Storage diseases with hypertrophic cardiomyopathy phenotype

por Ruiz-Guerrero, Luis, Barriales-Villa, Roberto
Publicado 2018

Giant ascending aortic aneurysm with impending rupture as presentation of cutis laxa 1B: a case report

por Used-Gavín, Alejandro, Larrañaga-Moreira, José María, Lago-Cascudo, Rafael, Mosquera-Rodríguez, Víctor X, Barriales-Villa, Roberto
Publicado 2023

Cardiotrophin-1 plasma levels are associated with the severity of hypertrophy in hypertrophic cardiomyopathy

por Monserrat, Lorenzo, López, Begoña, González, Arantxa, Hermida, Manuel, Fernández, Xusto, Ortiz, Martín, Barriales-Villa, Roberto, Castro-Beiras, Alfonso, Díez, Javier
Publicado 2011

Negative screening of Fabry disease in patients with conduction disorders requiring a pacemaker

por López-Sainz, Ángela, Climent, Vicente, Ripoll-Vera, Tomas, Espinosa, Maria Angeles, Barriales-Villa, Roberto, Navarro, Marina, Limeres, Javier, Domingo, Diana, Kasper, David C., Garcia-Pavia, Pablo
Publicado 2019

Hypokinetic hypertrophic cardiomyopathy: clinical phenotype, genetics, and prognosis

por Wasserstrum, Yishay, Larrañaga‐Moreira, José M., Martinez‐Veira, Cristina, Itelman, Edward, Lotan, Dor, Sabbag, Avi, Kuperstein, Rafael, Peled, Yael, Freimark, Dov, Barriales‐Villa, Roberto, Arad, Michael
Publicado 2022

Screening mutations in myosin binding protein C3 gene in a cohort of patients with Hypertrophic Cardiomyopathy

por Rodríguez-García, María Isabel, Monserrat, Lorenzo, Ortiz, Martín, Fernández, Xusto, Cazón, Laura, Núñez, Lucía, Barriales-Villa, Roberto, Maneiro, Emilia, Veira, Elena, Castro-Beiras, Alfonso, Hermida-Prieto, Manuel
Publicado 2010

The importance of genotype-phenotype correlation in the clinical management of Marfan syndrome

por Becerra-Muñoz, Víctor Manuel, Gómez-Doblas, Juan José, Porras-Martín, Carlos, Such-Martínez, Miguel, Crespo-Leiro, María Generosa, Barriales-Villa, Roberto, de Teresa-Galván, Eduardo, Jiménez-Navarro, Manuel, Cabrera-Bueno, Fernando
Publicado 2018

Calmodulin 2 Mutation N98S Is Associated with Unexplained Cardiac Arrest in Infants Due to Low Clinical Penetrance Electrical Disorders

por 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
Publicado 2016

Isogenic Pairs of hiPSC-CMs with Hypertrophic Cardiomyopathy/LVNC-Associated ACTC1 E99K Mutation Unveil Differential Functional Deficits

por 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
Publicado 2018

Lamin A/C Ablation Restricted to Vascular Smooth Muscle Cells, Cardiomyocytes, and Cardiac Fibroblasts Causes Cardiac and Vascular Dysfunction

por Del Monte-Monge, Alberto, Ruiz-Polo de Lara, Íñigo, Gonzalo, Pilar, Espinós-Estévez, Carla, González-Amor, María, de la Fuente-Pérez, Miguel, Andrés-Manzano, María J., Fanjul, Víctor, Gimeno, Juan R., Barriales-Villa, Roberto, Dorado, Beatriz, Andrés, Vicente
Publicado 2023

Phenotype and prognostic correlations of the converter region mutations affecting the β myosin heavy chain

por García-Giustiniani, Diego, Arad, Michael, Ortíz-Genga, Martín, Barriales-Villa, Roberto, Fernández, Xusto, Rodríguez-García, Isabel, Mazzanti, Andrea, Veira, Elena, Maneiro, Emilia, Rebolo, Paula, Lesende, Iván, Cazón, Laura, Freimark, Dov, Gimeno-Blanes, Juan Ramón, Seidman, Christine, Seidman, Jonathan, McKenna, William, Monserrat, Lorenzo
Publicado 2015

