Congenital long QT syndrome

Por Crotti, Lia, Celano, Giuseppe, Dagradi, Federica, Schwartz, Peter J
Publicado em 2008

Congenital Short QT Syndrome

Por Crotti, Lia, Taravelli, Erika, Girardengo, Giulia, Schwartz, Peter J
Publicado em 2010

Propranolol prevents life-threatening arrhythmias in LQT3 transgenic mice: Implications for the clinical management of LQT3 patients()

Por Calvillo, Laura, Spazzolini, Carla, Vullo, Eleonora, Insolia, Roberto, Crotti, Lia, Schwartz, Peter J.
Publicado em 2014

Autonomic Control of Heart Rate and of QT Interval Variability Influences Arrhythmic Risk in Long QT Syndrome Type 1

Por Porta, Alberto, Girardengo, Giulia, Bari, Vlasta, George, Alfred L., Brink, Paul A., Goosen, Althea, Crotti, Lia, Schwartz, Peter J.
Publicado no J Am Coll Cardiol (2015)

Novel Perspectives in Redox Biology and Pathophysiology of Failing Myocytes: Modulation of the Intramyocardial Redox Milieu for Therapeutic Interventions—A Review Article from the...

Por Arcaro, Alessia, Pirozzi, Flora, Angelini, Annalisa, Chimenti, Cristina, Crotti, Lia, Giordano, Carla, Mancardi, Daniele, Torella, Daniele, Tocchetti, Carlo G.
Publicado no Oxid Med Cell Longev (2016)

Arrhythmogenic Calmodulin Mutations Disrupt Intracellular Cardiomyocyte Ca(2+) Regulation by Distinct Mechanisms

Por Yin, Guo, Hassan, Faisal, Haroun, Ayman R., Murphy, Lisa L., Crotti, Lia, Schwartz, Peter J., George, Alfred L., Satin, Jonathan
Publicado no J Am Heart Assoc (2014)

Mutation analysis of the phospholamban gene in 315 South Africans with dilated, hypertrophic, peripartum and arrhythmogenic right ventricular cardiomyopathies

Por Fish, Maryam, Shaboodien, Gasnat, Kraus, Sarah, Sliwa, Karen, Seidman, Christine E., Burke, Michael A., Crotti, Lia, Schwartz, Peter J., Mayosi, Bongani M.
Publicado no Sci Rep (2016)

Corrigendum: Mutation analysis of the phospholamban gene in 315 South Africans with dilated, hypertrophic, peripartum and arrhythmogenic right ventricular cardiomyopathies

Por Fish, Maryam, Shaboodien, Gasnat, Kraus, Sarah, Sliwa, Karen, Seidman, Christine E., Burke, Michael A., Crotti, Lia, Schwartz, Peter J., Mayosi, Bongani M.
Publicado no Sci Rep (2016)

NOS1AP is a Genetic Modifier of the Long-QT Syndrome

Por Crotti, Lia, Monti, Maria Cristina, Insolia, Roberto, Peljto, Anna, Goosen, Althea, Brink, Paul A., Greenberg, David A., Schwartz, Peter J., George, Alfred L.
Publicado em 2009

Malignant Perinatal Variant of Long-QT Syndrome Caused by a Profoundly Dysfunctional Cardiac Sodium Channel

Por Wang, Dao W., Crotti, Lia, Shimizu, Wataru, Pedrazzini, Matteo, Cantu', Francesco, De Filippo, Paolo, Kishiki, Kanako, Miyazaki, Aya, Ikeda, Tomoaki, Schwartz, Peter J., George, Alfred L.
Publicado em 2008

Transient Outward Current (I(to)) Gain-of-Function Mutations in the KCND3-Encoded Kv4.3 Potassium Channel and Brugada Syndrome

Por Giudicessi, John R., Ye, Dan, Tester, David J., Crotti, Lia, Mugione, Alessandra, Nesterenko, Vladislav V., Albertson, Richard M., Antzelevitch, Charles, Schwartz, Peter J., Ackerman, Michael J.
Publicado em 2011

AKAP9 is a Genetic Modifier of Congenital Long-QT Syndrome Type 1

Por de Villiers, Carin P., van der Merwe, Lize, Crotti, Lia, Goosen, Althea, George, Alfred L., Schwartz, Peter J., Brink, Paul A., Moolman-Smook, Johanna C., Corfield, Valerie A.
Publicado no Circ Cardiovasc Genet (2014)

Spectrum and Prevalence of Mutations Involving BrS1-12-Susceptibility Genes in a Cohort of Unrelated Patients Referred for Brugada Syndrome Genetic Testing: Implications for Geneti...

