Associated Papers
Frequent De Novo Mutations in Korean Patients With Charcot-Marie-Tooth Disease.
Lee AJ et al.
Journal of the Peripheral Nervous System : Jpns, 2025
E4 ubiquitin ligase promotes mitofusin turnover and mitochondrial stress response.
Anton V et al.
Molecular Cell, 2023
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
Mitochondria and peripheral neuropathies.
Vital A et al.
Journal of Neuropathology and Experimental Neurology, 2012
Early-onset Charcot-Marie-Tooth patients with mitofusin 2 mutations and brain involvement.
Chung KW et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2010
Different clinical and magnetic resonance imaging features between Charcot-Marie-Tooth disease type 1A and 2A.
Chung KW et al.
Neuromuscular Disorders : Nmd, 2008
MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 2.
Verhoeven K et al.
Brain : a Journal of Neurology, 2006
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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