Found: 8

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  • Discerning the Ambiguous Role of Missense TTN Variants in Inherited Arrhythmogenic Syndromes.

    Published in:
    Journal of Personalized Medicine, 2022, v. 12, n. 2, p. N.PAG, doi. 10.3390/jpm12020241
    By:
    • Martínez-Barrios, Estefanía;
    • Sarquella-Brugada, Georgia;
    • Pérez-Serra, Alexandra;
    • Fernández-Falgueras, Anna;
    • Cesar, Sergi;
    • Coll, Mónica;
    • Puigmulé, Marta;
    • Iglesias, Anna;
    • Alcalde, Mireia;
    • Vallverdú-Prats, Marta;
    • Ferrer-Costa, Carles;
    • del Olmo, Bernat;
    • Picó, Ferran;
    • López, Laura;
    • Fiol, Victoria;
    • Cruzalegui, José;
    • Hernández, Clara;
    • Arbelo, Elena;
    • Grassi, Simone;
    • Oliva, Antonio
    Publication type:
    Article

  • Rare Variants Associated with Arrhythmogenic Cardiomyopathy: Reclassification Five Years Later.

    Published in:
    Journal of Personalized Medicine, 2021, v. 11, n. 3, p. 162, doi. 10.3390/jpm11030162
    By:
    • Vallverdú-Prats, Marta;
    • Alcalde, Mireia;
    • Sarquella-Brugada, Georgia;
    • Cesar, Sergi;
    • Arbelo, Elena;
    • Fernandez-Falgueras, Anna;
    • Coll, Mónica;
    • Pérez-Serra, Alexandra;
    • Puigmulé, Marta;
    • Iglesias, Anna;
    • Fiol, Victoria;
    • Ferrer-Costa, Carles;
    • del Olmo, Bernat;
    • Picó, Ferran;
    • Lopez, Laura;
    • Jordà, Paloma;
    • García-Álvarez, Ana;
    • Tirón de Llano, Coloma;
    • Toro, Rocío;
    • Grassi, Simone
    Publication type:
    Article

  • DNA methylation and stroke prognosis: an epigenome-wide association study.

    Published in:
    Clinical Epigenetics, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s13148-024-01690-2
    By:
    • Jiménez-Balado, Joan;
    • Fernández-Pérez, Isabel;
    • Gallego-Fábrega, Cristina;
    • Lazcano, Uxue;
    • Soriano-Tárraga, Carolina;
    • Vallverdú-Prats, Marta;
    • Mola-Caminal, Marina;
    • Rey-Álvarez, Lucía;
    • Macias-Gómez, Adrià;
    • Suárez-Pérez, Antoni;
    • Giralt-Steinhauer, Eva;
    • Rodríguez-Campello, Ana;
    • Cuadrado-Godia, Elisa;
    • Ois, Ángel;
    • Esteller, Manel;
    • Roquer, Jaume;
    • Fernández-Cadenas, Israel;
    • Jiménez-Conde, Jordi
    Publication type:
    Article

  • Clinical impact of rare variants associated with inherited channelopathies: a 5-year update.

    Published in:
    Human Genetics, 2022, v. 141, n. 10, p. 1579, doi. 10.1007/s00439-021-02370-4
    By:
    • Sarquella-Brugada, Georgia;
    • Fernandez-Falgueras, Anna;
    • Cesar, Sergi;
    • Arbelo, Elena;
    • Coll, Mónica;
    • Perez-Serra, Alexandra;
    • Puigmulé, Marta;
    • Iglesias, Anna;
    • Alcalde, Mireia;
    • Vallverdú-Prats, Marta;
    • Fiol, Victoria;
    • Ferrer-Costa, Carles;
    • del Olmo, Bernat;
    • Picó, Ferran;
    • Lopez, Laura;
    • García-Alvarez, Ana;
    • Jordà, Paloma;
    • Tiron de Llano, Coloma;
    • Toro, Rocío;
    • Grassi, Simone
    Publication type:
    Article

  • Structural Heart Alterations in Brugada Syndrome: Is it Really a Channelopathy? A Systematic Review.

    Published in:
    Journal of Clinical Medicine, 2022, v. 11, n. 15, p. 4406, doi. 10.3390/jcm11154406
    By:
    • Oliva, Antonio;
    • Grassi, Simone;
    • Pinchi, Vilma;
    • Cazzato, Francesca;
    • Coll, Mónica;
    • Alcalde, Mireia;
    • Vallverdú-Prats, Marta;
    • Perez-Serra, Alexandra;
    • Martínez-Barrios, Estefanía;
    • Cesar, Sergi;
    • Iglesias, Anna;
    • Cruzalegui, José;
    • Hernández, Clara;
    • Fiol, Victoria;
    • Arbelo, Elena;
    • Díez-Escuté, Nuria;
    • Arena, Vincenzo;
    • Brugada, Josep;
    • Sarquella-Brugada, Georgia;
    • Brugada, Ramon
    Publication type:
    Article

  • The Role of Epigenetics in Brain Aneurysm and Subarachnoid Hemorrhage: A Comprehensive Review.

    Published in:
    International Journal of Molecular Sciences, 2024, v. 25, n. 6, p. 3433, doi. 10.3390/ijms25063433
    By:
    • Fernández-Pérez, Isabel;
    • Macias-Gómez, Adrià;
    • Suárez-Pérez, Antoni;
    • Vallverdú-Prats, Marta;
    • Giralt-Steinhauer, Eva;
    • Bojtos, Lidia;
    • Susin-Calle, Sílvia;
    • Rodriguez-Campello, Ana;
    • Guisado-Alonso, Daniel;
    • Jimenez-Balado, Joan;
    • Jiménez-Conde, Jordi;
    • Cuadrado-Godia, Elisa
    Publication type:
    Article

  • Alterations in Calcium Handling Are a Common Feature in an Arrhythmogenic Cardiomyopathy Cell Model Triggered by Desmosome Genes Loss.

    Published in:
    International Journal of Molecular Sciences, 2023, v. 24, n. 3, p. 2109, doi. 10.3390/ijms24032109
    By:
    • Vallverdú-Prats, Marta;
    • Carreras, David;
    • Pérez, Guillermo J.;
    • Campuzano, Oscar;
    • Brugada, Ramon;
    • Alcalde, Mireia
    Publication type:
    Article

  • Premature Termination Codon in 5′ Region of Desmoplakin and Plakoglobin Genes May Escape Nonsense-Mediated Decay through the Reinitiation of Translation.

    Published in:
    International Journal of Molecular Sciences, 2022, v. 23, n. 2, p. 656, doi. 10.3390/ijms23020656
    By:
    • Vallverdú-Prats, Marta;
    • Brugada, Ramon;
    • Alcalde, Mireia
    Publication type:
    Article