Stop-gain mutations in PKP2 are associated with a later age of onset of arrhythmogenic right ventricular cardiomyopathy.

by Mireia Alcalde, Oscar Campuzano, Paola Berne, Pablo García-Pavía, Ada Doltra, Elena Arbelo, Georgia Sarquella-Brugada, Anna Iglesias, Luis Alonso-Pulpon, Josep Brugada, Ramon Brugada
Published 2014-01-01

Personalized Interpretation and Clinical Translation of Genetic Variants Associated With Cardiomyopathies

by Oscar Campuzano, Oscar Campuzano, Oscar Campuzano, Oscar Campuzano, Anna Fernandez-Falgueras, Georgia Sarquella-Brugada, Georgia Sarquella-Brugada, Sergi Cesar, Elena Arbelo, Elena Arbelo, Ana García-Álvarez, Paloma Jordà, Monica Coll, Victoria Fiol, Anna Iglesias, Anna Iglesias, Alexandra Perez-Serra, Alexandra Perez-Serra, Jesus Mates, Bernat del Olmo, Carles Ferrer, Mireia Alcalde, Mireia Alcalde, Marta Puigmulé, Irene Mademont-Soler, Ferran Pico, Laura Lopez, Coloma Tiron, Josep Brugada, Josep Brugada, Josep Brugada, Ramon Brugada, Ramon Brugada, Ramon Brugada, Ramon Brugada
Published 2019-05-01

Rare Variants Associated with Arrhythmogenic Cardiomyopathy: Reclassification Five Years Later

by Marta Vallverdú-Prats, Mireia Alcalde, Georgia Sarquella-Brugada, Sergi Cesar, Elena Arbelo, Anna Fernandez-Falgueras, Mónica Coll, Alexandra Pérez-Serra, Marta Puigmulé, Anna Iglesias, Victoria Fiol, Carles Ferrer-Costa, Bernat del Olmo, Ferran Picó, Laura Lopez, Paloma Jordà, Ana García-Álvarez, Coloma Tirón de Llano, Rocío Toro, Simone Grassi, Antonio Oliva, Josep Brugada, Ramon Brugada, Oscar Campuzano
Published 2021-02-01