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Page 1
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: bermudez jimenez fj. 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.
Extracellular Kir2.1C122Y Mutant Upsets Kir2.1-PIP2 Bonds and Is Arrhythmogenic in Andersen-Tawil Syndrome.
Cruz FM, Macías Á, Moreno-Manuel AI, Gutiérrez LK, Vera-Pedrosa ML, Martínez-Carrascoso I, Sánchez Pérez P, Ruiz Robles JM, Bermúdez-Jiménez FJ, Díaz-Agustín A, Martínez de Benito F, Arias-Santiago S, Braza-Boils A, Martín-Martínez M, Gutierrez-Rodríguez M, Bernal JA, Zorio E, Jiménez-Jaimez J, Jalife J. Cruz FM, et al. Among authors: bermudez jimenez fj. Circ Res. 2024 Apr 12;134(8):e52-e71. doi: 10.1161/CIRCRESAHA.123.323895. Epub 2024 Mar 18. Circ Res. 2024. PMID: 38497220 Free article.
The Kir2.1E299V mutation increases atrial fibrillation vulnerability while protecting the ventricles against arrhythmias in a mouse model of short QT syndrome type 3.
Moreno-Manuel AI, Macías Á, Cruz FM, Gutiérrez LK, Martínez F, González-Guerra A, Martínez Carrascoso I, Bermúdez-Jimenez FJ, Sánchez-Pérez P, Vera-Pedrosa ML, Ruiz-Robles JM, Bernal JA, Jalife J. Moreno-Manuel AI, et al. Among authors: bermudez jimenez fj. Cardiovasc Res. 2024 Apr 30;120(5):490-505. doi: 10.1093/cvr/cvae019. Cardiovasc Res. 2024. PMID: 38261726 Free PMC article.
Emery-Dreifuss muscular dystrophy Type 1 is associated with a high risk of malignant ventricular arrhythmias and end-stage heart failure.
Cannie DE, Syrris P, Protonotarios A, Bakalakos A, Pruny JF, Ditaranto R, Martinez-Veira C, Larrañaga-Moreira JM, Medo K, Bermúdez-Jiménez FJ, Ben Yaou R, Leturcq F, Mezcua AR, Marini-Bettolo C, Cabrera E, Reuter C, Limeres Freire J, Rodríguez-Palomares JF, Mestroni L, Taylor MRG, Parikh VN, Ashley EA, Barriales-Villa R, Jiménez-Jáimez J, Garcia-Pavia P, Charron P, Biagini E, García Pinilla JM, Bourke J, Savvatis K, Wahbi K, Elliott PM. Cannie DE, et al. Among authors: bermudez jimenez fj. Eur Heart J. 2023 Dec 21;44(48):5064-5073. doi: 10.1093/eurheartj/ehad561. Eur Heart J. 2023. PMID: 37639473 Free PMC article.
Extracellular cysteine disulfide bond break at Cys122 disrupts PIP2-dependent Kir2.1 channel function and leads to arrhythmias in Andersen-Tawil Syndrome.
Cruz FM, Macías Á, Moreno-Manuel AI, Gutiérrez LK, Vera-Pedrosa ML, Martínez-Carrascoso I, Pérez PS, Robles JMR, Bermúdez-Jiménez FJ, Díaz-Agustín A, de Benito FM, Santiago SA, Braza-Boils A, Martín-Martínez M, Gutierrez-Rodríguez M, Bernal JA, Zorio E, Jiménez-Jaimez J, Jalife J. Cruz FM, et al. Among authors: bermudez jimenez fj. bioRxiv [Preprint]. 2023 Jun 8:2023.06.07.544151. doi: 10.1101/2023.06.07.544151. bioRxiv. 2023. PMID: 37333254 Free PMC article. Preprint.
Electrocardiographic findings in patients with arrhythmogenic cardiomyopathy and right bundle branch block ventricular tachycardia.
Laredo M, Tovia-Brodie O, Milman A, Michowitz Y, Roudijk RW, Peretto G, Badenco N, Te Riele ASJM, Sala S, Duthoit G, Arbelo E, Ninni S, Gasperetti A, van Tintelen JP, Paglino G, Waintraub X, Andorin A, Peichl P, Bosman LP, Calo L, Giustetto C, Radinovic A, Jorda P, Casado-Arroyo R, Zorio E, Bermúdez-Jiménez FJ, Behr ER, Havranek S, Tfelt-Hansen J, Sacher F, Hermida JS, Nof E, Casella M, Kautzner J, Lacroix D, Brugada J, Duru F, Bella PD, Gandjbakhch E, Hauer R, Belhassen B. Laredo M, et al. Among authors: bermudez jimenez fj. Europace. 2023 Mar 30;25(3):1025-1034. doi: 10.1093/europace/euac267. Europace. 2023. PMID: 36635857 Free PMC article.
Clinical Risk Score to Predict Pathogenic Genotypes in Patients With Dilated Cardiomyopathy.
Escobar-Lopez L, Ochoa JP, Royuela A, Verdonschot JAJ, Dal Ferro M, Espinosa MA, Sabater-Molina M, Gallego-Delgado M, Larrañaga-Moreira JM, Garcia-Pinilla JM, Basurte-Elorz MT, Rodríguez-Palomares JF, Climent V, Bermudez-Jimenez FJ, Mogollón-Jiménez MV, Lopez J, Peña-Peña ML, Garcia-Alvarez A, López-Abel B, Ripoll-Vera T, Palomino-Doza J, Bayes-Genis A, Brugada R, Idiazabal U, Mirelis JG, Dominguez F, Henkens MTHM, Krapels IPC, Brunner HG, Paldino A, Zaffalon D, Mestroni L, Sinagra G, Heymans SRB, Merlo M, Garcia-Pavia P. Escobar-Lopez L, et al. Among authors: bermudez jimenez fj. J Am Coll Cardiol. 2022 Sep 20;80(12):1115-1126. doi: 10.1016/j.jacc.2022.06.040. J Am Coll Cardiol. 2022. PMID: 36109106 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. Among authors: bermudez jimenez fj. 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.
ROD2 domain filamin C missense mutations exhibit a distinctive cardiac phenotype with restrictive/hypertrophic cardiomyopathy and saw-tooth myocardium.
Bermúdez-Jiménez FJ, Carriel V, Santos-Mateo JJ, Fernández A, García-Hernández S, Ramos KA, Piqueras-Flores J, Cabrera-Romero E, Barriales-Villa R, de la Higuera Romero L, Alcalá López JE, Gimeno Blanes JR, Sánchez-Porras D, Campos F, Alaminos M, Oyonarte-Ramírez JM, Álvarez M, Tercedor L, Brodehl A, Jiménez-Jáimez J. Bermúdez-Jiménez FJ, et al. Rev Esp Cardiol (Engl Ed). 2023 May;76(5):301-311. doi: 10.1016/j.rec.2022.08.002. Epub 2022 Aug 8. Rev Esp Cardiol (Engl Ed). 2023. PMID: 35952944 English, Spanish.
Molecular stratification of arrhythmogenic mechanisms in the Andersen Tawil syndrome.
Moreno-Manuel AI, Gutiérrez LK, Vera-Pedrosa ML, Cruz FM, Bermúdez-Jiménez FJ, Martínez-Carrascoso I, Sánchez-Pérez P, Macías Á, Jalife J. Moreno-Manuel AI, et al. Among authors: bermudez jimenez fj. Cardiovasc Res. 2023 May 2;119(4):919-932. doi: 10.1093/cvr/cvac118. Cardiovasc Res. 2023. PMID: 35892314 Free PMC article.
25 results