W. Ludo van der Pol

Translation-specific disruption of Col1a1 expression in multiple models of Spinal Muscular Atrophy can be rescued by Risdiplam.

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.

Comprehensive analysis across SMN2 excludes DNA methylation as an epigenetic biomarker for spinal muscular atrophy

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.

Patient-specific responses to SMN2 splice-modifying treatments in spinal muscular atrophy fibroblasts

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