review of literature
期刊论文
World Journal of Clinical Cases, 2018, 卷号: 6, 期号: 12, 页码: 570-576
作者:
Ying Sun
;
Yi-Dan Liu
;
Zhi-Feng Xu
;
Qing-Xia Kong
;
Yan-Ling Wang
收藏
  |  
浏览/下载:9/0
  |  
提交时间:2019/12/11
Epilepsy
Language impairment
Mental retardation
De novo mutation of CNKSR2
X-linked epilepsy-aphasia syndrome
Familial cases and male cases with MECP2 mutations
期刊论文
AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS, 2017
Zhang, Qingping
;
Zhao, Ying
;
Bao, Xinhua
;
Luo, Jinjun
;
Zhang, Xiaoying
;
Li, Jiarui
;
Wei, Liping
;
Wu, Xiru
收藏
  |  
浏览/下载:10/0
  |  
提交时间:2017/12/03
clinical manifestations
pathogenic gene spectrum
phenotypic heterogeneity
Rett syndrome
X-linked mental retardation
LINKED MENTAL-RETARDATION
RETT-SYNDROME
HOT-SPOT
PHENOTYPE
GENE
ENCEPHALOPATHY
INACTIVATION
METHYLATION
DYSFUNCTION
SPASTICITY
Neuron-specific Cul4b knockout mice recapture the cognitive impairment phenotype in human X-linked mental retardation patients
会议论文
中华医学会第十五次全国医学遗传学学术会议暨中国医师协会医学遗传医师分会第一届全国学术会议暨2016年浙江省医学遗传学年会
作者:
Jiang Baichun
;
Zhao Wei
;
Zhang Shuqian
;
Hu Huili
;
Shao Changshun
收藏
  |  
浏览/下载:12/0
  |  
提交时间:2019/12/31
Neuron-specific Cul4b knockout mice recapture the cognitive impairment phenotype in human X-linked mental retardation patients
ATRX tolerates activity-dependent histone H3 methyl/phos switching to maintain repetitive element silencing in neurons
期刊论文
proceedings of the national academy of sciences of the united states of america, 2014
Noh Kyung-Min
;
Maze Ian
;
Zhao Dan
;
Xiang Bin
;
Wenderski Wendy
;
Lewis Peter W
;
Shen Li
;
Li Haitao
;
Allis C David
收藏
  |  
浏览/下载:5/0
  |  
提交时间:2015/11/13
ATRX,H3K9me3S10ph,crystal structure,heterochromatin,neuron
Top3 beta is an RNA topoisomerase that works with fragile X syndrome protein to promote synapse formation
期刊论文
自然神经科学, 2013
Xu, Dongyi
;
Shen, Weiping
;
Guo, Rong
;
Xue, Yutong
;
Peng, Wei
;
Sima, Jian
;
Yang, Jay
;
Sharov, Alexei
;
Srikantan, Subramanya
;
Yang, Jiandong
;
Fox, David, III
;
Qian, Yong
;
Martindale, Jennifer L.
;
Piao, Yulan
;
Machamer, James
;
Joshi, Samit R.
;
Mohanty, Subhasis
;
Shaw, Albert C.
;
Lloyd, Thomas E.
;
Brown, Grant W.
;
Ko, Minoru S. H.
;
Gorospe, Myriam
;
Zou, Sige
;
Wang, Weidong
收藏
  |  
浏览/下载:8/0
  |  
提交时间:2015/11/16
MENTAL-RETARDATION PROTEIN
FOCAL ADHESION KINASE
MESSENGER-RNA
III-ALPHA
DNA-DAMAGE
STRESS GRANULES
DROSOPHILA
FMRP
SCHIZOPHRENIA
TRANSLATION
Roles of intracellular fibroblast growth factors in neural development and functions
期刊论文
SCIENCE CHINA-LIFE SCIENCES, 2012, 卷号: 55, 期号: 12, 页码: 1038-1044
作者:
Zhang, X
收藏
  |  
浏览/下载:19/0
  |  
提交时间:2013/06/04
FACTOR HOMOLOGOUS FACTORS
GATED SODIUM-CHANNELS
MICE LACKING FIBROBLAST-GROWTH-FACTOR-14
LINKED MENTAL-RETARDATION
DORSAL-ROOT GANGLION
FOLLISTATIN-LIKE 1
NEURONAL MIGRATION
NEUROPATHIC PAIN
FACTOR FAMILY
INTELLECTUAL DISABILITY
Fibroblast Growth Factor 13 Is a Microtubule-Stabilizing Protein Regulating Neuronal Polarization and Migration
期刊论文
CELL, 2012, 卷号: 149, 期号: 7, 页码: 1549-1564
作者:
Zhang, X
收藏
  |  
浏览/下载:40/0
  |  
提交时间:2013/06/04
FACTOR HOMOLOGOUS FACTORS
MULTIPOLAR STAGE
NERVOUS-SYSTEM
DOUBLECORTIN
MICE
OUTGROWTH
MEMORY
MAP1B
NUCLEOKINESIS
TRANSLOCATION
Fibroblast Growth Factor 13 Is a Microtubule-Stabilizing Protein Regulating Neuronal Polarization and Migration
期刊论文
CELL, 2012, 卷号: 149, 期号: 7, 页码: 1549-1564
作者:
Wu, QF
;
Yang, L
;
Li, S
;
Wang, Q
;
Yuan, XB
收藏
  |  
浏览/下载:21/0
  |  
提交时间:2015/07/22
Roles of intracellular fibroblast growth factors in neural development and functions
期刊论文
SCIENCE CHINA-LIFE SCIENCES, 2012, 卷号: 55, 期号: 12, 页码: 1038-1044
作者:
Zhang, X
;
Bao, L
;
Yang, L
;
Wu, QF
;
Li, S
收藏
  |  
浏览/下载:11/0
  |  
提交时间:2015/07/22
fibroblast growth factors
nervous system
development
microtubule
ion channel
X-linked mental retardation
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