Zobrazeno 1 - 10
of 17
pro vyhledávání: '"Marta Vallverdú-Prats"'
Autor:
Joan Jiménez-Balado, Isabel Fernández-Pérez, Cristina Gallego-Fábrega, Uxue Lazcano, Carolina Soriano-Tárraga, Marta Vallverdú-Prats, Marina Mola-Caminal, Lucía Rey-Álvarez, Adrià Macias-Gómez, Antoni Suárez-Pérez, Eva Giralt-Steinhauer, Ana Rodríguez-Campello, Elisa Cuadrado-Godia, Ángel Ois, Manel Esteller, Jaume Roquer, Israel Fernández-Cadenas, Jordi Jiménez-Conde
Publikováno v:
Clinical Epigenetics, Vol 16, Iss 1, Pp 1-13 (2024)
Abstract Background and aims Stroke is the leading cause of adult-onset disability. Although clinical factors influence stroke outcome, there is a significant variability among individuals that may be attributed to genetics and epigenetics, including
Externí odkaz:
https://doaj.org/article/3f0b1b34c1ca432b9a498408bb37c80e
Autor:
Isabel Fernández-Pérez, Adrià Macias-Gómez, Antoni Suárez-Pérez, Marta Vallverdú-Prats, Eva Giralt-Steinhauer, Lidia Bojtos, Sílvia Susin-Calle, Ana Rodriguez-Campello, Daniel Guisado-Alonso, Joan Jimenez-Balado, Jordi Jiménez-Conde, Elisa Cuadrado-Godia
Publikováno v:
International Journal of Molecular Sciences, Vol 25, Iss 6, p 3433 (2024)
This comprehensive review explores the emerging field of epigenetics in intracranial aneurysm (IA) and aneurysmal subarachnoid hemorrhage (aSAH). Despite recent advancements, the high mortality of aSAH needs an understanding of its underlying pathoph
Externí odkaz:
https://doaj.org/article/e4ed3b664c5d41e0a966e9ea5aa2718f
Autor:
Marta Vallverdú-Prats, David Carreras, Guillermo J. Pérez, Oscar Campuzano, Ramon Brugada, Mireia Alcalde
Publikováno v:
International Journal of Molecular Sciences, Vol 24, Iss 3, p 2109 (2023)
Arrhythmogenic cardiomyopathy (ACM) is an inherited cardiac disease characterized by fibrofatty replacement of the myocardium. Deleterious variants in desmosomal genes are the main cause of ACM and lead to common and gene-specific molecular alteratio
Externí odkaz:
https://doaj.org/article/00070246939746d8a63c83b7f0f45a97
Autor:
Antonio Oliva, Simone Grassi, Vilma Pinchi, Francesca Cazzato, Mónica Coll, Mireia Alcalde, Marta Vallverdú-Prats, Alexandra Perez-Serra, Estefanía Martínez-Barrios, Sergi Cesar, Anna Iglesias, José Cruzalegui, Clara Hernández, Victoria Fiol, Elena Arbelo, Nuria Díez-Escuté, Vincenzo Arena, Josep Brugada, Georgia Sarquella-Brugada, Ramon Brugada, Oscar Campuzano
Publikováno v:
Journal of Clinical Medicine, Vol 11, Iss 15, p 4406 (2022)
Brugada syndrome (BrS) is classified as an inherited cardiac channelopathy attributed to dysfunctional ion channels and/or associated proteins in cardiomyocytes rather than to structural heart alterations. However, hearts of some BrS patients exhibit
Externí odkaz:
https://doaj.org/article/2e26d64701184a4d827f7ce88c7904c3
Autor:
Estefanía Martínez-Barrios, Georgia Sarquella-Brugada, Alexandra Pérez-Serra, Anna Fernández-Falgueras, Sergi Cesar, Mónica Coll, Marta Puigmulé, Anna Iglesias, Mireia Alcalde, Marta Vallverdú-Prats, Carles Ferrer-Costa, Bernat del Olmo, Ferran Picó, Laura López, Victoria Fiol, José Cruzalegui, Clara Hernández, Elena Arbelo, Simone Grassi, Antonio Oliva, Rocío Toro, Josep Brugada, Ramon Brugada, Oscar Campuzano
Publikováno v:
Journal of Personalized Medicine, Vol 12, Iss 2, p 241 (2022)
The titin gene (TTN) is associated with several diseases, including inherited arrhythmias. Most of these diagnoses are attributed to rare TTN variants encoding truncated forms, but missense variants represent a diagnostic challenge for clinical genet
Externí odkaz:
https://doaj.org/article/040e7e46f1ca410884d85f7a090c944e
Publikováno v:
International Journal of Molecular Sciences, Vol 23, Iss 2, p 656 (2022)
Arrhythmogenic cardiomyopathy is a heritable heart disease associated with desmosomal mutations, especially premature termination codon (PTC) variants. It is known that PTC triggers the nonsense-mediated decay (NMD) mechanism. It is also accepted tha
Externí odkaz:
https://doaj.org/article/e0d228269ff04c1a9f174b7ed90ed94f
Autor:
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
Publikováno v:
Journal of Personalized Medicine, Vol 11, Iss 3, p 162 (2021)
Genetic interpretation of rare variants associated with arrhythmogenic cardiomyopathy (ACM) is essential due to their diagnostic implications. New data may relabel previous variant classifications, but how often reanalysis is necessary remains undefi
Externí odkaz:
https://doaj.org/article/6e3d3402ba934ad89e212207e1975177
Role of microRNAs in arrhythmogenic cardiomyopathy: translation as biomarkers into clinical practice
Autor:
Mireia Alcalde, Rocío Toro, Fernando Bonet, José Córdoba-Caballero, Estefanía Martínez-Barrios, Juan Antonio Ranea, Marta Vallverdú-Prats, Ramon Brugada, Viviana Meraviglia, Milena Bellin, Georgia Sarquella-Brugada, Oscar Campuzano
Publikováno v:
Translational Research.
