Mutations in the NOTCH pathway regulator MIB1 cause left ventricular noncompaction cardiomyopathy
Luxán, Guillermo, Casanova, Jesús C, Martínez-Poveda, Beatriz, Prados, Belén, D'Amato, Gaetano, MacGrogan, Donal, Gonzalez-Rajal, Alvaro, Dobarro, David, Torroja, Carlos, Martinez, Fernando, Izquierdo-García, José Luis, Fernández-Friera, Leticia, Sabater-Molina, María, Kong, Young-Y, Pizarro, Gonzalo, Ibañez, Borja, Medrano, Constancio, García-Pavía, Pablo, Gimeno, Juan R, Monserrat, Lorenzo, Jiménez-Borreguero, Luis J, de la Pompa, José Luis
Published in Nature medicine (01.02.2013)
Published in Nature medicine (01.02.2013)
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Journal Article
Novel Desmin Mutation p.Glu401Asp Impairs Filament Formation, Disrupts Cell Membrane Integrity, and Causes Severe Arrhythmogenic Left Ventricular Cardiomyopathy/Dysplasia
Bermúdez-Jiménez, Francisco José, Carriel, Víctor, Brodehl, Andreas, Alaminos, Miguel, Campos, Antonio, Schirmer, Ilona, Milting, Hendrik, Abril, Beatriz Álvarez, Álvarez, Miguel, López-Fernández, Silvia, García-Giustiniani, Diego, Monserrat, Lorenzo, Tercedor, Luis, Jiménez-Jáimez, Juan
Published in Circulation (New York, N.Y.) (10.04.2018)
Published in Circulation (New York, N.Y.) (10.04.2018)
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Journal Article
Identification of an elusive spliceogenic MYBPC3 variant in an otherwise genotype-negative hypertrophic cardiomyopathy pedigree
Torrado, Mario, Maneiro, Emilia, Lamounier Junior, Arsonval, Fernández-Burriel, Miguel, Sánchez Giralt, Sara, Martínez-Carapeto, Ana, Cazón, Laura, Santiago, Elisa, Ochoa, Juan Pablo, McKenna, William J., Santomé, Luis, Monserrat, Lorenzo
Published in Scientific reports (04.05.2022)
Published in Scientific reports (04.05.2022)
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Journal Article
Natural History and Risk Stratification in Andersen-Tawil Syndrome Type 1
Mazzanti, Andrea, Guz, Dmitri, Trancuccio, Alessandro, Pagan, Eleonora, Kukavica, Deni, Chargeishvili, Tekla, Olivetti, Natalia, Biernacka, Elżbieta Katarzyna, Sacilotto, Luciana, Sarquella-Brugada, Georgia, Campuzano, Oscar, Nof, Eyal, Anastasakis, Aristides, Sansone, Valeria A., Jimenez-Jaimez, Juan, Cruz, Fernando, Sánchez-Quiñones, Jessica, Hernandez-Afonso, Julio, Fuentes, Maria Eugenia, Średniawa, Beata, Garoufi, Anastasia, Andršová, Irena, Izquierdo, Maite, Marinov, Rumen, Danon, Asaf, Expósito-García, Victor, Garcia-Fernandez, Amaya, Muñoz-Esparza, Carmen, Ortíz, Martín, Zienciuk-Krajka, Agnieszka, Tavazzani, Elisa, Monteforte, Nicola, Bloise, Raffaella, Marino, Maira, Memmi, Mirella, Napolitano, Carlo, Zorio, Esther, Monserrat, Lorenzo, Bagnardi, Vincenzo, Priori, Silvia G.
