Sudden cardiac death triggered by minimal alcohol consumption in the context of novel PPA2 mutations in 2 unrelated families
Gómez González, Cristina, del Campo Cano, Iván, Isabel Fernández-Avila, Ana, Paz Suárez – Mier, Maria, José Sagastizábal, María, Álvarez García-Rovés, Reyes, Méndez Fernández, Irene, Vilches, Silvia, Centeno Jiménez, Miriam, Siles Sánchez –Manjavacas, Ana, Usano Carrasco, Ana, Gonzalez-Vioque, Emiliano, Pablo Ochoa, Juan, Medrano, Constancio, González López, Esther, García-Pavía, Pablo, Bermejo, Javier, Angeles Espinosa Castro, María
Published in Gene (20.07.2024)
Published in Gene (20.07.2024)
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Journal Article
Prognostic implications of pathogenic truncating variants in the TTN gene
Peña-Peña, Maria Luisa, Ochoa, Juan Pablo, Barriales-Villa, Roberto, Cicerchia, Marcos, Palomino-Doza, Julián, Salazar-Mendiguchía, Joel, Lamounier, Arsonval, Trujillo, Juan Pablo, Garcia-Giustiniani, Diego, Fernandez, Xusto, Ortiz-Genga, Martin, Monserrat, Lorenzo, Crespo-Leiro, Maria Generosa
Published in International journal of cardiology (01.10.2020)
Published in International journal of cardiology (01.10.2020)
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Journal Article
Identification of Two Homozygous Variants in MYBPC3 and SMYD1 Genes Associated with Severe Infantile Cardiomyopathy
Szulik, Marta W, Reyes-Múgica, Miguel, Marker, Daniel F, Gomez, Ana M, Zinn, Matthew D, Walsh, Leslie K, Ochoa, Juan Pablo, Franklin, Sarah, Ghaloul-Gonzalez, Lina
Published in Genes (06.03.2023)
Published in Genes (06.03.2023)
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Journal Article
Severe heart failure in the setting of inflammatory cardiomyopathy with likely pathogenic titin variant
Mueller, Melina, Zwinger, Lilli, Klaassen, Sabine, Poller, Wolfgang, Monserrat Iglesias, Lorenzo, Pablo Ochoa, Juan, Klingel, Karin, Landmesser, Ulf, Heidecker, Bettina
Published in International journal of cardiology. Heart & vasculature (01.04.2022)
Published in International journal of cardiology. Heart & vasculature (01.04.2022)
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Journal Article
Agavin induces beneficial microbes in the shrimp microbiota under farming conditions
Ochoa-Romo, Juan Pablo, Cornejo-Granados, Fernanda, Lopez-Zavala, Alonso A., Viana, María Teresa, Sánchez, Filiberto, Gallardo-Becerra, Luigui, Luque-Villegas, Mirna, Valdez-López, Yesenia, Sotelo-Mundo, Rogerio R., Cota-Huízar, Andrés, López-Munguia, Agustín, Ochoa-Leyva, Adrian
Published in Scientific reports (16.04.2022)
Published in Scientific reports (16.04.2022)
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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
First Reported Case of Fabry Disease Caused by a Somatic Mosaicism in the GLA Gene
Barriales-Villa, Roberto, Ochoa, Juan Pablo, Santomé-Collazo, José Luis, Mosquera-Reboredo, Juan, Cao-Vilariño, Mercedes, Monserrat, Lorenzo
Published in Revista española de cardiología (English ed.) (01.07.2019)
Published in Revista española de cardiología (English ed.) (01.07.2019)
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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
Yield of Clinical Screening for Hypertrophic Cardiomyopathy in Child First-Degree Relatives: Evidence for a Change in Paradigm
Norrish, Gabrielle, Jager, Joanna, Field, Ella, Quinn, Ellie, Fell, Hannah, Lord, Emma, Cicerchia, Marcos N, Ochoa, Juan Pablo, Cervi, Elena, Elliott, Perry M, Kaski, Juan Pablo
Published in Circulation (New York, N.Y.) (16.07.2019)
Published in Circulation (New York, N.Y.) (16.07.2019)
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Journal Article
