Associated Papers
E4 ubiquitin ligase promotes mitofusin turnover and mitochondrial stress response.
Anton V et al.
Molecular Cell, 2023
37595558 (PubMed )
Supplement: mmc1.pdf
Natural history of Charcot-Marie-Tooth disease type 2A: a large international multicentre study.
Pipis M et al.
Brain : a Journal of Neurology, 2020
Genetic spectrum and clinical profiles in a southeast Chinese cohort of Charcot-Marie-Tooth disease.
Chen CX et al.
Clinical Genetics, 2019
A novel MFN2 mutation causes variable clinical severity in a multi-generational CMT2 family.
Dankwa L et al.
Neuromuscular Disorders : Nmd, 2019
Improving diagnosis of inherited peripheral neuropathies through gene panel analysis.
Laššuthová P et al.
Orphanet Journal of Rare Diseases, 2016
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
Large kindred evaluation of mitofusin 2 novel mutation, extremes of neurologic presentations, and preserved nerve mitochondria.
Klein CJ et al.
Archives of Neurology, 2011
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