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Mutations in TRIM63 cause an autosomal-recessive form of hypertrophic cardiomyopathy.
Salazar-Mendiguchía J, Ochoa JP, Palomino-Doza J, Domínguez F, Díez-López C, Akhtar M, Ramiro-León S, Clemente MM, Pérez-Cejas A, Robledo M, Gómez-Díaz I, Peña-Peña ML, Climent V, Salmerón-Martínez F, Hernández C, García-Granja PE, Mogollón MV, Cárdenas-Reyes I, Cicerchia M, García-Giustiniani D, Lamounier A Jr, Gil-Fournier B, Díaz-Flores F, Salguero R, Santomé L, Syrris P, Olivé M, García-Pavía P, Ortiz-Genga M, Elliott PM, Monserrat L; GENESCOPIC Research Group. Salazar-Mendiguchía J, et al. Heart. 2020 Sep;106(17):1342-1348. doi: 10.1136/heartjnl-2020-316913. Epub 2020 May 25. Heart. 2020. PMID: 32451364 Free PMC article.
Clinical Findings and Prognosis of Danon Disease. An Analysis of the Spanish Multicenter Danon Registry.
López-Sainz Á, Salazar-Mendiguchía J, García-Álvarez A, Campuzano Larrea O, López-Garrido MÁ, García-Guereta L, Fuentes Cañamero ME, Climent Payá V, Peña-Peña ML, Zorio-Grima E, Jordá-Burgos P, Díez-López C, Brugada R, García-Pinilla JM, García-Pavía P. López-Sainz Á, et al. Rev Esp Cardiol (Engl Ed). 2019 Jun;72(6):479-486. doi: 10.1016/j.rec.2018.04.035. Epub 2018 Aug 11. Rev Esp Cardiol (Engl Ed). 2019. PMID: 30108015 English, Spanish.
Risk predictors in a Spanish cohort with cardiac laminopathies. The REDLAMINA registry.
Barriales-Villa R, Ochoa JP, Larrañaga-Moreira JM, Salazar-Mendiguchía J, Díez-López C, Restrepo-Córdoba MA, Álvarez-Rubio J, Robles-Mezcua A, Olmo-Conesa MC, Nicolás-Rocamora E, Sanz J, Villacorta E, Gallego-Delgado M, Yotti R, Espinosa MÁ, Manovel A, Rincón-Díaz LM, Jiménez-Jaimez J, Bermúdez-Jiménez FJ, Basurte-Elorz MT, Climent-Payá V, García-Álvarez MI, Rodríguez-Palomares JF, Limeres-Freire J, Pérez-Guerrero A, Cantero-Pérez EM, Peña-Peña ML, Palomino-Doza J, Crespo-Leiro MG, García-Pinilla JM, Zorio E, Ripoll-Vera T, García-Pavía P, Ortiz-Genga M, Monserrat L. Barriales-Villa R, et al. Rev Esp Cardiol (Engl Ed). 2021 Mar;74(3):216-224. doi: 10.1016/j.rec.2020.03.026. Epub 2020 Jun 29. Rev Esp Cardiol (Engl Ed). 2021. PMID: 32616434 English, Spanish.
Screening of Fabry Disease in Patients with Chest Pain Without Obstructive Coronary Artery Disease.
Hernández-Hernández A, Diez-López C, Azevedo O, Palomino-Doza J, Alfonso F, Fuentes-Cañamero ME, Mogollón Jiménez MV, Casanova Rodríguez C, Ruz A, Tirón C, Climent V, Garcia-Pavia P. Hernández-Hernández A, et al. J Cardiovasc Transl Res. 2021 Oct;14(5):948-950. doi: 10.1007/s12265-020-10097-2. Epub 2021 Jan 20. J Cardiovasc Transl Res. 2021. PMID: 33474682
Cardiac Transplantation in Danon Disease.
Hong KN, Battikha C, John S, Lin A, Bui QM, Brambatti M, Storm G, Boynton K, Medina-Hernandez D, Garcia-Alvarez A, Castel MA, Garcia-Guereta L, Diez Lopez C, Perez-Gomez L, Miani D, Symanski JD, Taylor MR, Garcia-Pavia P, Adler ED. Hong KN, et al. J Card Fail. 2022 Apr;28(4):664-669. doi: 10.1016/j.cardfail.2021.11.007. Epub 2021 Nov 11. J Card Fail. 2022. PMID: 34775111
Clinical Determinants and Prognosis of Left Ventricular Reverse Remodelling in Non-Ischemic Dilated Cardiomyopathy.
Díez-López C, Salazar-Mendiguchía J, García-Romero E, Fuentes L, Lupón J, Bayés-Genis A, Manito N, de Antonio M, Moliner P, Zamora E, Catalá-Ruiz P, Caínzos-Achirica M, Comín-Colet J, González-Costello J. Díez-López C, et al. J Cardiovasc Dev Dis. 2022 Jan 11;9(1):20. doi: 10.3390/jcdd9010020. J Cardiovasc Dev Dis. 2022. PMID: 35050230 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.
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