Welcome to the UPF Digital Repository

Browsing by Author "Martínez Monseny, Antonio Federico"

Browsing by Author "Martínez Monseny, Antonio Federico"

Sort by: Order: Results:

  • Urreizti, Roser; López Martín, Estrella; Martínez Monseny, Antonio Federico; Pujadas, Montse; Castilla-Vallmanya, Laura; Pérez Jurado, Luis Alberto; Serrano, Mercedes L.; Natera de Benito, Daniel; Martínez Delgado, Beatriz; Posada de la Paz, Manuel; Alonso, Javier; Marín Reina, Purificación; O'Callaghan, Mar; Grinberg, Daniel; Bermejo Sánchez, Eva; Balcells, Susana (BioMed Central, 2020)
    Background: Pathogenic variants of the lysine acetyltransferase 6A or KAT6A gene are associated with a newly identified neurodevelopmental disorder characterized mainly by intellectual disability of variable severity and ...
  • Izquierdo Serra, Mercè; Martínez Monseny, Antonio Federico; López, Laura; Carrillo García, Julia; Edo, Albert; Ortigoza Escobar, Juan Darío; García, Óscar; Cancho Candela, Ramón; Carrasco Marina, Ma Llanos; Gutiérrez-Solana, Luis González; Cuadras, Daniel; Muchart, Jordi; Montero, Raquel; Artuch, Rafael; Pérez Cerdá, Celia; Pérez, Belén; Pérez Dueñas, Belén; Macaya, Alfons; Fernández-Fernández, José Manuel, 1967-; Serrano, Mercedes L. (MDPI, 2018)
    Stroke-like episodes (SLE) occur in phosphomannomutase deficiency (PMM2-CDG), and may complicate the course of channelopathies related to Familial Hemiplegic Migraine (FHM) caused by mutations in CACNA1A (encoding CaV2.1 ...