Current use of cardiac magnetic resonance in tertiary referral centres for the diagnosis of cardiomyopathy: the ESC EORP Cardiomyopathy/Myocarditis Registry

por Mizia-Stec, Katarzyna, Charron, Philippe, Gimeno Blanes, Juan Ramon, Elliott, Perry, Kaski, Juan Pablo, Maggioni, Aldo P, Tavazzi, Luigi, Tendera, Michał, Felix, Stephan B, Dominguez, Fernando, Ojrzynska, Natalia, Losi, Maria-Angela, Limongelli, Giuseppe, Barriales-Villa, Roberto, Seferovic, Petar M, Biagini, Elena, Wybraniec, Maciej, Laroche, Cecile, Caforio, Alida L P
Publicado 2021

Protein haploinsufficiency drivers identify MYBPC3 variants that cause hypertrophic cardiomyopathy

por Suay-Corredera, Carmen, Pricolo, Maria Rosaria, Herrero-Galán, Elías, Velázquez-Carreras, Diana, Sánchez-Ortiz, David, García-Giustiniani, Diego, Delgado, Javier, Galano-Frutos, Juan José, García-Cebollada, Helena, Vilches, Silvia, Domínguez, Fernando, Molina, María Sabater, Barriales-Villa, Roberto, Frisso, Giulia, Sancho, Javier, Serrano, Luis, García-Pavía, Pablo, Monserrat, Lorenzo, Alegre-Cebollada, Jorge
Publicado 2021

Combination of late gadolinium enhancement and genotype improves prediction of prognosis in non‐ischaemic dilated cardiomyopathy

por Mirelis, Jesús G., Escobar‐Lopez, Luis, Ochoa, Juan Pablo, Espinosa, María Ángeles, Villacorta, Eduardo, Navarro, Marina, Casas, Guillem, Mora‐Ayestarán, Nerea, Barriales‐Villa, Roberto, Mogollón‐Jiménez, María Victoria, García‐Pinilla, José M., García‐Granja, Pablo E., Climent, Vicente, Palomino‐Doza, Julian, García‐Álvarez, Ana, Álvarez‐Barredo, María, Cabrera‐Borrego, Eva, Ripoll‐Vera, Tomás, Peña‐Peña, María Luisa, Rodríguez‐González, Elena, Gallego‐Delgado, María, Gonzalez‐Carrillo, Josefa, Fernández‐Ávila, Ana, Rodríguez‐Palomares, José F., Brugada, Ramón, Bayes‐Genis, Antoni, Dominguez, Fernando, García‐Pavía, Pablo
Publicado 2022

Risks of Ventricular Arrhythmia and Heart Failure in Carriers of RBM20 Variants

por Cannie, Douglas E., Protonotarios, Alexandros, Bakalakos, Athanasios, Syrris, Petros, Lorenzini, Massimiliano, De Stavola, Bianca, Bjerregaard, Louise, Dybro, Anne M., Hey, Thomas M., Hansen, Frederikke G., Navarro Peñalver, Marina, Crespo-Leiro, Maria G., Larrañaga-Moreira, Jose M., de Frutos, Fernando, Johnson, Renee, Slater, Thomas A., Monserrat, Lorenzo, Sengupta, Anshuman, Mestroni, Luisa, Taylor, Matthew R.G., Sinagra, Gianfranco, Bilinska, Zofia, Solla-Ruiz, Itziar, Arana Achaga, Xabier, Barriales-Villa, Roberto, Garcia-Pavia, Pablo, Gimeno, Juan R., Dal Ferro, Matteo, Merlo, Marco, Wahbi, Karim, Fatkin, Diane, Mogensen, Jens, Rasmussen, Torsten B., Elliott, Perry M.
Publicado 2023

