Visualitza per autoria "Muchart, Jordi"

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  • CACNA1A mutations causing early onset ataxia: profiling clinical, dysmorphic and structural-functional findings
    Martínez Monseny, Antonio Federico; Edo, Albert; Casas Alba, Dídac; Izquierdo Serra, Mercè; Bolasell, Mercè; Conejo, David; Martorell, Loreto; Muchart, Jordi; Carrera, Laura; Ortez, Carlos; Nascimento, Andrés; Oliva Miguel, Baldomero; Fernández-Fernández, José Manuel, 1967-; Serrano Masip, Mercedes (MDPI, 2021)
    The CACNA1A gene encodes the pore-forming α1A subunit of the voltage-gated CaV2.1 Ca2+ channel, essential in neurotransmission, especially in Purkinje cells. Mutations in CACNA1A result in great clinical heterogeneity with ...
  • Early-onset severe spinocerebellar ataxia 42 with neurodevelopmental deficits (SCA42ND): Case report, pharmacological trial, and literature review
    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. (Wiley, 2021)
    Early-onset severe spinocerebellar ataxia 42 with neurodevelopmental deficits (SCA42ND, MIM#604065) is an ultrarare autosomal dominant syndrome related to de novo CACNA1G gain-of-function pathogenic variants. All patients ...
  • Stroke-like episodes and cerebellar syndrome in phosphomannomutase deficiency (PMM2-CDG): Evidence for hypoglycosylation-driven channelopathy
    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. (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 ...
  • Trends and patterns in the use of computed tomography in children and young adults in Catalonia - results from the EPI-CT study.
    Bosch de Basea i Gómez, Magda, 1982-; Salotti, Jane A.; Pearce, Mark S.; Muchart, Jordi; Riera, Luis; Barber, Ignasi; Pedraza, Salvador; Pardina, Marina; Capdevila, Antoni; Espinosa Díaz, Ana; Cardis, Elisabeth (Springer, 2016)
    BACKGROUND: Although there are undeniable diagnostic benefits of CT scanning, its increasing use in paediatric radiology has become a topic of concern regarding patient radioprotection. OBJECTIVE: To assess the rate of CT ...

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