Benedikt G. H. Schoser

This study identifies mitochondrial dysfunction and mtDNA damage as early triggers of immune response in PM-Mito and IBM, linking mitochondrial abnormalities to inflammation and disease progression.

This paper investigates the use of ground germinated barley (GGB) as an oral enzyme replacement therapy (Oral-ERT) for Pompe disease in knockout mice, showing it can reverse enzyme defects and improve clinical phenotypes.

This study identifies altered metabolic, fibrotic, and splicing pathways in EDMD patients through RNA-Seq and pathway analysis, revealing subgroup distinctions and potential biomarkers.

This paper demonstrates that oral administration of ground transgenic tobacco seeds expressing human GAA (tobrhGAA) improves symptoms and enzyme activity in Pompe disease knockout mice.

This paper demonstrates that crotamine can deliver therapeutic genes to treat Pompe disease in vitro and in vivo, improving GAA activity and reversing clinical phenotypes.

The paper develops a statistical framework to evaluate mRNA biomarkers for DM1 treatment efficacy using machine learning and microarray data.