Characterizing SOD1 mutations in Spain. The impact of genotype, age, and sex in the natural history of the disease.
Juan Francisco Vázquez CostaDaniel Borrego-HernándezCarmen ParadasMaría Teresa Gómez-CaravacaRicardo Rojas-GarciaLuis VaronaMónica PovedanoTania García-SobrinoIvonne Jericó PascualAntonio GutiérrezJavier RianchoJanina Turon-SansAbdelilah AssialiouiJordi Pérez TurTeresa SevillaJesús Esteban PérezAlberto García-Redondonull nullPublished in: European journal of neurology (2022)
These data may help to evaluate the efficacy of SOD1 targeted treatments, and to expand the number of patients that might benefit from these treatments.