Associated Papers
Identification of pathogenic missense mutations using protein stability predictors.
Gerasimavicius L et al.
Scientific Reports, 2020
32958805 (PubMed )
Supplement: 41598_2020_72404_MOESM2_ESM.xlsx › ClinVar
Genome scale analysis of pathogenic variants targetable for single base editing.
Lavrov AV et al.
Bmc Medical Genomics, 2020
32948190 (PubMed )
Supplement: 12920_2020_735_MOESM1_ESM.xlsx › mutations
Molecular modelling of mitofusin 2 for a prediction for Charcot-Marie-Tooth 2A clinical severity.
Beręsewicz M et al.
Scientific Reports, 2018
30442897 (PubMed )
Supplement: 41598_2018_35133_MOESM1_ESM.docx
MFN2-related neuropathies: Clinical features, molecular pathogenesis and therapeutic perspectives.
Stuppia G et al.
Journal of the Neurological Sciences, 2015
Mutation analysis of MFN2, GJB1, MPZ and PMP22 in Italian patients with axonal Charcot-Marie-Tooth disease.
Bergamin G et al.
Neuromolecular Medicine, 2014
MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 2.
Verhoeven K et al.
Brain : a Journal of Neurology, 2006
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