In this study, we aimed to (i) define the frequency of REs in NIPA1, NOP56, and NOTCH2NLC in a large cohort of Italian ALS cases; and (ii) discover the potential associations between phenotypes and the size of REs within NIPA1, NOP56, and NOTCH2NLC genes. The gene discussed is NIPA1; the disease is amyotrophic lateral sclerosis.