Published in Journal of the American College of Cardiology (21.04.2020)
Published in Journal of the American College of Cardiology (21.04.2020)
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Journal Article
Predictors of atrial fibrillation in hypertrophic cardiomyopathy
Guttmann, Oliver P, Pavlou, Menelaos, O'Mahony, Constantinos, Monserrat, Lorenzo, Anastasakis, Aristides, Rapezzi, Claudio, Biagini, Elena, Gimeno, Juan Ramon, Limongelli, Giuseppe, Garcia-Pavia, Pablo, McKenna, William J, Omar, Rumana Z, Elliott, Perry M
Published in Heart (British Cardiac Society) (01.05.2017)
Published in Heart (British Cardiac Society) (01.05.2017)
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Journal Article
Genetic basis of familial dilated cardiomyopathy patients undergoing heart transplantation
Cuenca, Sofia, MD, Ruiz-Cano, Maria J., MD, PhD, Gimeno-Blanes, Juan Ramón, MD, PhD, Jurado, Alfonso, MD, Salas, Clara, MD, Gomez-Diaz, Iria, BSc, Padron-Barthe, Laura, PhD, Grillo, Jose Javier, MD, Vilches, Carlos, MD, PhD, Segovia, Javier, MD, PhD, Pascual-Figal, Domingo, MD, PhD, Lara-Pezzi, Enrique, PhD, Monserrat, Lorenzo, MD, PhD, Alonso-Pulpon, Luis, MD, PhD, Garcia-Pavia, Pablo, MD, PhD
Published in The Journal of heart and lung transplantation (01.05.2016)
Published in The Journal of heart and lung transplantation (01.05.2016)
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Journal Article
Diagnostic Approach to Unexplained Cardiac Arrest (from the FIVI-Gen Study)
Jiménez-Jáimez, Juan, MD, PhD, Peinado, Rafael, MD, PhD, Grima, Esther Zorio, MD, PhD, Segura, Federico, MD, Moriña, Pablo, MD, Sánchez Muñoz, Juan J., MD, PhD, Mazuelos, Francisco, MD, PhD, Cózar, Rocío, MD, PhD, Gimeno, Juan R., MD, Heras, Rocío P., MD, Monserrat, Lorenzo, MD, PhD, Domingo, Diana, MD, Ortiz-Genga, Martín, MD, Fernández Pastor, Julia, MD, Álvarez, Miguel, MD, PhD, Tercedor, Luis, MD
Published in The American journal of cardiology (15.09.2015)
Published in The American journal of cardiology (15.09.2015)
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Journal Article
Familial Recurrent Myocarditis Triggered by Exercise in Patients With a Truncating Variant of the Desmoplakin Gene
Poller, Wolfgang, Haas, Jan, Klingel, Karin, Kühnisch, Jirko, Gast, Martina, Kaya, Ziya, Escher, Felicitas, Kayvanpour, Elham, Degener, Franziska, Opgen-Rhein, Bernd, Berger, Felix, Mochmann, Hans-Christian, Skurk, Carsten, Heidecker, Bettina, Schultheiss, Heinz-Peter, Monserrat, Lorenzo, Meder, Benjamin, Landmesser, Ulf, Klaassen, Sabine
Published in Journal of the American Heart Association (18.05.2020)
Published in Journal of the American Heart Association (18.05.2020)
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Journal Article
Electrophysiological abnormalities in induced pluripotent stem cell‐derived cardiomyocytes generated from Duchenne muscular dystrophy patients
Eisen, Binyamin, Ben Jehuda, Ronen, Cuttitta, Ashley J., Mekies, Lucy N., Shemer, Yuval, Baskin, Polina, Reiter, Irina, Willi, Lubna, Freimark, Dov, Gherghiceanu, Mihaela, Monserrat, Lorenzo, Scherr, Michaela, Hilfiker‐Kleiner, Denise, Arad, Michael, Michele, Daniel E., Binah, Ofer
Published in Journal of cellular and molecular medicine (01.03.2019)
Published in Journal of cellular and molecular medicine (01.03.2019)
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Journal Article
Prevalence of Fabry Disease in a Cohort of 508 Unrelated Patients With Hypertrophic Cardiomyopathy
Monserrat, Lorenzo, MD, Gimeno-Blanes, Juan Ramón, MD, Marín, Francisco, MD, Hermida-Prieto, Manuel, PhD, García-Honrubia, Antonio, MD, Pérez, Inmaculada, BS, Fernández, Xusto, MD, de Nicolas, Rosario, MD, de la Morena, Gonzalo, MD, Payá, Eduardo, MD, Yagüe, Jordi, PhD, Egido, Jesús, MD
Published in Journal of the American College of Cardiology (18.12.2007)
Published in Journal of the American College of Cardiology (18.12.2007)
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Journal Article
