Zobrazeno 1 - 10
of 21
pro vyhledávání: '"Alexandra Perez-Serra"'
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
Publikováno v:
Genes and Diseases, Vol 3, Iss 4, Pp 257-262 (2016)
Atrial fibrillation is the most common sustained arrhythmia and remains as one of main challenges in current clinical practice. The disease may be induced secondary to other diseases such as hypertension, valvular heart disease, and heart failure, co
Externí odkaz:
https://doaj.org/article/3cd839f839b54ee487e42e3d68cdb6e0
Autor:
Oscar Campuzano, Anna Fernandez-Falgueras, Georgia Sarquella-Brugada, Sergi Cesar, Elena Arbelo, Ana García-Álvarez, Paloma Jordà, Monica Coll, Victoria Fiol, Anna Iglesias, Alexandra Perez-Serra, Jesus Mates, Bernat del Olmo, Carles Ferrer, Mireia Alcalde, Marta Puigmulé, Irene Mademont-Soler, Ferran Pico, Laura Lopez, Coloma Tiron, Josep Brugada, Ramon Brugada
Publikováno v:
Frontiers in Genetics, Vol 10 (2019)
Cardiomyopathies are a heterogeneous group of inherited cardiac diseases characterized by progressive myocardium abnormalities associated with mechanical and/or electrical dysfunction. Massive genetic sequencing technologies allow a comprehensive gen
Externí odkaz:
https://doaj.org/article/c52142240d0240338c8956657072679f
Autor:
Estefanía Martinez-Barrios, Georgia Sarquella-Brugada, Alexandra Perez-Serra, Anna Fernandez-Falgueras, Sergi Cesar, Mireia Alcalde, Mónica Coll, Marta Puigmulé, Anna Iglesias, Carles Ferrer-Costa, Bernat del Olmo, Ferran Picó, Laura Lopez, Victoria Fiol, José Cruzalegui, Clara Hernandez, Elena Arbelo, Nuria Díez-Escuté, Patricia Cerralbo, Simone Grassi, Antonio Oliva, Rocío Toro, Josep Brugada, Ramon Brugada, Oscar Campuzano
Publikováno v:
International Journal of Legal Medicine. 137:345-351
Sudden death cases in the young population remain without a conclusive cause of decease in almost 40% of cases. In these situations, cardiac arrhythmia of genetic origin is suspected as the most plausible cause of death. Molecular autopsy may reveal
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::17eeef65ef3b1beda2e4f99a783bb000
https://doi.org/10.1007/s00414-023-02951-0
https://doi.org/10.1007/s00414-023-02951-0
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; Volume 23; Issue 20; Pages: 12640
International Journal of Molecular Sciences, 2022, vol. 23, núm. 20, p. 12640
Articles publicats (D-CM)
DUGiDocs – Universitat de Girona
instname
International Journal of Molecular Sciences, 2022, vol. 23, núm. 20, p. 12640
Articles publicats (D-CM)
DUGiDocs – Universitat de Girona
instname
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://explore.openaire.eu/search/publication?articleId=doi_dedup___::5fffa5c3a0bc858414e62d2d430e7669
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, 2022, vol. 11, núm. 15, p. 4406
Articles publicats (IdIBGi)
Oliva, Antonio Grassi, Simone Pinchi, Vilma Cazzato, Francesca Coll Vidal, Mònica Alcalde Masegu, Mireia Vallverdú-Prats, Marta Perez-Serra, Alexandra Martínez-Barrios, Estefanía Cesar, Sergi Iglesias, Anna Cruzalegui, Jose Carlos Hernández Cera, Clara Fiol, Victoria Arbelo, Elena Díez-Escuté, Nuria Arena, Vincenzo Brugada, Josep Sarquella Brugada, Geòrgia Brugada, Ramon Campuzano Larrea, Oscar 2022 Structural Heart Alterations in Brugada Syndrome: Is it Really a Channelopathy? A Systematic Review Journal of Clinical Medicine 11 15 4406
DUGiDocs – Universitat de Girona