Autor:
Ramon Brugada, Marta Vallverdú-Prats, Georgia Sarquella-Brugada, Oscar Campuzano, Sergi Cesar, Josep Brugada, Mireia Alcalde, Elena Arbelo
Arrhythmogenic cardiomyopathy is a rare genetic entity characterized by progressive fibro-fatty replacement of myocardium leading to malignant arrhythmias, syncope, and sudden cardiac death. Mostly it affects the right ventricle, but cases have also
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ea2695fe7ad414f1009656fae8f48619
https://doi.org/10.5772/intechopen.95332
https://doi.org/10.5772/intechopen.95332
Autor:
Mireia Alcalde, Rocío Toro, Elena Arbelo, Ferran Picó, Bernat del Olmo, Oscar Campuzano, Laura Lopez, Ana García-Álvarez, Paloma Jordà, Anna Fernandez-Falgueras, Ramon Brugada, Marta Vallverdú-Prats, Georgia Sarquella-Brugada, Simone Grassi, Victoria Fiol, Sergi Cesar, Marta Puigmulé, Josep Brugada, Coloma Tiron de Llano, Alexandra Pérez-Serra, Monica Coll, Carles Ferrer-Costa, Antonio Oliva, Anna Iglesias
Publikováno v:
Human Genetics, 2021, vol. undef, num. undef, p. undef
Articles publicats (D-CM)
Sarquella Brugada, Geòrgia Fernández Falgueras, Anna Cesar, Sergi Arbelo, Elena Coll, Monica Perez-Serra, Alexandra Puigmulé, Marta Iglesias, Anna Alcalde Masegu, Mireia Vallverdú-Prats, Marta Fiol, Victoria Ferrer Costa, Carles Olmo, Bernat del Picó, Ferran López, Laura García Álvarez, Ana Jordà, Paloma Tirón de Llano, Coloma Toro, Rocío Grassi, Simone Oliva, Antonio Brugada Terradellas, Josep Brugada, Ramon Campuzano Larrea, Oscar 2021 Clinical impact of rare variants associated with inherited channelopathies: a 5-year update Human Genetics undef undef undef
DUGiDocs – Universitat de Girona
instname
HUMAN GENETICS
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Articles publicats (D-CM)
Sarquella Brugada, Geòrgia Fernández Falgueras, Anna Cesar, Sergi Arbelo, Elena Coll, Monica Perez-Serra, Alexandra Puigmulé, Marta Iglesias, Anna Alcalde Masegu, Mireia Vallverdú-Prats, Marta Fiol, Victoria Ferrer Costa, Carles Olmo, Bernat del Picó, Ferran López, Laura García Álvarez, Ana Jordà, Paloma Tirón de Llano, Coloma Toro, Rocío Grassi, Simone Oliva, Antonio Brugada Terradellas, Josep Brugada, Ramon Campuzano Larrea, Oscar 2021 Clinical impact of rare variants associated with inherited channelopathies: a 5-year update Human Genetics undef undef undef
DUGiDocs – Universitat de Girona
instname
HUMAN GENETICS
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
A proper interpretation of the pathogenicity of rare variants is crucial before clinical translation. Ongoing addition of new data may modify previous variant classifications; however, how often a reanalysis is necessary remains undefined. We aimed t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::de0ecc3a5e5484647d1900791b1ba22f
http://hdl.handle.net/10256/19962
http://hdl.handle.net/10256/19962