The genetics of TDP43-Type-C neurodegeneration: a whole genome sequencing study
Malik M. Nassan, Iván Alejandro De León Ayala, Jennifer Sloan, Anna Bonfitto, Bobbi Stark, Serena Song, Marcus Naymik, Changiz Geula, Tamar D. Gefen, Elena Barbieri, Ignazio Stefano Piras, Marsel M. Mesulam, Matthew J. Huentelman
This study uses whole genome sequencing and AI to identify genetic variants associated with TDP43-Type-C neurodegeneration, finding novel links to FIG4, UBQLN2, INPP5A, and ANXA11.
medRxiv · Jan 25, 2025 · PreprintGenetic & Genomic Medicine