Ilaria Signoria

The paper identifies COL1A1 as a translation-specific biomarker of SMA severity and shows it can be rescued by SMN-restoring therapies in multiple models.

This study analyzes SMN2 DNA methylation in SMA patients and finds no association with disease severity or treatment response, but identifies age-related methylation changes.

The paper analyzes responses to SMN2 splice-modifying treatments in SMA fibroblasts, finding variability in treatment efficacy based on patient-specific factors.

The paper introduces circAID-p-seq, a PCR-free method for phospho-RNA sequencing, and demonstrates its application in ribosome profiling to study RNA-protein interactions.