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Page 1
Phenotypic Expression and Outcomes in Patients with the p.Arg301Gln GLA Variant in Anderson-Fabry Disease.
Blanco R, Rico-Ramírez Y, Hermida-Ameijeiras Á, Abdullah IMS, Lau K, Alvarez-Rubio J, Fortuny E, Martínez-Monzonís A, Nowak A, Nordbeck P, Veras-Burgos C, Pons-Llinares J, Rossi E, Caimi-Martínez F, Bosch-Rovira T, Alamar-Cervera M, Ruiz-Pizarro V, Torres-Juan L, Heine-Suñer D, Ripoll-Vera T. Blanco R, et al. Among authors: alvarez rubio j. Int J Mol Sci. 2024 Apr 12;25(8):4299. doi: 10.3390/ijms25084299. Int J Mol Sci. 2024. PMID: 38673884 Free PMC article.
Natural History of MYH7-Related Dilated Cardiomyopathy.
de Frutos F, Ochoa JP, Navarro-Peñalver M, Baas A, Bjerre JV, Zorio E, Méndez I, Lorca R, Verdonschot JAJ, García-Granja PE, Bilinska Z, Fatkin D, Fuentes-Cañamero ME, García-Pinilla JM, García-Álvarez MI, Girolami F, Barriales-Villa R, Díez-López C, Lopes LR, Wahbi K, García-Álvarez A, Rodríguez-Sánchez I, Rekondo-Olaetxea J, Rodríguez-Palomares JF, Gallego-Delgado M, Meder B, Kubanek M, Hansen FG, Restrepo-Córdoba MA, Palomino-Doza J, Ruiz-Guerrero L, Sarquella-Brugada G, Perez-Perez AJ, Bermúdez-Jiménez FJ, Ripoll-Vera T, Rasmussen TB, Jansen M, Sabater-Molina M, Elliot PM, Garcia-Pavia P; European Genetic Cardiomyopathies Initiative Investigators. de Frutos F, et al. J Am Coll Cardiol. 2022 Oct 11;80(15):1447-1461. doi: 10.1016/j.jacc.2022.07.023. Epub 2022 Aug 22. J Am Coll Cardiol. 2022. PMID: 36007715 Free article.
Fabry cardiomyopathy: parametric mapping adds even more.
Ruiz Pizarro V, Álvarez Rubio J, Soleto Roncero MJ, Ripoll-Vera T. Ruiz Pizarro V, et al. Among authors: alvarez rubio j. Rev Esp Cardiol (Engl Ed). 2022 Oct;75(10):845-847. doi: 10.1016/j.rec.2022.03.010. Epub 2022 Jun 5. Rev Esp Cardiol (Engl Ed). 2022. PMID: 35676176 English, Spanish. No abstract available.
New Variant in Placophilin-2 Gene Causing Arrhythmogenic Myocardiopathy.
Caimi-Martinez F, Antoniutti G, Blanco R, García de la Villa B, Alvarenga N, Govea-Callizo N, Torres-Juan L, Heine-Suñer D, Rosell-Andreo J, Luengos DC, Alvarez-Rubio J, Ripoll-Vera T. Caimi-Martinez F, et al. Among authors: alvarez rubio j. Genes (Basel). 2022 Apr 27;13(5):782. doi: 10.3390/genes13050782. Genes (Basel). 2022. PMID: 35627167 Free PMC article.
Characterization of hereditary transthyretin cardiac amyloidosis in Spain.
Álvarez Rubio J, Manovel Sánchez AJ, González-Costello J, García-Pavía P, Limeres Freire J, García-Pinilla JM, Zorio Grima E, García-Álvarez A, Valverde Gómez M, Espinosa Castro MÁ, Barge-Caballero G, Gimeno Blanes JR, Bosch Rovira MT, Rincón Díaz LM, Aibar Arregui MÁ, Gallego-Delgado M, Jiménez-Jáimez J, Martínez Moreno M, Basurte M, Arana Achaga X, Hernández Baldomero IF, Ripoll-Vera T; AC-TTRv-Spain Investigator Group. Álvarez Rubio J, et al. Rev Esp Cardiol (Engl Ed). 2022 Jun;75(6):488-495. doi: 10.1016/j.rec.2021.07.020. Epub 2021 Oct 26. Rev Esp Cardiol (Engl Ed). 2022. PMID: 34711514 English, Spanish.
