Maria Grazia Biferi

This paper investigates AAV-mediated PRKN gene replacement in Parkin-deficient models to restore mitophagy and demonstrate a feasible gene therapy approach for early-onset Parkinson's disease.

This study shows that SMN insufficiency in muscle stem cells leads to long-term motor neuron loss through non-cell autonomous mechanisms in SMA.

This study evaluates a gene therapy for SOD1-ALS, showing improved survival and CNS inflammation in treated mice with dose-dependent hSOD1 reduction.