Zobrazeno 1 - 10
of 46
pro vyhledávání: '"Mireia Alcalde"'
Autor:
Irene Mademont‐Soler, Susanna Esteba‐Castillo, Aida Jiménez‐Xifra, Berta Alemany, Núria Ribas‐Vidal, Maria Cutillas, Mònica Coll, Mel·lina Pinsach, Sara Pagans, Mireia Alcalde, Marina Viñas‐Jornet, Mercedes Montero‐Vale, Marta deCastro‐Miró, Jairo Rodríguez, Lluís Armengol, Xavier Queralt, María Obón
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 12, Iss 6, Pp n/a-n/a (2024)
Abstract Background Spastic paraplegia 11 (SPG11) is the most prevalent form of autosomal recessive hereditary spastic paraplegia, resulting from biallelic pathogenic variants in the SPG11 gene (MIM *610844). Methods The proband is a 36‐year‐old
Externí odkaz:
https://doaj.org/article/f8ae4d4c2eb84f83b89a1dd3212e22d2
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
Autor:
Alexandra Pérez-Serra, Rocío Toro, Estefanía Martinez-Barrios, Anna Iglesias, Anna Fernandez-Falgueras, Mireia Alcalde, Mónica Coll, Marta Puigmulé, Bernat del Olmo, Ferran Picó, Laura Lopez, Elena Arbelo, Sergi Cesar, Coloma Tiron de Llano, Alipio Mangas, Josep Brugada, Georgia Sarquella-Brugada, Ramon Brugada, Oscar Campuzano
Publikováno v:
International Journal of Molecular Sciences, Vol 25, Iss 7, p 3807 (2024)
Dilated cardiomyopathy is a heterogeneous entity that leads to heart failure and malignant arrhythmias. Nearly 50% of cases are inherited; therefore, genetic analysis is crucial to unravel the cause and for the early identification of carriers at ris
Externí odkaz:
https://doaj.org/article/6b47b07d738b4660af7c8147b2ee20e1
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:
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:
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
Inflammation in the Pathogenesis of Arrhythmogenic Cardiomyopathy: Secondary Event or Active Driver?
Publikováno v:
Frontiers in Cardiovascular Medicine, Vol 8 (2021)
Arrhythmogenic cardiomyopathy (ACM) is a rare inherited cardiac disease characterized by arrhythmia and progressive fibro-fatty replacement of the myocardium, which leads to heart failure and sudden cardiac death. Inflammation contributes to disease
Externí odkaz:
https://doaj.org/article/596e9f778c6a468a99087550ecb0293a
Autor:
Monica Coll, Anna Fernandez-Falgueras, Anna Iglesias, Bernat del Olmo, Laia Nogue-Navarro, Adria Simon, Alexandra Perez Serra, Marta Puigmule, Laura Lopez, Ferran Pico, Monica Corona, Marta Vallverdu-Prats, Coloma Tiron, Oscar Campuzano, Josep Castella, Ramon Brugada, Mireia Alcalde
Publikováno v:
International Journal of Molecular Sciences, Vol 23, Iss 20, p 12640 (2022)
Molecular screening for pathogenic mutations in sudden cardiac death (SCD)-related genes is common practice for SCD cases. However, test results may lead to uncertainty because of the identification of variants of unknown significance (VUS) occurring
Externí odkaz:
https://doaj.org/article/246be2ae4f0747c8a9807b7928f8391c
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