Dilated Cardiomyopathy Due to BLC2-Associated Athanogene 3 (BAG3) Mutations
Domínguez, Fernando, Cuenca, Sofía, Bilińska, Zofia, Toro, Rocío, Villard, Eric, Barriales-Villa, Roberto, Ochoa, Juan Pablo, Asselbergs, Folkert, Sammani, Arjan, Franaszczyk, Maria, Akhtar, Mohammed, Coronado-Albi, Maria José, Rangel-Sousa, Diego, Rodriguez-Palomares, Jose F., Jiménez-Jáimez, Juan, Garcia-Pinilla, José Manuel, Ripoll-Vera, Tomás, Mogollón-Jiménez, Maria Victoria, Fontalba-Romero, Ana, Garcia-Medina, Dolores, Palomino-Doza, Julian, de Gonzalo-Calvo, David, Cicerchia, Marcos, Salazar-Mendiguchia, Joel, Salas, Clara, Pankuweit, Sabine, Hey, Thomas Morris, Mogensen, Jens, Barton, Paul J., Charron, Philippe, Elliott, Perry, Garcia-Pavia, Pablo, Eiskjær, Hans, Barriales, Roberto, Fernández Fernández, Xusto, Cicerchia, Marcos, Monserrat, Lorenzo, Ochoa, Juan Pablo, Salazar-Mendiguchia, Joel, Mogollón, Maria Victoria, Ripoll, Tomás, Charron, Philippe, Richard, Pascale, Villard, Eric, Palomino Doza, Julian, Fontalba, Ana, Alonso-Pulpón, Luis, Cobo-Marcos, Marta, Domínguez, Fernando, Garcia-Pavia, Pablo, Gómez-Bueno, Manuel, González-López, Esther, Hernández-Hernández, Aitor, Hernández-Pérez, Francisco José, López-Sainz, Ángela, Restrepo-Córdoba, Alejandra, Segovia-Cubero, Javier, Toro, Rocio, de Gonzalo-Calvo, David, Rosa Longobardo, Félix, Limeres, Javier, Rodriguez-Palomares, Jose F., Garcia-Pinilla, Jose Manuel, López-Garrido, Miguel A., Jiménez-Jaimez, Juan, Garcia-Medina, Dolores, Rangel Sousa, Diego, Peña, Maria Luisa, Mogensen, Jens, Morris-Hey, Thomas, Barton, Paul J., Cook, Stuart A., Midwinter, William, Roberts, Angharad M., Ware, James S., Walsh, Roddy, Akhtar, Mohammed, Elliott, Perry M., Rocha-Lopes, Luis, Savvatis, Konstantinos, Syrris, Petros, Michalak, Ewa, Ploski, Rafal, Sobieszczanska-Malek, Malgorzata, Bilińska, Zofia, Pankuweit, Sabine, Asselbergs, Folkert, Baas, Annette, Dooijes, Dennis, Sammani, Arjan
Published in Journal of the American College of Cardiology (13.11.2018)
Published in Journal of the American College of Cardiology (13.11.2018)
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Journal Article
Clinical Phenotypes and Prognosis of Dilated Cardiomyopathy Caused by Truncating Variants in the TTN Gene
Akhtar, Mohammed Majid, Lorenzini, Massimiliano, Cicerchia, Marcos, Ochoa, Juan Pablo, Hey, Thomas Morris, Sabater Molina, Maria, Restrepo-Cordoba, Maria Alejandra, Dal Ferro, Matteo, Stolfo, Davide, Johnson, Renee, Larrañaga-Moreira, José M, Robles-Mezcua, Ainhoa, Rodriguez-Palomares, Jose F, Casas, Guillem, Peña-Peña, Maria Luisa, Lopes, Luis Rocha, Gallego-Delgado, Maria, Franaszczyk, Maria, Laucey, Gemma, Rangel-Sousa, Diego, Basurte, Mayte, Palomino-Doza, Julian, Villacorta, Eduardo, Bilinska, Zofia, Limeres Freire, Javier, Garcia Pinilla, José M, Barriales-Villa, Roberto, Fatkin, Diane, Sinagra, Gianfranco, Garcia-Pavia, Pablo, Gimeno, Juan R, Mogensen, Jens, Monserrat, Lorenzo, Elliott, Perry M
Published in Circulation. Heart failure (01.10.2020)
Published in Circulation. Heart failure (01.10.2020)
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Journal Article
Natural History of MYH7-Related Dilated Cardiomyopathy