instname
Articles publicats (IdIBGi)
Oliva, Antonio Grassi, Simone Pinchi, Vilma Cazzato, Francesca Coll Vidal, Mònica Alcalde Masegu, Mireia Vallverdú-Prats, Marta Perez-Serra, Alexandra Martínez-Barrios, Estefanía Cesar, Sergi Iglesias, Anna Cruzalegui, Jose Carlos Hernández Cera, Clara Fiol, Victoria Arbelo, Elena Díez-Escuté, Nuria Arena, Vincenzo Brugada, Josep Sarquella Brugada, Geòrgia Brugada, Ramon Campuzano Larrea, Oscar 2022 Structural Heart Alterations in Brugada Syndrome: Is it Really a Channelopathy? A Systematic Review Journal of Clinical Medicine 11 15 4406
DUGiDocs – Universitat de Girona
instname
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://explore.openaire.eu/search/publication?articleId=doi_dedup___::92d765b23a2d26d3c0fc1c54111c24e4
https://pubmed.ncbi.nlm.nih.gov/35956023
https://pubmed.ncbi.nlm.nih.gov/35956023
Publikováno v:
Psychology, 2013, vol.4, núm.10, p. 760-770
Articles publicats (D-P)
DUGiDocs – Universitat de Girona
instname
Articles publicats (D-P)
DUGiDocs – Universitat de Girona
instname
Learning problems in the light of PASS assessment and intervention were studied. Data for 248 subjects with specific learning impairment (SLI), dyslexia, dyscalculia, and non-defined learning difficulty were studied. Hierarchical cluster analysis of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::43b4295152dd9e0c0374f203a7d3ae78
https://hdl.handle.net/2072/372115
https://hdl.handle.net/2072/372115
Autor:
Rebecca Martínez-Moreno, Alexandra Pérez-Serra, Elisabet Selga, David Carreras, Begoña Aran, Bernd Kuebler, Fabiana S. Scornik, Guillermo J. Pérez, Ramon Brugada
Publikováno v:
Stem Cell Research, Vol 73, Iss , Pp 103239- (2023)
Tissue-specific cells differentiated from patient-derived human induced pluripotent stem cells (hiPSC) are a relevant cellular model to study several diseases. We obtained a hiPSC line from skin fibroblasts of a patient affected by familial atrial fi
Externí odkaz:
https://doaj.org/article/a5a6383660434068bac6b7654e908c00
Autor:
Rebecca Martínez-Moreno, Alexandra Pérez-Serra, David Carreras, Begoña Aran, Bernd Kuebler, Ramon Brugada, Fabiana S. Scornik, Guillermo J. Pérez, Elisabet Selga
Publikováno v:
Stem Cell Research, Vol 60, Iss , Pp 102717- (2022)
The effects of genetic mutations on protein function can be studied in a physiologically relevant environment using tissue-specific cells differentiated from patient-derived induced pluripotent stem cells (iPSC). However, it is crucial to use iPSC de
Externí odkaz:
https://doaj.org/article/4ca3ce8cdcb64fbba60693a9192209ef
Autor:
Georgia Sarquella-Brugada, Oscar García-Algar, María Dolores Zambrano, Anna Fernández-Falgueres, Sebastian Sailer, Sergi Cesar, Giorgia Sebastiani, Julio Martí-Almor, Esther Aurensanz, Jose Carlos Cruzalegui, Erika Fernanda Merchan, Mónica Coll, Alexandra Pérez-Serra, Bernat del Olmo, Victoria Fiol, Anna Iglesias, Carles Ferrer-Costa, Marta Puigmulé, Laura Lopez, Ferran Pico, Elena Arbelo, Paloma Jordà, Josep Brugada, Ramon Brugada, Oscar Campuzano
Publikováno v:
Frontiers in Pediatrics, Vol 9 (2021)
Introduction: Long QT syndrome is the main arrhythmogenic disease responsible for sudden death in infants, especially in the first days of life. Performing an electrocardiogram in newborns could enable early diagnosis and adoption of therapeutic meas
Externí odkaz:
https://doaj.org/article/63da0e5c5568477e94cc67f8aa6d8707