Zobrazeno 1 - 10
of 214
pro vyhledávání: '"Georgia Sarquella"'
Autor:
Fernando de Frutos, Juan Pablo Ochoa, Gregory Webster, Mark Jansen, Paloma Remior, Torsten B. Rasmussen, Maria Sabater‐Molina, Roberto Barriales‐Villa, Francesca Girolami, Sergi Cesar, M. Eugenia Fuentes‐Cañamero, Reyes Alvarez García‐Rovés, Karim Wahbi, Javier Limeres, Milos Kubanek, Martijn G. Slieker, Georgia Sarquella‐Brugada, Dominic J. Abrams, Dennis Dooijes, Fernando Domínguez, Pablo Garcia‐Pavia
Publikováno v:
Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, Vol 13, Iss 21 (2024)
Background Although genetic variants in MYH7 are the most frequent cause of pediatric genetic dilated cardiomyopathy (DCM), there are no studies available describing this entity. We sought to describe clinical features, analyze variant location, and
Externí odkaz:
https://doaj.org/article/59e75968bc6945bab7fc180c951c9b2d
Autor:
Elena Arbelo, Gonzalo Grazioli, Carles Díez-López, Oscar Campuzano, Georgia Sarquella-Brugada, Sergi Cesar, Estefanía Martínez-Barrios, Rocío Toro, José Cruzalegui, Andrea Greco, Nuria Díez-Escuté, Patricia Cerralbo, Fredy Chipa, Norma Balderrábano
Publikováno v:
BMJ Open Sport & Exercise Medicine, Vol 10, Iss 3 (2024)
Sudden cardiac death is a rare but socially devastating event, especially if occurs in young people. Usually, this unexpected lethal event occurs during or just after exercise. One of the leading causes of sudden cardiac death is inherited arrhythmog
Externí odkaz:
https://doaj.org/article/d98a2bce5c9d4002abe937027884e2b4
Autor:
Estefanía Martínez-Barrios, Andrea Greco, José Cruzalegui, Sergi Cesar, Nuria Díez-Escuté, Patricia Cerralbo, Fredy Chipa, Irene Zschaeck, Miguel Fogaça-da-Mata, Carles Díez-López, Elena Arbelo, Simone Grassi, Antonio Oliva, Rocío Toro, Georgia Sarquella-Brugada, Oscar Campuzano
Publikováno v:
Biomedicines, Vol 12, Iss 11, p 2553 (2024)
Background/Objectives: Inherited arrhythmogenic syndromes comprise a heterogenic group of genetic entities that lead to malignant arrhythmias and sudden cardiac death. Genetic testing has become crucial to understand the disease etiology and allow fo
Externí odkaz:
https://doaj.org/article/0a98684aed9d431db97b0bf7ebfde84f
Autor:
Fernando Bonet, Oscar Campuzano, José Córdoba-Caballero, Mireia Alcalde, Georgia Sarquella-Brugada, Aitana Braza-Boïls, Ramon Brugada, Francisco Hernández-Torres, Maribel Quezada-Feijoo, Monica Ramos, Alipio Mangas, Juan A. G. Ranea, Rocío Toro
Publikováno v:
Biomedicines, Vol 12, Iss 8, p 1807 (2024)
Arrhythmogenic cardiomyopathy is an inherited entity characterized by irregular cell–cell adhesion, cardiomyocyte death and fibro-fatty replacement of ventricular myocytes, leading to malignant ventricular arrythmias, contractile dysfunction and su
Externí odkaz:
https://doaj.org/article/945d2dc181984d7480a2a40bb22752e5
Publikováno v:
Cardiogenetics, Vol 13, Iss 4, Pp 173-174 (2023)
Inherited arrhythmogenic syndromes (IASs) are a heterogeneous group of rare cardiac entities of genetic origin [...]
