Associated Papers
A Cockayne-like phenotype resulting from a de novo variant in MORC2: expanding the phenotype of MORC2-related disorders.
Mirchi A et al.
Neurogenetics, 2022
Microrchidia CW-Type Zinc Finger 2, a Chromatin Modifier in a Spectrum of Peripheral Neuropathies.
Jacquier A et al.
Frontiers in Cellular Neuroscience, 2022
Morc2a p.S87L mutant mice develop peripheral and central neuropathies associated with neuronal DNA damage and apoptosis.
Lee GS et al.
Disease Models & Mechanisms, 2021
MORC2 gene de novo mutation leads to Charcot-Marie-Tooth disease type 2Z: A pediatric case report and literature review.
Yang H et al.
Medicine, 2021
Charcot-Marie-Tooth disease due to MORC2 mutations in Spain.
Sivera R et al.
European Journal of Neurology, 2021
Characterization of genotype-phenotype correlation with MORC2 mutated Axonal Charcot-Marie-Tooth disease in a cohort of Chinese patients.
Duan X et al.
Orphanet Journal of Rare Diseases, 2021
Characterization of molecular mechanisms underlying the axonal Charcot-Marie-Tooth neuropathy caused by MORC2 mutations.
Sancho P et al.
Human Molecular Genetics, 2019
Neuropathic MORC2 mutations perturb GHKL ATPase dimerization dynamics and epigenetic silencing by multiple structural mechanisms.
Douse CH et al.
Nature Communications, 2018
Hyperactivation of HUSH complex function by Charcot-Marie-Tooth disease mutation in MORC2.
Tchasovnikarova IA et al.
Nature Genetics, 2017
De novo p.T362R mutation in MORC2 causes early onset cerebellar ataxia, axonal polyneuropathy and nocturnal hypoventilation.
Zanni G et al.
Brain : a Journal of Neurology, 2017
MORC2 mutation causes severe spinal muscular atrophy-phenotype, cerebellar atrophy, and diaphragmatic paralysis.
Schottmann G et al.
Brain : a Journal of Neurology, 2016
MORC2 mutations in a cohort of Chinese patients with Charcot-Marie-Tooth disease type 2.
Zhao X et al.
Brain : a Journal of Neurology, 2016
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