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Author

E. Bugiardini

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Open access Sep 2026

Clinical associations of pain in an international facioscapulohumeral muscular dystrophy cohort.

Pain intensity was associated with all domains, including physical function, anxiety, depression, fatigue, sleep disturbance, and pain interference, whereas binary pain status was associated with worse physical function, fatigue, sleep disturbance, and pain interference.

Renatta N. Knox, Leo H. Wang, B. Elsheikh et al. · 0 citations
Open access Jul 2026

Identification of Nuclear Genetic Loci Linked to Clinical Features of the m.3243A>G Mitochondrial DNA Variant

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. · 0 citations

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