Repositorio Dspace

ListarINEU por tema "Presenilina-1"

ListarINEU por tema "Presenilina-1"

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  • Generation of a human induced pluripotent stem cell line from a familial Alzheimer's disease PSEN1 T119I patient 
    Isaja, Luciana; Rodríguez Varela, María Soledad; Marazita, Mariela Claudia; Mucci, Sofía; Itzcovich, Tatiana; Chrem Méndez, Patricio Alexis; Niikado, Matías; Ferriol Laffouillere, Sofía Luján; Allegri, Ricardo Francisco; Martinetto, Horacio; Sevlever, Gustavo Emilio; Scassa, María Élida; Surace, Ezequiel Ignacio; Romorini, Leonardo (Elsevier, 2021-04-05)
    Human induced pluripotent stem cells (hiPSC) line FLENIi001-A was reprogrammed from dermal fibroblasts using the lentiviral-hSTEMCCA-loxP vector. Fibroblasts were obtained from a skin biopsy of a 72-year-old Caucasian male ...
  • 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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