Per Harald Jonson

This study examines how SAHA affects skeletal muscle differentiation in C2C12 and L6 cells, showing delayed early differentiation and model-dependent changes in gene and protein expression.

This study investigates how Remodelin, a Nat10 inhibitor, affects myoblast differentiation in murine and rat cells, showing impaired myotube formation and maturation.

The paper identifies structural variants in the NEB gene across 35 families, showing large deletions cause dominant distal myopathy while recessive variants show no severity correlation.

The paper investigates ACTN2 variants causing distal myopathy and hypertrophic cardiomyopathy, finding that frameshift variants leading to protein extension cause aggregation, while missense variants do not.

This study identifies dysregulation of calcium homeostasis and T-cell apoptosis in IBM through transcriptomic analysis of muscle biopsies.