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Page 1
Biallelic Loss of Function Variants in Myocardial Zonula Adherens Protein Gene (MYZAP) Cause a Severe Recessive Form of Dilated Cardiomyopathy.
Ochoa JP, Lalaguna L, Mirelis JG, Dominguez F, Gonzalez-Lopez E, Salas C, Roustan G, McGurk KA, Zheng SL, Barton PJR, Ware JS, Gómez-Gaviro MV, Lara-Pezzi E, Garcia-Pavia P. Ochoa JP, et al. Circ Heart Fail. 2024 Mar;17(3):e011226. doi: 10.1161/CIRCHEARTFAILURE.123.011226. Epub 2024 Mar 4. Circ Heart Fail. 2024. PMID: 38436102 Free PMC article. No abstract available.
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. Among authors: ochoa jp. 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.
Phenotype and Clinical Outcomes in Desmin-Related Arrhythmogenic Cardiomyopathy.
Bermudez-Jimenez FJ, Protonotarios A, García-Hernández S, Pérez Asensio A, Rampazzo A, Zorio E, Brodehl A, Arias MA, Macías-Ruiz R, Fernández-Armenta J, Remior Perez P, Muñoz-Esparza C, Pilichou K, Bauce B, Merino JL, Moliner-Abós C, Ochoa JP, Barriales-Villa R, Garcia-Pavia P, Lopes LR, Syrris P, Corrado D, Elliott PM, McKenna WJ, Jimenez-Jaimez J. Bermudez-Jimenez FJ, et al. Among authors: ochoa jp. JACC Clin Electrophysiol. 2024 Apr 23:S2405-500X(24)00177-4. doi: 10.1016/j.jacep.2024.02.031. Online ahead of print. JACC Clin Electrophysiol. 2024. PMID: 38727660
Penetrance of Dilated Cardiomyopathy in Genotype-Positive Relatives.
Cabrera-Romero E, Ochoa JP, Barriales-Villa R, Bermúdez-Jiménez FJ, Climent-Payá V, Zorio E, Espinosa MA, Gallego-Delgado M, Navarro-Peñalver M, Arana-Achaga X, Piqueras-Flores J, Espejo-Bares V, Rodríguez-Palomares JF, Lacuey-Lecumberri G, López J, Tiron C, Peña-Peña ML, García-Pinilla JM, Lorca R, Ripoll-Vera T, Díez-López C, Mogollon MV, García-Álvarez A, Martínez-Dolz L, Brion M, Larrañaga-Moreira JM, Jiménez-Jáimez J, García-Álvarez MI, Vilches S, Villacorta E, Sabater-Molina M, Solla-Ruiz I, Royuela A, Domínguez F, Mirelis JG, Garcia-Pavia P. Cabrera-Romero E, et al. Among authors: ochoa jp. J Am Coll Cardiol. 2024 Apr 30;83(17):1640-1651. doi: 10.1016/j.jacc.2024.02.036. J Am Coll Cardiol. 2024. PMID: 38658103 Free article.
Role of TBX20 Truncating Variants in Dilated Cardiomyopathy and Left Ventricular Noncompaction.
Amor-Salamanca A, Santana Rodríguez A, Rasoul H, Rodríguez-Palomares JF, Moldovan O, Hey TM, Delgado MG, Cuenca DL, de Castro Campos D, Basurte-Elorz MT, Macías-Ruiz R, Fuentes Cañamero ME, Galvin J, Bilbao Quesada R, de la Higuera Romero L, Trujillo-Quintero JP, García-Cruz LM, Cárdenas-Reyes I, Jiménez-Jáimez J, García-Hernández S, Valverde-Gómez M, Gómez-Díaz I, Limeres Freire J, García-Pinilla JM, Gimeno-Blanes JR, Savattis K, García-Pavía P, Ochoa JP. Amor-Salamanca A, et al. Among authors: ochoa jp. Circ Genom Precis Med. 2024 Apr;17(2):e004404. doi: 10.1161/CIRCGEN.123.004404. Epub 2024 Feb 14. Circ Genom Precis Med. 2024. PMID: 38353104 Free PMC article.
Intermediate-effect size p.Arg637Gln in FHOD3 increases risk of HCM and is associated with an aggressive phenotype in homozygous carriers.
Piqueras-Flores J, Villacorta-Argüelles E, Galvin J, Climent-Payá V, Escobar-López LE, Amor-Salamanca A, Garcia-Hernandez S, Esmonde S, Martínez-Del Río J, Soto-Pérez M, Garcia-Pavia P, Ochoa JP. Piqueras-Flores J, et al. Among authors: ochoa jp. J Med Genet. 2024 Apr 19;61(5):423-427. doi: 10.1136/jmg-2023-109413. J Med Genet. 2024. PMID: 38160043
Titin domains with reduced core hydrophobicity cause dilated cardiomyopathy.
Martinez-Martin I, Crousilles A, Ochoa JP, Velazquez-Carreras D, Mortensen SA, Herrero-Galan E, Delgado J, Dominguez F, Garcia-Pavia P, de Sancho D, Wilmanns M, Alegre-Cebollada J. Martinez-Martin I, et al. Among authors: ochoa jp. Cell Rep. 2023 Dec 26;42(12):113490. doi: 10.1016/j.celrep.2023.113490. Epub 2023 Dec 4. Cell Rep. 2023. PMID: 38052212 Free article.
Late gadolinium enhancement distribution patterns in non-ischaemic dilated cardiomyopathy: genotype-phenotype correlation.
de Frutos F, Ochoa JP, Fernández AI, Gallego-Delgado M, Navarro-Peñalver M, Casas G, Basurte MT, Larrañaga-Moreira JM, Mogollón MV, Robles-Mezcua A, García-Granja PE, Climent V, Palomino-Doza J, García-Álvarez A, Brion M, Brugada R, Jiménez-Jáimez J, Bayes-Genis A, Ripoll-Vera T, Peña-Peña ML, Rodríguez-Palomares JF, Gonzalez-Carrillo J, Villacorta E, Espinosa MA, Garcia-Pavia P, Mirelis JG. de Frutos F, et al. Among authors: ochoa jp. Eur Heart J Cardiovasc Imaging. 2023 Dec 21;25(1):75-85. doi: 10.1093/ehjci/jead184. Eur Heart J Cardiovasc Imaging. 2023. PMID: 37562008 Free PMC article.
iPSC-Based Modeling of Variable Clinical Presentation in Hypertrophic Cardiomyopathy.
Escribá R, Larrañaga-Moreira JM, Richaud-Patin Y, Pourchet L, Lazis I, Jiménez-Delgado S, Morillas-García A, Ortiz-Genga M, Ochoa JP, Carreras D, Pérez GJ, de la Pompa JL, Brugada R, Monserrat L, Barriales-Villa R, Raya A. Escribá R, et al. Among authors: ochoa jp. Circ Res. 2023 Jul 7;133(2):108-119. doi: 10.1161/CIRCRESAHA.122.321951. Epub 2023 Jun 15. Circ Res. 2023. PMID: 37317833 Free article.
50 results