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Page 1
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. JAMA Cardiol. 2021 Aug 1;6(8):891-901. doi: 10.1001/jamacardio.2021.1106. JAMA Cardiol. 2021. PMID: 33978673 Free PMC article.
A Novel Founder Mutation in MYBPC3: Phenotypic Comparison With the Most Prevalent MYBPC3 Mutation in Spain.
Sabater-Molina M, Saura D, García-Molina Sáez E, González-Carrillo J, Polo L, Pérez-Sánchez I, Olmo MDC, Oliva-Sandoval MJ, Barriales-Villa R, Carbonell P, Pascual-Figal D, Gimeno JR. Sabater-Molina M, et al. Rev Esp Cardiol (Engl Ed). 2017 Feb;70(2):105-114. doi: 10.1016/j.rec.2016.06.020. Epub 2016 Oct 28. Rev Esp Cardiol (Engl Ed). 2017. PMID: 28029522 English, Spanish.
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.
Filamin C variants are associated with a distinctive clinical and immunohistochemical arrhythmogenic cardiomyopathy phenotype.
Hall CL, Akhtar MM, Sabater-Molina M, Futema M, Asimaki A, Protonotarios A, Dalageorgou C, Pittman AM, Suarez MP, Aguilera B, Molina P, Zorio E, Hernández JP, Pastor F, Gimeno JR, Syrris P, McKenna WJ. Hall CL, et al. Int J Cardiol. 2020 May 15;307:101-108. doi: 10.1016/j.ijcard.2019.09.048. Epub 2019 Oct 8. Int J Cardiol. 2020. PMID: 31627847 Free article.
RNA sequencing-based transcriptome profiling of cardiac tissue implicates novel putative disease mechanisms in FLNC-associated arrhythmogenic cardiomyopathy.
Hall CL, Gurha P, Sabater-Molina M, Asimaki A, Futema M, Lovering RC, Suárez MP, Aguilera B, Molina P, Zorio E, Coarfa C, Robertson MJ, Cheedipudi SM, Ng KE, Delaney P, Hernández JP, Pastor F, Gimeno JR, McKenna WJ, Marian AJ, Syrris P. Hall CL, et al. Int J Cardiol. 2020 Mar 1;302:124-130. doi: 10.1016/j.ijcard.2019.12.002. Epub 2019 Dec 6. Int J Cardiol. 2020. PMID: 31843279 Free PMC article.
Clinical Features and Natural History of PRKAG2 Variant Cardiac Glycogenosis.
Lopez-Sainz A, Dominguez F, Lopes LR, Ochoa JP, Barriales-Villa R, Climent V, Linschoten M, Tiron C, Chiriatti C, Marques N, Rasmussen TB, Espinosa MÁ, Beinart R, Quarta G, Cesar S, Field E, Garcia-Pinilla JM, Bilinska Z, Muir AR, Roberts AM, Santas E, Zorio E, Peña-Peña ML, Navarro M, Fernandez A, Palomino-Doza J, Azevedo O, Lorenzini M, García-Álvarez MI, Bento D, Jensen MK, Méndez I, Pezzoli L, Sarquella-Brugada G, Campuzano O, Gonzalez-Lopez E, Mogensen J, Kaski JP, Arad M, Brugada R, Asselbergs FW, Monserrat L, Olivotto I, Elliott PM, Garcia-Pavia P; European Genetic Cardiomyopathies Initiative Investigators. Lopez-Sainz A, et al. J Am Coll Cardiol. 2020 Jul 14;76(2):186-197. doi: 10.1016/j.jacc.2020.05.029. J Am Coll Cardiol. 2020. PMID: 32646569 Free article.
Reasons for refusing diagnostic tests and therapeutic recommendations and associated complications in inherited heart diseases. The RELUCTANT study.
López Cuenca D, Orenes Moreno M, Olmo Conesa MC, Pastor Moreno A, Santos Mateo JJ, Muñoz Esparza C, Navarro Peñalver M, Castro García FJ, Sabater Molina M, Gimeno Blanes JR. López Cuenca D, et al. Rev Esp Cardiol (Engl Ed). 2021 Jun;74(6):526-532. doi: 10.1016/j.rec.2020.06.014. Epub 2020 Jul 22. Rev Esp Cardiol (Engl Ed). 2021. PMID: 32709565 English, Spanish.
Clinical Phenotypes and Prognosis of Dilated Cardiomyopathy Caused by Truncating Variants in the TTN Gene.
Akhtar MM, Lorenzini M, Cicerchia M, Ochoa JP, Hey TM, Sabater Molina M, Restrepo-Cordoba MA, Dal Ferro M, Stolfo D, Johnson R, Larrañaga-Moreira JM, Robles-Mezcua A, Rodriguez-Palomares JF, Casas G, Peña-Peña ML, Lopes LR, Gallego-Delgado M, Franaszczyk M, Laucey G, Rangel-Sousa D, Basurte M, Palomino-Doza J, Villacorta E, Bilinska Z, Limeres Freire J, Garcia Pinilla JM, Barriales-Villa R, Fatkin D, Sinagra G, Garcia-Pavia P, Gimeno JR, Mogensen J, Monserrat L, Elliott PM. Akhtar MM, et al. Circ Heart Fail. 2020 Oct;13(10):e006832. doi: 10.1161/CIRCHEARTFAILURE.119.006832. Epub 2020 Sep 23. Circ Heart Fail. 2020. PMID: 32964742 Free article.
Polymorphisms in ACE, ACE2, AGTR1 genes and severity of COVID-19 disease.
Sabater Molina M, Nicolás Rocamora E, Bendicho AI, Vázquez EG, Zorio E, Rodriguez FD, Gil Ortuño C, Rodríguez AI, Sánchez-López AJ, Jara Rubio R, Moreno-Docón A, Marcos PJ, García Pavía P, Villa RB, Gimeno Blanes JR. Sabater Molina M, et al. PLoS One. 2022 Feb 4;17(2):e0263140. doi: 10.1371/journal.pone.0263140. eCollection 2022. PLoS One. 2022. PMID: 35120165 Free PMC article.
49 results