Importance of genotype for risk stratification in arrhythmogenic right ventricular cardiomyopathy using the 2019 ARVC risk calculator( )

por Protonotarios, Alexandros, Bariani, Riccardo, Cappelletto, Chiara, Pavlou, Menelaos, García-García, Alba, Cipriani, Alberto, Protonotarios, Ioannis, Rivas, Adrian, Wittenberg, Regitze, Graziosi, Maddalena, Xylouri, Zafeirenia, Larrañaga-Moreira, José M, de Luca, Antonio, Celeghin, Rudy, Pilichou, Kalliopi, Bakalakos, Athanasios, Lopes, Luis Rocha, Savvatis, Konstantinos, Stolfo, Davide, Dal Ferro, Matteo, Merlo, Marco, Basso, Cristina, Freire, Javier Limeres, Rodriguez-Palomares, Jose F, Kubo, Toru, Ripoll-Vera, Tomas, Barriales-Villa, Roberto, Antoniades, Loizos, Mogensen, Jens, Garcia-Pavia, Pablo, Wahbi, Karim, Biagini, Elena, Anastasakis, Aris, Tsatsopoulou, Adalena, Zorio, Esther, Gimeno, Juan R, Garcia-Pinilla, Jose Manuel, Syrris, Petros, Sinagra, Gianfranco, Bauce, Barbara, Elliott, Perry M
Publicado 2022

Impact of SARS‐Cov‐2 infection in patients with hypertrophic cardiomyopathy: results of an international multicentre registry

por Gimeno, Juan R., Olivotto, Iacopo, Rodríguez, Ana Isabel, Ho, Carolyn Y., Fernández, Adrián, Quiroga, Alejandro, Espinosa, Mari Angeles, Gómez‐González, Cristina, Robledo, María, Tojal‐Sierra, Lucas, Day, Sharlene M., Owens, Anjali, Barriales‐Villa, Roberto, Larrañaga, Jose María, Rodríguez‐Palomares, Jose, González‐del‐Hoyo, Maribel, Piqueras‐Flores, Jesús, Reza, Nosheen, Chumakova, Olga, Ashley, Euan A., Parikh, Victoria, Wheeler, Matthew, Jacoby, Daniel, Pereira, Alexandre C., Saberi, Sara, Helms, Adam S., Villacorta, Eduardo, Gallego‐Delgado, María, de Castro, Daniel, Domínguez, Fernando, Ripoll‐Vera, Tomás, Zorio‐Grima, Esther, Sánchez‐Martínez, José Carlos, García‐Álvarez, Ana, Arbelo, Elena, Mogollón, María Victoria, Fuentes‐Cañamero, María Eugenia, Grande, Elias, Peña, Carlos, Monserrat, Lorenzo, Lakdawala, Neal K.
Publicado 2022

The role of the electrocardiographic phenotype in risk stratification for sudden cardiac death in childhood hypertrophic cardiomyopathy

por Norrish, Gabrielle, Topriceanu, Cristian, Qu, Chen, Field, Ella, Walsh, Helen, Ziółkowska, Lidia, Olivotto, Iacopo, Passantino, Silvia, Favilli, Silvia, Anastasakis, Aris, Vlagkouli, Vasiliki, Weintraub, Robert, King, Ingrid, Biagini, Elena, Ragni, Luca, Prendiville, Terrence, Duignan, Sophie, McLeod, Karen, Ilina, Maria, Fernández, Adrian, Bökenkamp, Regina, Baban, Anwar, Drago, Fabrizio, Kubuš, Peter, Daubeney, Piers E F, Chivers, Sian, Sarquella-Brugada, Georgia, Cesar, Sergi, Marrone, Chiara, Medrano, Constancio, Alvarez Garcia-Roves, Reyes, Uzun, Orhan, Gran, Ferran, Castro, Fernandez J, Gimeno, Juan R, Barriales-Villa, Roberto, Rueda, Fernando, Adwani, Satish, Searle, Jonathan, Bharucha, Tara, Siles, Ana, Usano, Ana, Rasmussen, Torsten B, Jones, Caroline B, Kubo, Toru, Mogensen, Jens, Reinhardt, Zdenka, Cervi, Elena, Elliott, Perry M, Omar, Rumana Z, Kaski, Juan P
Publicado 2021

