Associated Papers
Mitochondrial DNA release and inflammation in mitochondrial disease pathogenesis.
Szabo M et al.
Brain : a Journal of Neurology, 2026
Nationwide Characterization of MFN2-Related CMT in 176 Japanese Patients: Clinical and Genetic Insights.
Ando M et al.
Annals of Clinical and Translational Neurology, 2026
Advances and challenges in modeling Charcot-Marie-Tooth type 2A using iPSC-derived models.
Rizzuti M et al.
Stem Cell Reports, 2025
Digenesis in Charcot-Marie-Tooth Disease: Impact of Combined Mutations in the MFN2 and GDAP1 Genes.
Shumeri E et al.
Journal of the Peripheral Nervous System : Jpns, 2025
The MFN2 Q367H variant reveals a novel pathomechanism connected to mtDNA-mediated inflammation.
Zaman M et al.
Life Science Alliance, 2025
A cellular assay to determine the fusion capacity of MFN2 variants linked to Charcot-Marie-Tooth disease of type 2 A.
Barsa C et al.
Scientific Reports, 2025
40121276 (PubMed )
Supplement: 41598_2025_93702_MOESM1_ESM.pdf
A human mitofusin 2 mutation can cause mitophagic cardiomyopathy.
Franco A et al.
Elife, 2023
37910431 (PubMed )
Supplement: elife-84235-fig1-data1.xlsx › Sheet1
Charcot-Marie-Tooth disease: Genetic profile of patients from a large Brazilian neuromuscular reference center.
Uchôa Cavalcanti EB et al.
Journal of the Peripheral Nervous System : Jpns, 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
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