Now showing items 1-3 of 3

    • Cryptic splice-altering variants in MYBPC3 are a prevalent cause of hypertrophic cardiomyopathy 

      Lopes, Luis R.; Barbosa, Pedro; Torrado, Mario; Quinn, Ellie; Merino, Ana; Ocha, Juan Pablo; Jager, Joanna; Futema, Marta; Carmo-Fonseca, María; Montserrat, Lorenzo; Syrris, Petros; Elliott, Perry M. (American Heart Association, 2020-05-12)
    • 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 ...
    • Severe Heart Failure in the Setting of Inflammatory Cardiomyopathy With Likely Pathogenic Titin Variant 

      Ochoa Folmer, Juan Pablo; Mueller, Melina; Zwinger, Lilli; Klaassen, Sabine; Poller, Wolfgang; Montserrat Iglesias, Lorenzo; Klingel, Karine; Landmesser, Ulf; Heidecker, Bettina (Elsevier, 2022-04)
      No abstract available