Marcel Weinreich

This study identifies TDP-43-driven splicing dysregulation as a common mechanism in ALS, FTD, and Alzheimer's disease, linking them through mis-spliced mRNAs like APP.

The paper introduces predicTTE, a tool for time-to-event prediction in neurological diseases, demonstrating its utility in genetic discovery and personalized medicine.

The paper identifies CCDC146 as a modifier of ALS survival through primary cilia dysfunction and shows ASO targeting of CCDC146 rescues ALS phenotypes in human and mouse models.

The paper investigates how mitochondrial function affects ALS severity but not risk, identifying specific genetic and expression factors linked to disease progression.