SQSTM1 MUTATIONS IN AMYOTROPHIC LATERAL SCLEROSIS

摘要

Provided herein is technology relating to diagnosing, monitoring, and treating disease and particularly, but not exclusively, to methods, compositions, and kits for diagnosing, monitoring, and treating amyotrophic lateral sclerosis by detecting and identifying mutations in the gene SQSTM1 and providing therapies by targeting aberrant biological functions related to mutant forms of SQSTM1.