Associated Papers
Charcot-Marie-Tooth type 2A variants of mitofusin 2 sensitize cells to apoptotic cell death.
Joaquim M et al.
Journal of Cell Science, 2025
The MFN2 Q367H variant reveals a novel pathomechanism connected to mtDNA-mediated inflammation.
Zaman M et al.
Life Science Alliance, 2025
Charcot-Marie-Tooth type 2A in vivo models: Current updates.
Abati E et al.
Journal of Cellular and Molecular Medicine, 2024
Charcot-Marie-tooth disease type 2A: An update on pathogenesis and therapeutic perspectives.
Alberti C et al.
Neurobiology of Disease, 2024
Mitofusin 1 overexpression rescues the abnormal mitochondrial dynamics caused by the Mitofusin 2 K357T mutation in vitro.
Stavropoulos F et al.
Journal of the Peripheral Nervous System : Jpns, 2023
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
Aberrant Mitochondrial Dynamics and Exacerbated Response to Neuroinflammation in a Novel Mouse Model of CMT2A.
Stavropoulos F et al.
International Journal of Molecular Sciences, 2021
The Pathological Features of Common Hereditary Mitochondrial Dynamics Neuropathy.
Wu R et al.
Frontiers in Neuroscience, 2021
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