Nancy‐Sarah Yacovzada

TDP-43 toxic gain of function links ALS, FTD and Alzheimers Disease through splicing dysregulation

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.

predicTTE: An accessible and optimal tool for time-to-event prediction in neurological diseases

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

Organellomics: AI-driven deep organellar phenotyping reveals novel ALS mechanisms in human neurons

The paper introduces NOVA, a deep learning model for analyzing organelle structures in neurons, revealing novel ALS mechanisms through phenotypic changes in TDP-43 and P-bodies.

Estimating Heritability of Glycaemic Response to Metformin using Nationwide Electronic Health Records and Population-Sized Pedigree

The paper estimates the heritability of metformin's glycaemic response using EHR data and population pedigrees, finding a heritability of 10.5-12.2%.

Circulating miR-181 is a prognostic biomarker for amyotrophic lateral sclerosis

The paper identifies miR-181 as a prognostic biomarker in ALS, showing it predicts higher mortality risk and improves prognosis prediction when combined with NfL.

Non-Coding Genetic Analysis Implicates Interleukin 18 Receptor Accessory Protein 3'UTR in Amyotrophic Lateral Sclerosis

The paper identifies non-coding variants in the IL18RAP 3'UTR that reduce ALS risk by modulating neuro-inflammation through NF-κB signaling in microglia.