de Frutos, Fernando, Ochoa, Juan Pablo, Navarro-Peñalver, Marina, Baas, Annette, Bjerre, Jesper Vandborg, Zorio, Esther, Méndez, Irene, Lorca, Rebeca, Verdonschot, Job A.J., García-Granja, Pablo Elpidio, Bilinska, Zofia, Fatkin, Diane, Fuentes-Cañamero, M. Eugenia, García-Pinilla, José M., García-Álvarez, María I., Girolami, Francesca, Barriales-Villa, Roberto, Díez-López, Carles, Lopes, Luis R., Wahbi, Karim, García-Álvarez, Ana, Rodríguez-Sánchez, Ibon, Rekondo-Olaetxea, Javier, Rodríguez-Palomares, José F., Gallego-Delgado, María, Meder, Benjamin, Kubanek, Milos, Hansen, Frederikke G., Restrepo-Córdoba, María Alejandra, Palomino-Doza, Julián, Ruiz-Guerrero, Luis, Sarquella-Brugada, Georgia, Perez-Perez, Alberto José, Bermúdez-Jiménez, Francisco José, Ripoll-Vera, Tomas, Rasmussen, Torsten Bloch, Jansen, Mark, Sabater-Molina, Maria, Elliot, Perry M., Garcia-Pavia, Pablo, Cabrera-Romero, Eva, Cobo-Marcos, Marta, Escobar-Lopez, Luis, Domínguez, Fernando, González-López, Esther, Gimeno-Blanes, Juan Ramón, Dooijes, Dennis, López Ledesma, Bernabé, Roche Fortea, Inés, Bermejo, Javier, Espinosa, Maria Angeles, Fernández, Ana Isabel, Vilches, Silvia, Gómez, Cristina, Gómez, Juan, Coto, Eliecer, Rodríguez Reguero, José Julián, Heymans, S.R.B., Brunner, H.G., López-Díaz, Javier, Truszkowska, Grażyna, Ploski, Rafal, Chmielewski, Przemysław, Johnson, Renee, Robles-Mezcua, Ainhoa, Díaz-Expósito, Arancha, Pérez-Cabeza, Alejandro I., Jiménez-Rubio, Clara, Payá, Vicente Climent, Favilli, Silvia, Syrris, Petros, Cannie, Douglas, Billon, Clarisse, Lopez-Sainz, Angela, Calvo, Margarita, Fernández de Bobadilla, Ángela Cacicedo, Onaindia-Gandarias, Jose Juan, Gaztañaga-Arantzamendi, Larraitz, Zamarreño-Golvano, Estibaliz, Limeres, Javier, Gutiérrez-García, Laura, Villacorta, Eduardo, Haas, Jan, Krebsova, Alice, Mogensen, Jens, Cesar, Sergi, Campuzano, Oscar, Gutiérrez, Raúl Franco, Alvarez-Rubio, Jorge, Cremer-Luengos, David, Antoniutti, Guido, Caimi-Martinez, Fiama, Macías, Rosa, Jiménez-Jáimez, Juan, Peña-Peña, María Luisa, Díez-Aja López, Salvador Lucas, Acereda, Tania Pino, Corada, Blanca Arnáez, Piqueras-Flores, Jesús, Negreira-Caamaño, Martin
Published in Journal of the American College of Cardiology (11.10.2022)
Published in Journal of the American College of Cardiology (11.10.2022)
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Journal Article
Reply
Ochoa, Juan Pablo, Elliott, Perry M., Gimeno, Juan R., Monserrat, Lorenzo
Published in Journal of the American College of Cardiology (01.03.2019)
Published in Journal of the American College of Cardiology (01.03.2019)
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Journal Article
Structural basis of domain destabilization by dilated-cardiomyopathy-causing missense mutations in titin
Martinez-Martin, Ines, Crousilles, Audrey, Herrero-Galan, Elias, Velazquez-Carreras, Diana, Mortensen, Simon A., Pablo Ochoa, Juan, Garcia-Pavia, Pablo, de Sancho, David, Wilmanns, Matthias, Alegre-Cebollada, Jorge
Published in Biophysical journal (10.02.2023)
Published in Biophysical journal (10.02.2023)
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Journal Article
Clinical Risk Score to Predict Pathogenic Genotypes in Patients With Dilated Cardiomyopathy
Escobar-Lopez, Luis, Ochoa, Juan Pablo, Royuela, Ana, Verdonschot, Job A J, Dal Ferro, Matteo, Espinosa, Maria Angeles, Sabater-Molina, Maria, Gallego-Delgado, Maria, Larrañaga-Moreira, Jose M, Garcia-Pinilla, Jose M, Basurte-Elorz, Maria Teresa, Rodríguez-Palomares, José F, Climent, Vicente, Bermudez-Jimenez, Francisco J, Mogollón-Jiménez, María Victoria, Lopez, Javier, Peña-Peña, Maria Luisa, Garcia-Alvarez, Ana, López-Abel, Bernardo, Ripoll-Vera, Tomas, Palomino-Doza, Julian, Bayes-Genis, Antoni, Brugada, Ramon, Idiazabal, Uxua, Mirelis, Jesus G, Dominguez, Fernando, Henkens, Michiel T H M, Krapels, Ingrid P C, Brunner, Han G, Paldino, Alessia, Zaffalon, Denise, Mestroni, Luisa, Sinagra, Gianfranco, Heymans, Stephane R B, Merlo, Marco, Garcia-Pavia, Pablo
Published in Journal of the American College of Cardiology (20.09.2022)
Published in Journal of the American College of Cardiology (20.09.2022)
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Journal Article