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Protein haploinsufficiency drivers identify MYBPC3 variants that cause hypertrophic cardiomyopathy.
Suay-Corredera C, Pricolo MR, Herrero-Galán E, Velázquez-Carreras D, Sánchez-Ortiz D, García-Giustiniani D, Delgado J, Galano-Frutos JJ, García-Cebollada H, Vilches S, Domínguez F, Molina MS, Barriales-Villa R, Frisso G, Sancho J, Serrano L, García-Pavía P, Monserrat L, Alegre-Cebollada J. Suay-Corredera C, et al. Among authors: monserrat l. J Biol Chem. 2021 Jul;297(1):100854. doi: 10.1016/j.jbc.2021.100854. Epub 2021 Jun 5. J Biol Chem. 2021. PMID: 34097875 Free PMC article.
Treatment of hypertrophic cardiomyopathy.
Penas-Lado M, Barriales-Villa R, Monserrat L. Penas-Lado M, et al. Among authors: monserrat l. Circulation. 2003 Apr 29;107(16):e110; auhor reply e110. doi: 10.1161/01.CIR.0000067695.32364.37. Circulation. 2003. PMID: 12719296 No abstract available.
A homozygous MYBPC3 gene mutation associated with a severe phenotype and a high risk of sudden death in a family with hypertrophic cardiomyopathy.
Ortiz MF, Rodríguez-García MI, Hermida-Prieto M, Fernández X, Veira E, Barriales-Villa R, Castro-Beiras A, Monserrat L. Ortiz MF, et al. Among authors: monserrat l. Rev Esp Cardiol. 2009 May;62(5):572-5. doi: 10.1016/s1885-5857(09)71841-9. Rev Esp Cardiol. 2009. PMID: 19406073 Free article. English, Spanish.
Insights into genotype-phenotype correlation in hypertrophic cardiomyopathy. Findings from 18 Spanish families with a single mutation in MYBPC3.
Oliva-Sandoval MJ, Ruiz-Espejo F, Monserrat L, Hermida-Prieto M, Sabater M, García-Molina E, Ortiz M, Rodríguez-García MI, Núñez L, Gimeno JR, Castro-Beiras A, Valdés M. Oliva-Sandoval MJ, et al. Among authors: monserrat l. Heart. 2010 Dec;96(24):1980-4. doi: 10.1136/hrt.2010.200402. Heart. 2010. PMID: 21088121
167 results