Fritz Zimprich

This paper establishes a human in vitro neuromuscular junction model to detect and functionally characterize myasthenia gravis autoantibodies with high sensitivity and specificity.

This study examines DNA methylation of Th2 cytokine genes in MuSK myasthenia gravis and finds hypomethylation of IL4 and IL13 promoters associated with increased cytokine expression, suggesting epigenetic dysregulation influenced by immunosuppressive therapy.

The paper investigates how genetic variants affecting transcription factor binding contribute to valproate-induced birth defects and identifies EP300 as a key regulator involved in this process.

This study examines the role of microdeletions in different epilepsy subtypes, finding enriched contributions in Genetic Generalized Epilepsy but not in Rolandic or Adult Focal Epilepsy.