MORC2 mutations in a cohort of Chinese patients with Charcot-Marie-Tooth disease type 2.
about
Clinical and mutational spectrum of Charcot-Marie-Tooth disease type 2Z caused by MORC2 variants in Japan.Hyperactivation of HUSH complex function by Charcot-Marie-Tooth disease mutation in MORC2.MORC Proteins: Novel Players in Plant and Animal Health.MORC2 mutation causes severe spinal muscular atrophy-phenotype, cerebellar atrophy, and diaphragmatic paralysis.Neuropathic MORC2 mutations perturb GHKL ATPase dimerization dynamics and epigenetic silencing by multiple structural mechanisms.De novo p.T362R mutation in MORC2 causes early onset cerebellar ataxia, axonal polyneuropathy and nocturnal hypoventilation.MORC2, a novel oncogene, is upregulated in liver cancer and contributes to proliferation, metastasis and chemoresistance.
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P2860
MORC2 mutations in a cohort of Chinese patients with Charcot-Marie-Tooth disease type 2.
description
2016 nî lūn-bûn
@nan
2016年の論文
@ja
2016年学术文章
@wuu
2016年学术文章
@zh
2016年学术文章
@zh-cn
2016年学术文章
@zh-hans
2016年学术文章
@zh-my
2016年学术文章
@zh-sg
2016年學術文章
@yue
2016年學術文章
@zh-hant
name
MORC2 mutations in a cohort of Chinese patients with Charcot-Marie-Tooth disease type 2.
@en
MORC2 mutations in a cohort of Chinese patients with Charcot-Marie-Tooth disease type 2.
@nl
type
label
MORC2 mutations in a cohort of Chinese patients with Charcot-Marie-Tooth disease type 2.
@en
MORC2 mutations in a cohort of Chinese patients with Charcot-Marie-Tooth disease type 2.
@nl
prefLabel
MORC2 mutations in a cohort of Chinese patients with Charcot-Marie-Tooth disease type 2.
@en
MORC2 mutations in a cohort of Chinese patients with Charcot-Marie-Tooth disease type 2.
@nl
P2093
P2860
P356
P1433
P1476
MORC2 mutations in a cohort of Chinese patients with Charcot-Marie-Tooth disease type 2.
@en
P2093
Beisha Tang
Jianfen Man
Ruxu Zhang
Xiaohong Zi
Xiaoming Wei
P2860
P356
10.1093/BRAIN/AWW156
P407
P577
2016-06-21T00:00:00Z