MORC2 mutation causes severe spinal muscular atrophy-phenotype, cerebellar atrophy, and diaphragmatic paralysis.
about
Inherited Paediatric Motor Neuron Disorders: Beyond Spinal Muscular Atrophy.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.Selective silencing of euchromatic L1s revealed by genome-wide screens for L1 regulators.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.UBA1/GARS-dependent pathways drive sensory-motor connectivity defects in spinal muscular atrophy
P2860
Q33786829-17D0CA20-F25E-4EB8-B98B-576E6E8B507BQ38644080-02E4AC56-2EB3-4720-9485-42570B8D3B1CQ38743878-03041768-5E21-418E-AB8D-FFBBC9602466Q47277173-7CC6A7B3-8B3F-488B-87B8-54410182BCBDQ49824734-07705D89-8F5F-4F36-9ED5-6E1C166B7CB5Q50444579-C0388C73-DB64-4C13-9BB8-3C31B307D453Q58698132-234206AA-F1D2-4D77-9C34-D178A82BEEFB
P2860
MORC2 mutation causes severe spinal muscular atrophy-phenotype, cerebellar atrophy, and diaphragmatic paralysis.
description
2016 nî lūn-bûn
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2016年の論文
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2016年学术文章
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2016年学术文章
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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
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2016年學術文章
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name
MORC2 mutation causes severe s ...... , and diaphragmatic paralysis.
@en
MORC2 mutation causes severe s ...... , and diaphragmatic paralysis.
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type
label
MORC2 mutation causes severe s ...... , and diaphragmatic paralysis.
@en
MORC2 mutation causes severe s ...... , and diaphragmatic paralysis.
@nl
prefLabel
MORC2 mutation causes severe s ...... , and diaphragmatic paralysis.
@en
MORC2 mutation causes severe s ...... , and diaphragmatic paralysis.
@nl
P2093
P2860
P356
P1433
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MORC2 mutation causes severe s ...... , and diaphragmatic paralysis.
@en
P2093
Christiane Wagner
Franziska Seifert
Gudrun Schottmann
Markus Schuelke
Werner Stenzel
P2860
P356
10.1093/BRAIN/AWW252
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P577
2016-10-29T00:00:00Z