Associated Papers
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
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
Expanding the FDXR-Associated Disease Phenotype: Retinal Dystrophy Is a Recurrent Ocular Feature.
Jurkute N et al.
Investigative Ophthalmology & Visual Science, 2021
33938912 (PubMed )
Supplement: iovs-62-6-2_s001.pdf
Select a paper to view details