TARDBP and amyotrophic lateral sclerosis: In TARDBP, the most commonly reported missense mutations are A382T and M337V, and some of the most well-studied mutations are A315T, Q331K, M337V, D169G, G294A/V, Q343R, etc. Moreover, ALS cases carrying the A382T and G295S mutation of TARDBP and the C9orf72 repeat expansion shared distinct haplotypes across these loci in Sardinia [28].