Associated Papers
Genetic diversity in hereditary axonal neuropathy: Analyzing 53 Brazilian children.
Figueiredo FB et al.
Journal of the Peripheral Nervous System : Jpns, 2024
E4 ubiquitin ligase promotes mitofusin turnover and mitochondrial stress response.
Anton V et al.
Molecular Cell, 2023
37595558 (PubMed )
Supplement: mmc1.pdf
Clinical significance of genetic variation in hypertrophic cardiomyopathy: comparison of computational tools to prioritize missense variants.
Barbosa P et al.
Frontiers in Cardiovascular Medicine, 2022
36061567 (PubMed )
Supplement: Table_1.XLSX › Table_S6
Natural history of Charcot-Marie-Tooth disease type 2A: a large international multicentre study.
Pipis M et al.
Brain : a Journal of Neurology, 2020
33415332 (PubMed )
Supplement: awaa323_supplementary_data.zip › awaa323-suppl_data › brain-2020-01188-File006.pdf
Structural insights of human mitofusin-2 into mitochondrial fusion and CMT2A onset.
Li YJ et al.
Nature Communications, 2019
31664033 (PubMed )
Supplement: 41467_2019_12912_MOESM1_ESM.pdf
Late-onset hereditary sensory and autonomic neuropathy expands the phenotypic spectrum of MFN2-related diseases.
Wu R et al.
Neuropathology : Official Journal of the Japanese Society of Neuropathology, 2018
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
A late-onset and mild form of Charcot-Marie-Tooth disease type 2 caused by a novel splice-site mutation within the Mitofusin-2 gene.
Kotruchow K et al.
Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology, 2013
Mitochondria and peripheral neuropathies.
Vital A et al.
Journal of Neuropathology and Experimental Neurology, 2012
Clinical, electrophysiological and pathological findings of a patient with CMT2 due to the p.Ala738Val mitofusin 2 mutation.
Luigetti M et al.
Journal of the Neurological Sciences, 2011
Select a paper to view details