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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. Among authors: sabater molina m. 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.
Mutations in the NOTCH pathway regulator MIB1 cause left ventricular noncompaction cardiomyopathy.
Luxán G, Casanova JC, Martínez-Poveda B, Prados B, D'Amato G, MacGrogan D, Gonzalez-Rajal A, Dobarro D, Torroja C, Martinez F, Izquierdo-García JL, Fernández-Friera L, Sabater-Molina M, Kong YY, Pizarro G, Ibañez B, Medrano C, García-Pavía P, Gimeno JR, Monserrat L, Jiménez-Borreguero LJ, de la Pompa JL. Luxán G, et al. Among authors: sabater molina m. Nat Med. 2013 Feb;19(2):193-201. doi: 10.1038/nm.3046. Epub 2013 Jan 13. Nat Med. 2013. PMID: 23314057
An R1632C variant in the SCN5A gene causing Brugada syndrome.
García-Molina E, Sabater-Molina M, Muñoz C, Ruiz-Espejo F, Gimeno JR. García-Molina E, et al. Among authors: sabater molina m. Mol Med Rep. 2016 Jun;13(6):4677-80. doi: 10.3892/mmr.2016.5100. Epub 2016 Apr 11. Mol Med Rep. 2016. PMID: 27082542
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.
Hypertrophic cardiomyopathy.
Santos Mateo JJ, Sabater Molina M, Gimeno Blanes JR. Santos Mateo JJ, et al. Among authors: sabater molina m. Med Clin (Barc). 2018 Jun 8;150(11):434-442. doi: 10.1016/j.medcli.2017.09.013. Epub 2017 Nov 14. Med Clin (Barc). 2018. PMID: 29150126 Review. 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. Among authors: sabater molina m. 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. Among authors: sabater molina m, molina p. 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. Among authors: sabater molina m, molina p. 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.
46 results