Case Report: A Novel NKX2-5 Mutation in a Family With Congenital Heart Defects, Left Ventricular Non-compaction, Conduction Disease, and Sudden Cardiac Death.
Morlanes-Gracia P, Antoniutti G, Alvarez-Rubio J, Torres-Juan L, Heine-Suñer D, Ripoll-Vera T. Morlanes-Gracia P, et al. Among authors: alvarez rubio j. Front Cardiovasc Med. 2021 Jul 1;8:691203. doi: 10.3389/fcvm.2021.691203. eCollection 2021. Front Cardiovasc Med. 2021. PMID: 34277740 Free PMC article.
Association of Left Ventricular Systolic Dysfunction Among Carriers of Truncating Variants in Filamin C With Frequent Ventricular Arrhythmia and End-stage Heart Failure.
Akhtar MM, Lorenzini M, Pavlou M, Ochoa JP, O'Mahony C, Restrepo-Cordoba MA, Segura-Rodriguez D, Bermúdez-Jiménez F, Molina P, Cuenca S, Ader F, Larrañaga-Moreira JM, Sabater-Molina M, Garcia-Alvarez MI, Arantzamendi LG, Truszkowska G, Ortiz-Genga M, Ruiz IS, Nielsen SK, Rasmussen TB, Robles Mezcua A, Alvarez-Rubio J, Eiskjaer H, Gautel M, Garcia-Pinilla JM, Ripoll-Vera T, Mogensen J, Limeres Freire J, Rodríguez-Palomares JF, Peña-Peña ML, Rangel-Sousa D, Palomino-Doza J, Arana Achaga X, Bilinska Z, Zamarreño Golvano E, Climent V, Peñalver MN, Barriales-Villa R, Charron P, Yotti R, Zorio E, Jiménez-Jáimez J, Garcia-Pavia P, Elliott PM; European Genetic Cardiomyopathies Initiative Investigators. Akhtar MM, et al. Among authors: alvarez rubio j. JAMA Cardiol. 2021 Aug 1;6(8):891-901. doi: 10.1001/jamacardio.2021.1106. JAMA Cardiol. 2021. PMID: 33978673 Free PMC article.
Sudden cardiac death in persons aged 50 years or younger: diagnostic yield of a regional molecular autopsy program using massive sequencing.
Ripoll-Vera T, Pérez Luengo C, Borondo Alcázar JC, García Ruiz AB, Sánchez Del Valle N, Barceló Martín B, Poncela García JL, Gutiérrez Buitrago G, Dasi Martínez C, Canós Villena JC, Moyano Corvillo S, Esgueva Pallarés R, Sancho Sancho JR, Guitart Pinedo G, Hernández Marín E, García García E, Vingut López A, Álvarez Rubio J, Govea Callizo N, Gómez Pérez Y, Melià Mesquida C, Heine D, Rosell Andreo J, Socías Crespí L. Ripoll-Vera T, et al. Among authors: alvarez rubio j. Rev Esp Cardiol (Engl Ed). 2021 May;74(5):402-413. doi: 10.1016/j.rec.2020.03.030. Epub 2020 Sep 8. Rev Esp Cardiol (Engl Ed). 2021. PMID: 32917565 English, Spanish.
Association between aortic stenosis and hereditary transthyretin amyloidosis.
Ripoll-Vera T, Álvarez Rubio J, Iglesias M, Losada López I, Ferrer-Nadal A, González Moreno J. Ripoll-Vera T, et al. Among authors: alvarez rubio j. Rev Esp Cardiol (Engl Ed). 2021 Feb;74(2):185-187. doi: 10.1016/j.rec.2020.05.037. Epub 2020 Aug 7. Rev Esp Cardiol (Engl Ed). 2021. PMID: 32778403 English, Spanish. No abstract available.
12 results