Associated Papers
A cellular assay to determine the fusion capacity of MFN2 variants linked to Charcot-Marie-Tooth disease of type 2 A.
Barsa C et al.
Scientific Reports, 2025
40121276 (PubMed )
Supplement: 41598_2025_93702_MOESM1_ESM.pdf
Cerebral white matter abnormalities in patients with charcot-marie-tooth disease.
Lee M et al.
Annals of Neurology, 2017
MFN2-related neuropathies: Clinical features, molecular pathogenesis and therapeutic perspectives.
Stuppia G et al.
Journal of the Neurological Sciences, 2015
A cohort study of MFN2 mutations and phenotypic spectrums in Charcot-Marie-Tooth disease 2A patients.
Choi BO et al.
Clinical Genetics, 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
Sonography of the median nerve in CMT1A, CMT2A, CMTX, and HNPP.
Schreiber S et al.
Muscle & Nerve, 2013
Early onset severe and late-onset mild Charcot-Marie-Tooth disease with mitofusin 2 (MFN2) mutations.
Chung KW et al.
Brain : a Journal of Neurology, 2006
Charcot-marie-tooth disease: seventeen causative genes.
Lee JH et al.
Journal of Clinical Neurology (seoul, Korea), 2006
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