• A novel mutation in PSEN1 (p.Arg41Ser) in an Argentinian woman with early onset Parkinsonism 

      Gatto, Emilia M; Rojas, Galeno J; Nemirovsky, Sergio I.; Da Prat, Gustavo; Persi, Gabriel; Cesarini, Martin; Etcheverry, Jose L; Gonzalez Rojas, Natalia; Parisi, Virginia; Cordoba, Marta (Corporación Universidad de la Costa, 2020)
      Mutations in presenilin-1 (PSEN1) account for the majority of cases of familial autosomal dominant early-onset Alzheimer's disease (AD) as well as in sporadic forms. Atypical presentations are reported including extrapyramidal ...