Rebecca Martínez-Moreno; David Carreras; Georgia Sarquela-Brugada; Guillermo J. Pérez; Elisabet Selga ; Fabiana S. Scornik; Ramon Brugada "Loss of sodium current caused by a Brugada syndrome-associated variant is determined by patient-specific genetic background." Heart Rhythm (2023): -. Rebecca Martínez-Moreno, David Carreras, Begoña Aran, Bernd Kuebler, Georgia Sarquella-Brugada, Ramon Brugada, Guillermo J Pérez, Fabiana S Scornik, Elisabet Selga "Generation of four induced pluripotent stem cell lines from a family harboring a single nucleotide variant in SCN5A." Stem Cell Research 63 (2022): -. Rebecca Martínez-Moreno; Alexandra Pérez-Serra; David Carreras; Begoña Aran; Bernd Kuebler; Ramon Brugada; Fabiana S Scornik; Guillermo J Pérez; Elisabet Selga "Generation of an induced pluripotent stem cell line from a healthy Caucasian male." Stem Cell Research 60 (2022): -. David Carreras, Rebecca Martinez-Moreno, Mel·lina Pinsach-Abuin, Manel M. Santafe, Pol Gomà, Ramon Brugada, Fabiana S. Scornik, Guillermo J. Pérez, Sara Pagans "Epigenetic Changes Governing Scn5a Expression in Denervated Skeletal Muscle." International Journal of Molecular Sciences 22 (2021): 2755-. Rebecca Martinez-Moreno; Elisabet Selga; Helena Riuró; David Carreras; Mered Parnes; Chandra Srinivasan; Michael F. Wangler; Guillermo J. Pérez; Fabiana S. Scornik; Ramon Brugada "An SCN1B Variant Affects Both Cardiac-Type (NaV1.5) and Brain-Type (NaV1.1) Sodium Currents and Contributes to Complex Concomitant Brain and Cardiac Disorders." Frontiers in Cell and Developmental Biology 8 (2020): 1-17. Yeste, M.; Llavanera, M.; Scornik, F.; Pérez, G.; Puig-Parri, J.; Brugada, R.; Bonet, S.; Pinart, E. "Elucidating the role of K+ channels during in vitro capacitation of boar spermatozoa: do SLO1 channels play a crucial role?." International Journal of Molecular Sciences 20 (2019): 6330-. Santori M; Gil R;, Blanco-Verea A; Riuró H; Díaz-Castro Ó; López-Abel B; Brugada R; Carracedo Á; Pérez GJ; Scornik FS; Brion M9. "Sudden infant death as the most severe phenotype caused by genetic modulation in a family with atrial fibrillation." Forensic Science International 43 (2019): -. Cuyàs E; Gumuzio J; Lozano-Sánchez J; Carreras D; Verdura S; Llorach-Parés L; Sanchez-Martinez M; Selga E; Pérez GJ; Scornik FS; Brugada R; Bosch-Barrera J; Segura-Carretero A; Martin ÁG; Encinar JA; Menendez JA. "Extra virgin olive oil contains a phenolic inhibitor of the histone demethylase LSD1/KDM1A." Nutrients 11 (2019): 1656-. Elisabet Selga; Franziska Sendfeld; Rebecca Martinez-Moreno; Claire N Medine; Olga Tura-Ceide; Ian Wilmut; Guillermo J Pérez; Fabiana S Scornik; Ramon Brugada; Nicholas L Mills "Sodium channel current loss of function in induced pluripotent stem cell-derived cardiomyocytes from a Brugada syndrome patient." Journal of Molecular and Cellular Cardiology 114 (2017): 10-19. Wangüemert, F; Bosch Calero, C; Pérez, C; Campuzano, O; Beltran-Alvarez, P; Scornik, FS; Iglesias, A; Berne, P; Allegue, C; Ruiz Hernandez, P; Brugada, J; Pérez, GJ; Brugada, R "Clinical and molecular characterization of a cardiac ryanodine receptor founder mutation causing catecholaminergic polymorphic ventricular tachycardia." Heart Rhythm 12 (2015): 1636-1643. Riuró, H; Campuzano, O; Berne, P; Arbelo, E; Iglesias, A; Pérez-Serra, A; Coll-Vidal, M; Partemi, S; Mademont-Soler, I; Picó, F; Allegue, C; Oliva, A; Gerstenfeld, E; Sarquella-Brugada, G; Castro-Urda, V; Fernández-Lozano, I; "Genetic