Browsing by Author "Pérez, Belén"

Sort by: Order: Results:

  • Jiménez Altayó, Francesc; Ortiz Romero, Paula, 1994-; Puertas Umbert, Lídia; Dantas, Ana Paula; Pérez, Belén; Vila, Elisabet; D'Ocon, Pilar; Campuzano Uceda, María Victoria (Nature Research, 2020)
    Williams-Beuren syndrome (WBS) is a rare disorder caused by a heterozygous deletion of 26-28 contiguous genes that affects the brain and cardiovascular system. Here, we investigated whether WBS affects aortic structure 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 ...