Elisa Giorgio

This study validates allele-specific LMNB1 silencing in patient-derived astrocytes as a therapeutic approach for ADLD by showing restored physiological levels and functional improvements.

This study shows that Lamin B1 modulates nuclear deformability to regulate neuronal migration in the developing cortex, with implications for brain function.

This study identifies severe developmental anomalies and high miscarriage rates in patients with biallelic titin truncating variants, highlighting the need for TTN evaluation in congenital musculoskeletal and cardiac conditions.

This study identifies 99 genes associated with autism spectrum disorder through large-scale exome sequencing, showing differences in mutation frequencies between ASD and severe neurodevelopmental delay groups.

This study creates a new mouse model with a patient-derived SCA28 mutation and shows it leads to late-onset ataxia and mitochondrial dysfunction.