analysis, in silico prediction and family segregation in Long QT Syndrome." European Journal of Human Genetics 23 (2015): 79-85. Peeters, U; Scornik, F; Riuró, H; Pérez, G; Komurcu-Bayrak, E; Van Malderen, S; Pappaert, G; Tarradas, A; Pagans, S; Daneels, D; Breckpot, K; Brugada, P; Bonduelle, M; Brugada, R; Van Dooren, S "Contribution of cardiac sodium channel β-subunit variants to Brugada syndrome." Circulation Journal 79 (2015): 2118-2129. Riuró, H; Campuzano, O; Arbelo, E; Iglesias, A; Batlle, M; Pérez-Villa, F; Brugada, J; Pérez, GJ; Scornik, FS; Brugada, R. "A missense mutation in the sodium channel β1b subunit reveals SCN1B as a susceptibly gene underlying LQT Syndrome." Heart Rhythm 11 (2014): 1202-1209. Bosch Calero, C; Selga, E; Brugada, R; Scornik, FS; Perez, GJ. "The smooth muscle-type β1 subunit potentiates activation by DiBAC4(3) in recombinant BK channels." Channels 8 (2014): 95-102. Beltran-Alvarez P; Espejo A; Schmauder R; Beltran C; Mrowka R; Linke T; Batlle M; Pérez-Villa F; Pérez GJ; Scornik FS; Benndorf K; Pagans S; Zimmer T; Brugada R. "Protein arginine methyl transferases-3 and -5 increase cell surface expression of cardiac sodium channel.." Febs Letters 587 (2013): 3159-3165. Riuró, H; Beltran-Alvarez, P; Tarradas, A; Selga, E; Campuzano, O; Vergés, M; Pagans, S; Iglesias, A; Brugada, J; Brugada, P; Vázquez, FM; Pérez, GJ; Scornik, FS; Brugada R. "A missense mutation in the sodium channel β2 subunit reveals SCN2B as a new candidate gene for Brugada Syndrome." Human Mutation 34 (2013): 961-966. Selga,E; Pérez-Serra, A; Moreno-Asso, A; Anderson, S; Thomas, K; Desai, M; Brugada, R; Pérez, GJ; Scornik, FS. "Molecular heterogeneity of large-conductance calcium-activated potassium channels in canine intracardiac ganglia." Channels 7 (2013): 322-328. Scornik FS; Bucciero RS; Wu Y; Selga E; Bosch Calero C; Brugada R; Perez GJ. "DiBAC4(3) hits a 'sweet spot' for the activation of arterial large-conductance Ca2+-activated potassium (BK) channels independently of the β1 subunit." American Journal of Physiology. Heart and Circulatory Physiology 304 (2013): H1471-H1482. Guillermo J. Pérez; Mayurika Desai; Seth Anderson; Fabiana S. Scornik "Large conductance calcium-activated potassium (BK) current modulates excitability in isolated canine intracardiac neurons." American Journal of Physiology. Cell Physiology 304 (2013): C280-C286. Anna Tarradas; Elisabet Selga; Pedro Beltran-Alvarez, Alexandra Pérez-Serra; Helena Riuró; Ferran Picó; Anna Iglesias; Oscar Campuzano; Victor Castro-Urda; Ignasio Fernández-Lozano; Guillermo J. Pérez; Fabiana S. Scornik FS; "A Novel missense mutation, I890T, in the pore region of cardiac sodium channel causes Brugada Syndrome." PLoS One 8 (2013): Epub-. Eyal Nof; Jonathan M. Cordeiro; Guillermo J. Pérez; Fabiana S. Scornik; Kirstine Calloe; Barry Love; Elena Burashnikov; Gabriel Cáceres; Moshe Gunsburg; Charles Antzelevitch "A Common Single Nucleotide Polymorphism Can Exacerbate Long QT Type 2 Syndrome Leading to Sudden Infant Death." Circulation : Cardiovascular Genetics 3 (2010): 199-206. Jonathan M. Cordeiro; Jane E. Malone; José M. Di Diego; Fabiana S. Scornik; Gary L. Aistrup; Charles Antzelevitch; J. Andrew Wasserstrom "Cellular and subcellular alternans in the canine left