Listar GI- GRINCAR - Artigos por autor "Barriales-Villa, Roberto"

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    • Emery–Dreifuss muscular dystrophy Type 1 is associated with a high risk of malignant ventricular arrhythmias and end-stage heart failure 

      Martínez-Veira, Cristina; Cannie, Douglas E.; Syrris, Petros; Protonotarios, Alexandros; Bakalakos, Athanasios; Pruny, Jean-François; Ditaranto, Rafaello; Larrañaga-Moreira, José María; Medo, Kristen; Bermúdez-Jiménez, Francisco J.; Ben Yaou, Rabah; Leturcq, France; Robles-Mezcua, Ainhoa; Marini-Betolo, Chiara; Cabrera, Eva; Reuter, Chloe; Limeres-Freire, Javier; Rodríguez-Palomares, José Fernando; Mestroni, Luisa; Taylor, Matthew R. G.; Parikh, Victoria N.; Ashley, Euan A.; Barriales-Villa, Roberto; Jiménez-Jáimez, Juan; García-Pavía, Pablo; Charron, Philippe; Biagini, Elena; García-Pinilla, José Manuel; Bourke, John; Savvatis, Konstantinos; Wahbi, Karim; Elliott, Perry M. (Oxford Academic, 2023-08-28)
      [Abstract] Emery–Dreifuss muscular dystrophy (EDMD) is caused by variants in EMD (EDMD1) and LMNA (EDMD2). Cardiac conduction defects and atrial arrhythmia are common to both, but LMNA variants also cause end-stage heart ...

    • Protein Haploinsufficiency Drivers Identify MYBPC3 Variants That Cause Hypertrophic Cardiomyopathy 

      Suay-Corredera, Carmen; Pricolo, María Rosaria; Herrero-Galán, Elías; Velázquez-Carreras, Diana; Sánchez-Ortiz, David; García-Giustiniani, Diego; Delgado, Javier; Galano-Frutos, Juan José; García-Cebollada, Helena; Vilches, Silvia; Domínguez, Fernando; Sabater Molina, María; Barriales-Villa, Roberto; Frisso, Giulia; Sancho, Javier; Serrano, Luis; García-Pavía, Pablo; Monserrat, Lorenzo; Alegre-Cebollada, Jorge (Elsevier, 2021-06-05)
      [Abstract] Hypertrophic cardiomyopathy (HCM) is the most common inherited cardiac disease. Variants in MYBPC3, the gene encoding cardiac myosin-binding protein C (cMyBP-C), are the leading cause of HCM. However, the ...

    • Screening Mutations in Myosin Binding Protein C3 Gene in a Cohort of Patients With Hypertrophic Cardiomyopathy 

      Rodríguez García, María Isabel; Monserrat, Lorenzo; Ortiz, Martín; Fernández, Xusto; Cazón, Laura; Núñez, Lucía; Barriales-Villa, Roberto; Maneiro, Emilia; Veira, Elena; Castro-Beiras, Alfonso; Hermida-Prieto, Manuel (BioMed Central, 2010)
      [Abstract] Background. MyBPC3 mutations are amongst the most frequent causes of hypertrophic cardiomyopathy, however, its prevalence varies between populations. They have been associated with mild and late onset disease ...