Associated Papers
Pleiotropic effects of MORC2 derive from its epigenetic signature.
Peymani F et al.
Brain : a Journal of Neurology, 2026
40302207 (PubMed )
Supplement: awaf159_supplementary_data.zip › brain-2025-00099-File009.xlsx › Phenotypes_in_MORC2
Identification and characterization of a human MORC2 DNA binding region that is required for gene silencing.
Fendler NL et al.
Nucleic Acids Research, 2025
Biological functions and molecular mechanisms of MORC2 in human diseases.
Zhao X et al.
Molecules and Cells, 2025
Intermediate phenotype between CMT2Z and DIGFAN associated with a novel MORC2 variant: a case report.
Hanada K et al.
Human Genome Variation, 2024
Identification and characterization of a human MORC2 DNA binding region that is required for gene silencing.
Fendler NL et al.
Biorxiv : the Preprint Server for Biology, 2024
Case Report: Charcot-marie-tooth disease caused by a de novo MORC2 gene mutation - novel insights into pathogenicity and treatment.
Zhu F et al.
Frontiers in Genetics, 2024
Expanding the phenotypic variability of MORC2 gene mutations: From Charcot-Marie-Tooth disease to late-onset pure motor neuropathy.
Jacquier A et al.
Human Mutation, 2022
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
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
29440755 (PubMed )
Supplement: 41467_2018_3045_MOESM1_ESM.pdf
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
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