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Browsing INEU by Subject "Genetics"

Browsing INEU by Subject "Genetics"

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  • 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; Sevlever, Gustavo Emilio; Allegri, Ricardo Francisco; Turjanski, Adrian G. (Elsevier, 2020-08)
    Introduction: 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 ...
  • A novel mutation in PSEN1 (p.T119I) in an Argentine family with early- and late-onset Alzheimer's disease 
    Itzcovich, Tatiana; Chrem Méndez, Patricio Alexis; Vázquez, Silvia; Barbieri-Kennedy, Micaela; Niikado, Matías; Martinetto, Horacio; Allegri, Ricardo Francisco; Sevlever, Gustavo Emilio; Surace, Ezequiel Ignacio (Elsevier, 2020-01)
    Mutations inPSEN1are the most common cause of early-onset Alzheimer’s disease (AD). In this article,we present an Argentine family with autosomal dominant early- and late-onset AD. The proband and 6family members were ...

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