GeneticsHuman Molecular GeneticsPeer-reviewed
Metabolic, Fibrotic, and Splicing Pathways Are All Altered in Emery-Dreifuss Muscular Dystrophy Spectrum Patients to Differing Degrees
Jose I. de las Heras, Vanessa Todorow, Lejla Krečinić-Balić…·Eric C. Schirmer
This study identifies altered metabolic, fibrotic, and splicing pathways in EDMD patients through RNA-Seq and pathway analysis, revealing subgroup distinctions and potential biomarkers.
13 citations