Associated Papers
E4 ubiquitin ligase promotes mitofusin turnover and mitochondrial stress response.
Anton V et al.
Molecular Cell, 2023
37595558 (PubMed )
Supplement: mmc1.pdf
The Role of Impaired Mitochondrial Dynamics in MFN2-Mediated Pathology.
Zaman M et al.
Frontiers in Cell and Developmental Biology, 2022
The Pathological Features of Common Hereditary Mitochondrial Dynamics Neuropathy.
Wu R et al.
Frontiers in Neuroscience, 2021
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
Lifetime risk of autosomal recessive mitochondrial disorders calculated from genetic databases.
Tan J et al.
Ebiomedicine, 2020
32305867 (PubMed )
Supplement: mmc3.xlsx › Excluded_variants
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
[Ultrastructural lesions of axonal mitochondria in patients with childhood-onset Charcot-Marie-Tooth disease due to MFN2 mutations].
Funalot B et al.
Bulletin De L'academie Nationale De Medecine, 2009
Histopathological findings in hereditary motor and sensory neuropathy of axonal type with onset in early childhood associated with mitofusin 2 mutations.
Vallat JM et al.
Journal of Neuropathology and Experimental Neurology, 2008
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