De novo truncating FUS gene mutation as a cause of sporadic amyotrophic lateral sclerosis

Mutations in the gene encoding fused in sarcoma (FUS) were recently identified as a novel cause of amyotrophic lateral sclerosis (ALS), emphasizing the genetic heterogeneity of ALS. We sequenced the genes encoding superoxide dismutase (SOD1), TAR DNA‐binding protein 43 (TARDBP) and FUS in 99 sporadi...

Ausführliche Beschreibung