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Dilated Cardiomyopathy Due to BLC2-Associated Athanogene 3 (BAG3) Mutations.
Domínguez F, Cuenca S, Bilińska Z, Toro R, Villard E, Barriales-Villa R, Ochoa JP, Asselbergs F, Sammani A, Franaszczyk M, Akhtar M, Coronado-Albi MJ, Rangel-Sousa D, Rodriguez-Palomares JF, Jiménez-Jáimez J, Garcia-Pinilla JM, Ripoll-Vera T, Mogollón-Jiménez MV, Fontalba-Romero A, Garcia-Medina D, Palomino-Doza J, de Gonzalo-Calvo D, Cicerchia M, Salazar-Mendiguchia J, Salas C, Pankuweit S, Hey TM, Mogensen J, Barton PJ, Charron P, Elliott P, Garcia-Pavia P; European Genetic Cardiomyopathies Initiative Investigators. Domínguez F, et al. J Am Coll Cardiol. 2018 Nov 13;72(20):2471-2481. doi: 10.1016/j.jacc.2018.08.2181. J Am Coll Cardiol. 2018. PMID: 30442290 Free PMC article.
Plan of Action for Inherited Cardiovascular Diseases: Synthesis of Recommendations and Action Algorithms.
Barriales-Villa R, Gimeno-Blanes JR, Zorio-Grima E, Ripoll-Vera T, Evangelista-Masip A, Moya-Mitjans A, Serratosa-Fernández L, Albert-Brotons DC, García-Pinilla JM, García-Pavía P. Barriales-Villa R, et al. Rev Esp Cardiol (Engl Ed). 2016 Mar;69(3):300-9. doi: 10.1016/j.rec.2015.11.029. Epub 2016 Feb 6. Rev Esp Cardiol (Engl Ed). 2016. PMID: 26856793
Calmodulin 2 Mutation N98S Is Associated with Unexplained Cardiac Arrest in Infants Due to Low Clinical Penetrance Electrical Disorders.
Jiménez-Jáimez J, Palomino Doza J, Ortega Á, Macías-Ruiz R, Perin F, Rodríguez-Vázquez del Rey MM, Ortiz-Genga M, Monserrat L, Barriales-Villa R, Blanca E, Álvarez M, Tercedor L. Jiménez-Jáimez J, et al. PLoS One. 2016 Apr 21;11(4):e0153851. doi: 10.1371/journal.pone.0153851. eCollection 2016. PLoS One. 2016. PMID: 27100291 Free PMC article.
Truncating FLNC Mutations Are Associated With High-Risk Dilated and Arrhythmogenic Cardiomyopathies.
Ortiz-Genga MF, Cuenca S, Dal Ferro M, Zorio E, Salgado-Aranda R, Climent V, Padrón-Barthe L, Duro-Aguado I, Jiménez-Jáimez J, Hidalgo-Olivares VM, García-Campo E, Lanzillo C, Suárez-Mier MP, Yonath H, Marcos-Alonso S, Ochoa JP, Santomé JL, García-Giustiniani D, Rodríguez-Garrido JL, Domínguez F, Merlo M, Palomino J, Peña ML, Trujillo JP, Martín-Vila A, Stolfo D, Molina P, Lara-Pezzi E, Calvo-Iglesias FE, Nof E, Calò L, Barriales-Villa R, Gimeno-Blanes JR, Arad M, García-Pavía P, Monserrat L. Ortiz-Genga MF, et al. J Am Coll Cardiol. 2016 Dec 6;68(22):2440-2451. doi: 10.1016/j.jacc.2016.09.927. J Am Coll Cardiol. 2016. PMID: 27908349 Free article.
Direct oral anticoagulants in patients with hypertrophic cardiomyopathy and atrial fibrillation.
Dominguez F, Climent V, Zorio E, Ripoll-Vera T, Salazar-Mendiguchía J, García-Pinilla JM, Urbano-Moral JA, Fernández-Fernández X, Lopez-Cuenca D, Ajo-Ferrer R, Sanz-Sanchez J, Gomez-Perez Y, López-Garrido MA, Barriales-Villa R, Gimeno JR, Garcia-Pavia P. Dominguez F, et al. Int J Cardiol. 2017 Dec 1;248:232-238. doi: 10.1016/j.ijcard.2017.08.010. Epub 2017 Aug 7. Int J Cardiol. 2017. PMID: 28811092 Free article.
The p.Arg118Cys Variant in the GLA Gene Does Not Cause Fabry Disease. More Evidence.
Barbeito-Caamaño C, Cao-Vilariño M, Mosquera-Reboredo J, García-Pavía P, Monserrat-Iglesias L, Barriales-Villa R. Barbeito-Caamaño C, et al. Rev Esp Cardiol (Engl Ed). 2018 Oct;71(10):871-873. doi: 10.1016/j.rec.2017.08.007. Epub 2017 Sep 21. Rev Esp Cardiol (Engl Ed). 2018. PMID: 28941980 English, Spanish. No abstract available.
First Reported Case of Fabry Disease Caused by a Somatic Mosaicism in the GLA Gene.
Barriales-Villa R, Ochoa JP, Santomé-Collazo JL, Mosquera-Reboredo J, Cao-Vilariño M, Monserrat L. Barriales-Villa R, et al. Rev Esp Cardiol (Engl Ed). 2019 Jul;72(7):585-587. doi: 10.1016/j.rec.2018.06.013. Epub 2018 Jul 18. Rev Esp Cardiol (Engl Ed). 2019. PMID: 30029973 English, Spanish. No abstract available.
Formin Homology 2 Domain Containing 3 (FHOD3) Is a Genetic Basis for Hypertrophic Cardiomyopathy.
Ochoa JP, Sabater-Molina M, García-Pinilla JM, Mogensen J, Restrepo-Córdoba A, Palomino-Doza J, Villacorta E, Martinez-Moreno M, Ramos-Maqueda J, Zorio E, Peña-Peña ML, García-Granja PE, Rodríguez-Palomares JF, Cárdenas-Reyes IJ, de la Torre-Carpente MM, Bautista-Pavés A, Akhtar MM, Cicerchia MN, Bilbao-Quesada R, Mogollón-Jimenez MV, Salazar-Mendiguchía J, Mesa Latorre JM, Arnaez B, Olavarri-Miguel I, Fuentes-Cañamero ME, Lamounier A Jr, Pérez Ruiz JM, Climent-Payá V, Pérez-Sanchez I, Trujillo-Quintero JP, Lopes LR, Repáraz-Andrade A, Marín-Iglesias R, Rodriguez-Vilela A, Sandín-Fuentes M, Garrote JA, Cortel-Fuster A, Lopez-Garrido M, Fontalba-Romero A, Ripoll-Vera T, Llano-Rivas I, Fernandez-Fernandez X, Isidoro-García M, Garcia-Giustiniani D, Barriales-Villa R, Ortiz-Genga M, García-Pavía P, Elliott PM, Gimeno JR, Monserrat L. Ochoa JP, et al. J Am Coll Cardiol. 2018 Nov 13;72(20):2457-2467. doi: 10.1016/j.jacc.2018.10.001. J Am Coll Cardiol. 2018. PMID: 30442288 Free article.
127 results