Por Crotti, Lia, Kellen, Cherisse A., Tester, David J., Castelletti, Silvia, Giudicessi, John R., Torchio, Margherita, Medeiros-Domingo, Argelia, Simone, Savastano, Will, Melissa L, Dagradi, Federica, Schwartz, Peter J., Ackerman, Michael J.
Publicado em 2012

FGF12 is a candidate Brugada syndrome locus

Por Hennessey, Jessica A., Marcou, Cherisse A., Wang, Chuan, Wei, Eric Q., Wang, Chaojian, Tester, David J., Torchio, Margherita, Dagradi, Federica, Crotti, Lia, Schwartz, Peter J., Ackerman, Michael J., Pitt, Geoffrey S.
Publicado em 2013

Multiscale Complexity Analysis of the Cardiac Control Identifies Asymptomatic and Symptomatic Patients in Long QT Syndrome Type 1

Por Bari, Vlasta, Valencia, José F., Vallverdú, Montserrat, Girardengo, Giulia, Marchi, Andrea, Bassani, Tito, Caminal, Pere, Cerutti, Sergio, George, Alfred L., Brink, Paul A., Crotti, Lia, Schwartz, Peter J., Porta, Alberto
Publicado em 2014

Torsades de pointes following acute myocardial infarction: Evidence for a deadly link with a common genetic variant

Por Crotti, Lia, Hu, Dan, Barajas-Martinez, Hector, De Ferrari, Gaetano M., Oliva, Antonio, Insolia, Roberto, Pollevick, Guido D., Dagradi, Federica, Guerchicoff, Alejandra, Greco, Federica, Schwartz, Peter J., Viskin, Sami, Antzelevitch, Charles
Publicado em 2012

Mutation-specific Risk in Two Genetic Forms of Type-3 Long QT Syndrome

Por Liu, Judy F., Moss, Arthur J., Jons, Christian, Benhorin, Jesaia, Schwartz, Peter J., Spazzolini, Carla, Crotti, Lia, Ackerman, Michael J., McNitt, Scott, Robinson, Jennifer L., Qi, Ming, Goldenberg, Ilan, Zareba, Wojciech
Publicado em 2010

Gain-of-Function Mutation, S422L, in the KCNJ8-Encoded Cardiac K(ATP) Channel Kir6.1 as a Pathogenic Substrate for J Wave Syndromes

Por Medeiros-Domingo, Argelia, Tan, Bi-Hua, Crotti, Lia, Tester, David J., Eckhardt, Lee, Cuoretti, Alessandra, Kroboth, Stacie L., Song, Chunhua, Zhou, Qing, Kopp, Doug, Schwartz, Peter J., Makielski, Jonathan C., Ackerman, Michael J.
Publicado em 2010

Prevalence of the Congenital Long QT Syndrome

Por Schwartz, Peter J, Stramba-Badiale, Marco, Crotti, Lia, Pedrazzini, Matteo, Besana, Alessandra, Bosi, Giuliano, Gabbarini, Fulvio, Goulene, Karine, Insolia, Roberto, Mannarino, Savina, Mosca, Fabio, Nespoli, Luigi, Rimini, Alessandro, Rosati, Enrico, Salice, Patrizia, Spazzolini, Carla
Publicado em 2009

Novel Calmodulin Mutations Associated with Congenital Long QT Syndrome Affect Calcium Current in Human Cardiomyocytes

Por Pipilas, Daniel C., Johnson, Christopher N., Webster, Gregory, Schlaepfer, Jurg, Fellmann, Florence, Sekarski, Nicole, Wren, Lisa M., Ogorodnik, Kateryna V., Chazin, Daniel M., Chazin, Walter J., Crotti, Lia, Bhuiyan, Zahurul A., George, Alfred L.
Publicado no Heart Rhythm (2016)