ventricle." American Journal of Physiology. Heart and Circulatory Physiology 293 (2007): H3506-H3516. Yoshiyasu Aizawa; Kazuo Ueda; Fabiana Scornik; Jonathan M. Cordeiro; Yuesheng Wu, MS,1 Mayurika Desai; Alejandra Guerchicoff; Yasutoshi Nagata; Yoshito Iesaka; Akinori Kimura; Masayasu Hiraoka; Charles Antzelevitch "A novel Mutation in kcnq1 associated with a potent dominant negative effect as the basis for the lqt1 form of the long qt syndrome." Journal of Cardiovascular Electrophysiology 18 (2007): 972-977. Fabiana S. Scornik; Mayurika Desai; Ramón Brugada; Alejandra Guerchicoff; Guido D. Pollevick; Charles Antzelevitch; Guillermo J. Pérez "Functional expression of 'cardiac-type' Nav1.5 sodium channel in canine intracardiac ganglia." Heart Rhythm 3 (2006): 842-850. Di Diego JM; Cordeiro JM; Goodrow RJ; Fish JM; Zygmunt AC; Pérez GJ; Scornik FS; Antzelevitch C. "Ionic and cellular basis for the predominance of the Brugada syndrome phenotype in males." Circulation 106 (2002): 2004-2011. Parsons, Rodney, L.; Barstow, Karen L.; Scornik, Fabiana S. "Spontaneous miniature hyperpolarizations affect threshold for action potential generation in mudpuppy Cardiac neurons." Journal of Neurophysiology 88 (2002): 1119-1127. Fabiana S Scornik; Laura A. Merriam; Rodney L. Parsons "Number of K(Ca) channels underlying spontaneous miniature outward currents (SMOCs) in mudpuppy cardiac neurons." Journal of Neurophysiology 85 (2001): 54-60. Merriam, L.A.; Scornik, F.S.; Parsons, R.L. "Ca(2+)-induced Ca(2+) release activates spontaneous miniature outward currents (SMOCs) in parasympathetic cardiac neurons." Journal of Neurophysiology 82 (1999): 540-550. Scornik, F.S.; Codina, J.; Birnbaumer, L.; Toro, L. "Modulation of coronary smooth muscle KCa channels by Gs alpha independent of phosphorylation by protein kinase A." American Journal of Physiology (1898-1976) 265 (1993): H1460-H1456. Uchitel, O.D.; Scornik. F.; Protti. D.A.; Fumberg. C.G.; Alvarez. V.; Appel, S.H. "Long-term neuromuscular dysfunction produced by passive transfer of amyotrophic lateral sclerosis immunoglobulins." Neurology 42 (1992): 2175-2180. Scornik, F.S.; Toro, L. "U46619, a thromboxane A2 agonist, inhibits KCa channel activity from pig coronary artery." American Journal of Physiology (1898-1976) 262 (1992): C708-C713. Protti DA; Szczupak L; Scornik FS; Uchitel OD "Effect of omega-conotoxin GVIA on neurotransmitter release at the mouse neuromuscular junction.." Brain Research 557 (1991): 336-339. Scornik F; Szczupak L; Siri LN; Uchitel OD "Ca2+ role on the effect of phorbol esters on the spontaneous quantal release of neurotransmitter at the mouse neuromuscular junction.." Brain Research 525 (1990): 280-284.
Franziska Sendfeld; Elisabet Selga; Fabiana S. Scornik: Guillermo J. Pérez; Nicholas L. Mills; Ramon Brugada "Experimental Models of Brugada syndrome." International Journal of Molecular Sciences 20 (2019): 2123-. Campuzano O; Beltrán-Alvarez P; Iglesias A; Scornik F; Pérez G; Brugada R "Genetics and cardiac channelopathies." Genetics in Medicine 12 (2010): 260-267. Antzelevitch C; Belardinelli L; Wu L; Fraser H; Zygmunt AC; Burashnikov A; Di Diego JM; Fish JM; Cordeiro JM; Goodrow RJ Jr; Scornik F; Perez G. "Electrophysiologic properties and Antiarrhythmic actions of a novel antianginal agent." Journal of Cardiovascular Pharmacology and Therapeutics 9 (2004): S65-S83.