MORC2

Publications

Ando M et al. Clinical and mutational spectrum of Charcot-Marie-Tooth disease type 2Z caused by MORC2 variants in Japan. Eur. J. Neurol. 2017; 24, 1274–1282. PMID: 28771897.

Albulym OM et al. MORC2 mutations cause axonal Charcot-Marie-Tooth disease with pyramidal signs. Ann. Neurol. 2016;79, 419–427. PMID: 26659848.

Douse CH et al. Neuropathic MORC2 mutations perturb GHKL ATPase dimerization dynamics and epigenetic silencing by multiple structural mechanisms. Nat. Commun. 2018;9, 651. PMID: 29440755.

Guillen Sacoto MJ et al. De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism. Am J Hum Genet. 2020; 107(2):352-363. PMID: 32693025.

Lassuthova P et al. Severe axonal Charcot-Marie-Tooth disease with proximal weakness caused by de novo mutation in the MORC2 gene. Brain. 2016; 139, e26. PMID: 26912637.

Sancho P et al. Characterization of molecular mechanisms underlying the axonal Charcot-Marie-Tooth neuropathy caused by MORC2 mutations. Hum. Mol. Genet. 2019;28, 1629–1644. PMID: 30624633.

Schottmann G et al. MORC2 mutation causes severe spinal muscular atrophy-phenotype, cerebellar atrophy, and diaphragmatic paralysis. Brain. 2016;139, e70. PMID: 27794525.

Semplicini C et al. High intra-familiar clinical variability in MORC2 mutated CMT2 patients. Brain. 2017;140, e21. PMID: 28334961.

Sevilla T et al. Mutations in the MORC2 gene cause axonal Charcot-Marie-Tooth disease. Brain. 2016;139, 62–72. PMID: 26497905.

Tchasovnikarova IA et al. Hyperactivation of HUSH complex function by Charcot-Marie-Tooth disease mutation in MORC2. Nat. Genet. 2017;49, 1035–1044. PMID: 28581500.

Zanni G et al. De novo p.T362R mutation in MORC2 causes early onset cerebellar ataxia, axonal polyneuropathy and nocturnal hypoventilation. Brain. 2017;140, e34. PMID: 28402445.