Pubblicazioni

Salivary and serum irisin in healthy adults before and after exercise (2023)

The time course of irisin release after an acute exercise: relevant implications for health and future experimental designs (2024)

Effects of Exhaustive Exercise on Adiponectin and High-Molecular-Weight Oligomer Levels in Male Amateur Athletes (2024)

Influence of age and fitness level on β-endorphin response to acute aerobic exercise in healthy men (2025)

Plasma and salivary irisin response to moderate load/high volume resistance exercise in young, resistance-trained men (2025)

MiRNAs as biomarkers of phenotype in neutral lipid storage disease with myopathy (2020)

Correlation between ETFDH mutations and dysregulation of serum myomiRs in MADD patients (2020)

A novel PNPLA2 mutation causing total loss of RNA and protein expression in two NLSDM siblings with early onset but slowly progressive severe myopathy (2021)

ETF dehydrogenase advances in molecular genetics and impact on treatment (2021)

Recurrent N209* ABHD5 mutation in two unreported families with Chanarin Dorfman Syndrome (2021)

Neutral lipid storage disease with myopathy: A 10-year follow-up case report (2022)

Effects of Triheptanoin on Mitochondrial Respiration and Glycolysis in Cultured Fibroblasts from Neutral Lipid Storage Disease Type M (NLSD-M) Patients (2023)

A novel ABHD5 mutation in two Chanarin Dorfman siblings with severe and heterogeneous clinical phenotype (2023)

New perspectives in late-onset multiple acyl-CoA dehydrogenase deficiency: Clinical and genetic findings (2024)

XBP1s-EDEM2 Prevents the Onset and Development of HFpEF by Ameliorating Cardiac Lipotoxicity (2025)

Case Report: Pathogenic PNPLA2 variants and nonsense-mediated mRNA decay result in an early-onset neutral lipid storage disease with myopathy (2025)