Publications by authors named "Uday Shankar Evani"
Article Synopsis
- - The study aimed to find new genes linked to ALS by conducting a genome-wide association study with over 20,000 ALS patients and nearly 60,000 controls, as well as a rare variant analysis comparing familial ALS cases to controls.
- - Researchers identified KIF5A as a novel gene associated with ALS, noting that mutations in different regions of KIF5A are responsible for other neurodegenerative diseases, such as hereditary spastic paraplegia and Charcot-Marie-Tooth disease.
- - Interestingly, ALS patients with certain loss-of-function mutations in KIF5A had longer survival compared to typical cases, suggesting a complex role of KIF5A mutations in ALS pathology and emphasizing the importance of cytoskeletal
