C9orf72 and amyotrophic lateral sclerosis: To identify known genetic alterations associated with MND, all 107 patients underwent parallel repeat analysis by ONT long-read sequencing of the ALS-related C9orf72 repeat array and the AR locus associated with spinal and bulbar muscular atrophy (SBMA/Kennedy’s disease) as well as NGS sequencing of MND-related genes (Fig. 1, Supplementary Table 3) [20].