Browsing by Author "Carrera, Laura"

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  • 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 ...
  • Codina, Anna; Roldán, Mònica; Natera de Benito, Daniel; Ortez, Carlos; Planas, Robert; Matalonga, Leslie; Cuadras, Daniel; Carrera, Laura; Exposito, Jesica; Marquez, Jesus; Jimenez-Mallebrera, Cecilia; Porta, Josep M.; Nascimento, Andrés; Jou-Muñoz, Cristina (MDPI, 2023)
    Several clinical trials are working on drug development for Duchenne and Becker muscular dystrophy (DMD and BMD) treatment, and, since the expected increase in dystrophin is relatively subtle, high-sensitivity quantification ...

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