Browsing by Author "Serrano, Mercedes L."
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Item Open Access Early-onset severe spinocerebellar ataxia 42 with neurodevelopmental deficits (SCA42ND): Case report, pharmacological trial, and literature review(Wiley, 2021) Casas Alba, Dídac; López-Sala, Laura; Pérez-Ordóñez, Marta; Mari-Vico, Rosanna; Bolasell, Mercè; Martínez Monseny, Antonio Federico; Muchart, Jordi; Fernández-Fernández, José Manuel, 1967-; Martorell, Loreto; Serrano, Mercedes L.
Item Open Access Five new cases of syndromic intellectual disability due to KAT6A mutations: widening the molecular and clinical spectrum(BioMed Central, 2020) 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
Item Open Access Rare CACNA1A mutations leading to congenital ataxia(Springer, 2020) Izquierdo Serra, Mercè; Fernández-Fernández, José Manuel, 1967-; Serrano, Mercedes L.
Item Open Access Stroke-like episodes and cerebellar syndrome in phosphomannomutase deficiency (PMM2-CDG): Evidence for hypoglycosylation-driven channelopathy(MDPI, 2018) Izquierdo Serra, Mercè; Martínez Monseny, Antonio Federico; López, Laura; Carrillo García, Julia, 1993-; 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.