Identification of co-segregating RUBCN and KANK1 mutations in a UK amyotrophic lateral sclerosis kindred
Midhat Salman, Intan Barul Akma Bakhtiar, Alex G. Morris, Alexandra Rother, Simon D. Topp, Christopher E. Shaw, Bradley N. Smith, Jacqueline de Belleroche
The paper identifies co-segregating RUBCN and KANK1 mutations in a UK ALS family, showing their association with disease and functional impact on cellular processes.
medRxiv · Jul 23, 2025 · PreprintGenetic & Genomic Medicine