Genetic & Genomic MedicinemedRxivPreprint
A meta-analysis of genetic variant pathogenicity and sex differences in UBQLN2-linked amyotrophic lateral sclerosis and frontotemporal dementia
Kyrah M. Thumbadoo, Laura R. Nementzik, Molly E.V. Swanson…·Emma L. Scotter
This paper performs a meta-analysis of UBQLN2 genetic variants in ALS/FTD, finding sex-specific differences in age at onset and aggregate burden in brain tissue.
DOI 10.1101/2024.10.25.24316165