Author

B. Lombardo

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Open access Oct 2026

ACTN3 Variants Beyond Performance: Metabolic and Inflammatory Implications

Background: Athletic performance is a result of interaction between genetic and environmental factors, including training, nutrition, rest, hormonal and psychophysiological status. Numerous genes and polymorphisms can influence key physiological processes, such as muscle contractility, energy metabolism, oxidative capa...

Antonio Imperatore, Fernanda Iafusco, M. Calvanese et al. · Genes · 0 citations

Open access Aug 2026

Contribution of Copy Number Variants and Cumulative Genetic Load to Autism Spectrum Disorders: Integrative Insights from Chromosomal Microarray Analysis

Increased CNV burden, in both number and cumulative genomic size, co-occurred more frequently in individuals with severe phenotypes, including ASD with intellectual disability, epilepsy, and broader NDDs, reflecting a real-world clinical setting rather than a prospectively recruited research cohort.

M. R. Di Iorio, Ilaria La Monica, Antonio Imperatore et al. · International Journal of Mol... · 0 citations