Isogenic Pairs of hiPSC-CMs with Hypertrophic Cardiomyopathy/LVNC-Associated ACTC1 E99K Mutation Unveil Differential Functional Deficits
Smith, James G.W., Owen, Thomas, Bhagwan, Jamie R., Mosqueira, Diogo, Scott, Elizabeth, Mannhardt, Ingra, Patel, Asha, Barriales-Villa, Roberto, Monserrat, Lorenzo, Hansen, Arne, Eschenhagen, Thomas, Harding, Sian E., Marston, Steve, Denning, Chris
Published in Stem cell reports (13.11.2018)
Published in Stem cell reports (13.11.2018)
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Journal Article
Next-Generation Sequencing and Quantitative Proteomics of Hutchinson-Gilford progeria syndrome-derived cells point to a role of nucleotide metabolism in premature aging
Mateos, Jesús, Fafián-Labora, Juan, Morente-López, Miriam, Lesende-Rodriguez, Iván, Monserrat, Lorenzo, Ódena, María A, Oliveira, Eliandre de, de Toro, Javier, Arufe, María C
Published in PloS one (31.10.2018)
Published in PloS one (31.10.2018)
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Journal Article
Prognostic implications of troponin T variations in inherited cardiomyopathies using systems biology
Shakur, Rameen, Ochoa, Juan Pablo, Robinson, Alan J., Niroula, Abhishek, Chandran, Aneesh, Rahman, Taufiq, Vihinen, Mauno, Monserrat, Lorenzo
Published in Npj genomic medicine (14.06.2021)
Published in Npj genomic medicine (14.06.2021)
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Journal Article
Calmodulin 2 Mutation N98S Is Associated with Unexplained Cardiac Arrest in Infants Due to Low Clinical Penetrance Electrical Disorders
Jiménez-Jáimez, Juan, Palomino Doza, Julián, Ortega, Ángeles, Macías-Ruiz, Rosa, Perin, Francesca, Rodríguez-Vázquez del Rey, M Mar, Ortiz-Genga, Martín, Monserrat, Lorenzo, Barriales-Villa, Roberto, Blanca, Enrique, Álvarez, Miguel, Tercedor, Luis
Published in PloS one (21.04.2016)
Published in PloS one (21.04.2016)
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Journal Article
Phenotypes of hypertrophic cardiomyopathy. An illustrative review of MRI findings
Soler, Rafaela, Méndez, Cristina, Rodríguez, Esther, Barriales, Roberto, Ochoa, Juan Pablo, Monserrat, Lorenzo
Published in Insights into imaging (01.12.2018)
Published in Insights into imaging (01.12.2018)
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Journal Article
Genetic Testing as a Guide for Treatment in Dilated Cardiomyopathies
García-Hernandez, Soledad, Iglesias, Lorenzo Monserrat
Published in Current cardiology reports (01.11.2022)
Published in Current cardiology reports (01.11.2022)
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Journal Article
Value of a comprehensive exercise echocardiography assessment for patients with hypertrophic cardiomyopathy
Peteiro, Jesus, Barriales-Villa, Roberto, Larrañaga-Moreira, José M., Bouzas-Mosquera, Alberto, Martinez-Veira, Cristina, Castro-Dios, Diana, Fernández-Fernández, Xusto, Monserrat, Lorenzo, Vazquez-Rodriguez, Jose
Published in Journal of cardiology (01.05.2021)
Published in Journal of cardiology (01.05.2021)
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Journal Article
A cryptic splice-altering KCNQ1 variant in trans with R259L leading to Jervell and Lange-Nielsen syndrome
Torrado, Mario, Fernández, Germán, Ganoza, Christian A., Maneiro, Emilia, García, Diego, Sonicheva-Paterson, Natalia, Rosa, Isaac, Ochoa, Juan Pablo, Santomé, Luis, Vasichkina, Elena, Monserrat, Lorenzo
Published in Npj genomic medicine (04.03.2021)
Published in Npj genomic medicine (04.03.2021)
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Journal Article
Sudden death in hypertrophic cardiomyopathy: identification of high risk patients
Elliott, Perry M, Poloniecki, Jan, Dickie, Shaughan, Sharma, Sanjay, Monserrat, Lorenzo, Varnava, Amanda, Mahon, Niall G, McKenna, William J
Published in Journal of the American College of Cardiology (01.12.2000)
Published in Journal of the American College of Cardiology (01.12.2000)
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