Summary Background Diabetes mellitus is a common but incompletely characterised manifestation of mitochondrial diseases (MD). Data on risk factors, clinical course, and treatment recommendations are lacking. Methods In this multinational cohort study, we analysed longitudinal data of patients with a genetically confirm...
Luisa Semmler, B. Büchner, C. Kornblum et al.· EBioMedicine· 0 citations
Overall, these findings support an effect of the five variants on α-galactosidase A structure and function and highlight the value of integrating clinical, genetic, biochemical, and computational data for variant interpretation.
Monia Anania, V. Pagliardini, Marco Spada et al.· International Journal of Mol...· 0 citations
The value of large, well-characterized patient cohorts in identifying modifier loci and advancing knowledge of the mechanisms underlying phenotypic variability in mtDNA disease is highlighted, as each showed the strongest gene-level signals within the linkage region across complementary burden-testing methods.
R. Boggan, Theodora-Dafni Michalettou, Y. Ng et al.· Neurology: Genetics· 0 citations
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