Relationship Between Maximal Left Ventricular Wall Thickness and Sudden Cardiac Death in Childhood Onset Hypertrophic Cardiomyopathy

por Norrish, Gabrielle, Ding, Tao, Field, Ella, Cervi, Elena, Ziółkowska, Lidia, Olivotto, Iacopo, Khraiche, Diala, Limongelli, Giuseppe, Anastasakis, Aris, Weintraub, Robert, Biagini, Elena, Ragni, Luca, Prendiville, Terrence, Duignan, Sophie, McLeod, Karen, Ilina, Maria, Fernández, Adrián, Marrone, Chiara, Bökenkamp, Regina, Baban, Anwar, Kubus, Peter, Daubeney, Piers E.F., Sarquella-Brugada, Georgia, Cesar, Sergi, Klaassen, Sabine, Ojala, Tiina H., Bhole, Vinay, Medrano, Constancio, Uzun, Orhan, Brown, Elspeth, Gran, Ferran, Sinagra, Gianfranco, Castro, Francisco J., Stuart, Graham, Vignati, Gabriele, Yamazawa, Hirokuni, Barriales-Villa, Roberto, Garcia-Guereta, Luis, Adwani, Satish, Linter, Katie, Bharucha, Tara, Garcia-Pavia, Pablo, Siles, Ana, Rasmussen, Torsten B., Calcagnino, Margherita, Jones, Caroline B., De Wilde, Hans, Kubo, Toru, Felice, Tiziana, Popoiu, Anca, Mogensen, Jens, Mathur, Sujeev, Centeno, Fernando, Reinhardt, Zdenka, Schouvey, Sylvie, O’Mahony, Costas, Omar, Rumana Z., Elliott, Perry M., Kaski, Juan Pablo
Publicado 2022

Clinical Features and Natural History of Preadolescent Nonsyndromic Hypertrophic Cardiomyopathy

por Norrish, Gabrielle, Cleary, Aoife, Field, Ella, Cervi, Elena, Boleti, Olga, Ziółkowska, Lidia, Olivotto, Iacopo, Khraiche, Diala, Limongelli, Giuseppe, Anastasakis, Aris, Weintraub, Robert, Biagini, Elena, Ragni, Luca, Prendiville, Terence, Duignan, Sophie, McLeod, Karen, Ilina, Maria, Fernandez, Adrian, Marrone, Chiara, Bökenkamp, Regina, Baban, Anwar, Kubus, Peter, Daubeney, Piers E.F., Sarquella-Brugada, Georgia, Cesar, Sergi, Klaassen, Sabine, Ojala, Tiina H., Bhole, Vinay, Medrano, Constancio, Uzun, Orhan, Brown, Elspeth, Gran, Ferran, Sinagra, Gianfranco, Castro, Francisco J., Stuart, Graham, Yamazawa, Hirokuni, Barriales-Villa, Roberto, Garcia-Guereta, Luis, Adwani, Satish, Linter, Katie, Bharucha, Tara, Gonzales-Lopez, Esther, Siles, Ana, Rasmussen, Torsten B., Calcagnino, Margherita, Jones, Caroline B., De Wilde, Hans, Kubo, Toru, Felice, Tiziana, Popoiu, Anca, Mogensen, Jens, Mathur, Sujeev, Centeno, Fernando, Reinhardt, Zdenka, Schouvey, Sylvie, Elliott, Perry M., Kaski, Juan Pablo
Publicado 2022