Browsing by Author "Antonell Boixader, Anna"

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  • Gelpi, Ellen; Aldecoa, Iban; López Villegas, Dolores; Abellan-Vidal, María Teresa; Mercadel Fañanas, Pilar; Fortea, Juan; Ribosa, Roser; Morenas-Rodriguez, Estrella; Gómez Anson, Beatriz; Molina Porcel, Laura; Ximelis, Teresa; Borrego-Ecija, Sergi; Antonell Boixader, Anna; Rovelet Lecrux, Anne; Klotz, Sigrid; Andrés Benito, Pol; Sánchez Valle, Raquel; Ferrer, Isidre (Wiley, 2021)
    We observed atypical astrocytic pTDP-43 pathology in astroglial predominant tauopathy.
  • Antonell Boixader, Anna (Universitat Pompeu Fabra, 2011-04-12)
    En aquest treball es presenta l'evolució molecular i estudi funcional de gens localitzats a les duplicacions segmentàries de la regió 7q11.23, implicada en la Síndrome de Williams-Beuren (SWB). S'ha datat l'aparició ...
  • Borrego-Ecija, Sergi; Antonell Boixader, Anna; Puig-Butille, Joan Anton; Pericot, Inmaculada; Prat-Bravo, Carme; Abellan-Vidal, María Teresa; Mallada, Javier; Olives, Jaume; Falgas, Neus; Oliva, Rafael; Lladó, Albert; Sanchez-Valle, Raquel (American Neurological Association, 2019)
    Mutations in the MAPT gene cause frontotemporal dementia with tau deposits. We report the novel p.P397S MAPT variant in eight subjects from five apparently nonrelated families suffering from frontotemporal dementia with ...

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