Externí odkaz:
https://doaj.org/article/d893a825b96a4447bcb9262593e0a905
Autor:
Nuria Díez-Escuté, Elena Arbelo, Estefanía Martínez-Barrios, Patricia Cerralbo, Sergi Cesar, José Cruzalegui, Freddy Chipa, Victoria Fiol, Irene Zschaeck, Clara Hernández, Oscar Campuzano, Georgia Sarquella-Brugada
Publikováno v:
Frontiers in Cardiovascular Medicine, Vol 10 (2023)
Long QT Syndrome (LQTS) is a rare, inherited channelopathy characterized by cardiac repolarization dysfunction, leading to a prolonged rate-corrected QT interval in patients who are at risk for malignant ventricular tachyarrhythmias, syncope, and eve
Externí odkaz:
https://doaj.org/article/7524962dc80d40fa8800fb7b09ba1199
Autor:
Sergi Cesar, Monica Coll, Victoria Fiol, Anna Fernandez-Falgueras, Jose Cruzalegui, Anna Iglesias, Isaac Moll, Alexandra Perez-Serra, Estefanía Martínez-Barrios, Carles Ferrer-Costa, Bernat del Olmo, Marta Puigmulè, Mireia Alcalde, Laura Lopez, Ferran Pico, Rubén Berrueco, Josep Brugada, Irene Zschaeck, Daniel Natera-de Benito, Laura Carrera-García, Jessica Exposito-Escudero, Carlos Ortez, Andrés Nascimento, Ramon Brugada, Georgia Sarquella-Brugada, Oscar Campuzano
Publikováno v:
Frontiers in Genetics, Vol 14 (2023)
Background: Laminopathies are caused by rare alterations in LMNA, leading to a wide clinical spectrum. Though muscular dystrophy begins at early ages, disease progression is different in each patient. We investigated variability in laminopathy phenot
Externí odkaz:
https://doaj.org/article/2e963c1eaf3740048e1406c93f7e7001
Autor:
Sergi Cesar, Oscar Campuzano, Jose Cruzalegui, Victori Fiol, Isaac Moll, Estefania Martínez-Barrios, Irene Zschaeck, Daniel Natera-de Benito, Carlos Ortez, Laura Carrera, Jessica Expósito, Rubén Berrueco, Carles Bautista-Rodriguez, Ivana Dabaj, Marta Gómez García-de-la-Banda, Susana Quijano-Roy, Josep Brugada, Andrés Nascimento, Georgia Sarquella-Brugada
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 11 (2023)
Introduction: LMNA-related muscular dystrophy is a rare entity that produce “laminopathies” such as Emery–Dreifuss muscular dystrophy (EDMD), limb–girdle muscular dystrophy type 1B (LGMD1B), and LMNA-related congenital muscular dystrophy (L-C
Externí odkaz:
https://doaj.org/article/26f04871fe514653a1c9404311bbfe4d
Autor:
Estefanía Martínez-Barrios, Simone Grassi, María Brión, Rocío Toro, Sergi Cesar, José Cruzalegui, Mònica Coll, Mireia Alcalde, Ramon Brugada, Andrea Greco, María Luisa Ortega-Sánchez, Eneko Barberia, Antonio Oliva, Georgia Sarquella-Brugada, Oscar Campuzano
Publikováno v:
Frontiers in Medicine, Vol 10 (2023)
In the forensic medicine field, molecular autopsy is the post-mortem genetic analysis performed to attempt to unravel the cause of decease in cases remaining unexplained after a comprehensive forensic autopsy. This negative autopsy, classified as neg
Externí odkaz:
https://doaj.org/article/82adbe2de4bf4080a5976d662351f2d2
Autor:
Rebecca Martínez-Moreno, David Carreras, Begoña Aran, Bernd Kuebler, Georgia Sarquella-Brugada, Ramon Brugada, Guillermo J. Pérez, Fabiana S. Scornik, Elisabet Selga
Publikováno v:
Stem Cell Research, Vol 63, Iss , Pp 102847- (2022)
Patient-derived induced pluripotent stem cells (iPSC) are a valuable approach to model cardiovascular diseases. We nucleofected non-integrating episomal vectors in skin fibroblasts of three family members carrying a single nucleotide variant (SNV) in
Externí odkaz:
https://doaj.org/article/f7e87c024cea456eb75562679b476f75