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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. Eur Heart J. 2023 Dec 21;44(48):5064-5073. doi: 10.1093/eurheartj/ehad561. Eur Heart J. 2023. PMID: 37639473 Free PMC article.
[Intolerance to hydroxychloroquine marketed in Spain (Dolquine) in patients with autoimmune conditions].
Jiménez-Alonso J, Sabio JM, Carrillo-Alascio PL, Jiménez-Jáimez J, Ortego-Centeno N, Jiménez-Jáimez E, Hidalgo-Tenorio C, Guzmán-Ubeda M, Jáimez L, Cáliz R, García-Sánchez A, Gallego M, Caminal L, Callejas-Rubio JL, Cervera R, Font J; Grupo LUPUS Virgen de las Nieves. Jiménez-Alonso J, et al. Rev Clin Esp. 2004 Nov;204(11):588-91. doi: 10.1157/13067369. Rev Clin Esp. 2004. PMID: 15511405 Clinical Trial. Spanish.
Calmodulin 2 Mutation N98S Is Associated with Unexplained Cardiac Arrest in Infants Due to Low Clinical Penetrance Electrical Disorders.
Jiménez-Jáimez J, Palomino Doza J, Ortega Á, Macías-Ruiz R, Perin F, Rodríguez-Vázquez del Rey MM, Ortiz-Genga M, Monserrat L, Barriales-Villa R, Blanca E, Álvarez M, Tercedor L. Jiménez-Jáimez J, et al. PLoS One. 2016 Apr 21;11(4):e0153851. doi: 10.1371/journal.pone.0153851. eCollection 2016. PLoS One. 2016. PMID: 27100291 Free PMC article.
Truncating FLNC Mutations Are Associated With High-Risk Dilated and Arrhythmogenic Cardiomyopathies.
Ortiz-Genga MF, Cuenca S, Dal Ferro M, Zorio E, Salgado-Aranda R, Climent V, Padrón-Barthe L, Duro-Aguado I, Jiménez-Jáimez J, Hidalgo-Olivares VM, García-Campo E, Lanzillo C, Suárez-Mier MP, Yonath H, Marcos-Alonso S, Ochoa JP, Santomé JL, García-Giustiniani D, Rodríguez-Garrido JL, Domínguez F, Merlo M, Palomino J, Peña ML, Trujillo JP, Martín-Vila A, Stolfo D, Molina P, Lara-Pezzi E, Calvo-Iglesias FE, Nof E, Calò L, Barriales-Villa R, Gimeno-Blanes JR, Arad M, García-Pavía P, Monserrat L. Ortiz-Genga MF, et al. J Am Coll Cardiol. 2016 Dec 6;68(22):2440-2451. doi: 10.1016/j.jacc.2016.09.927. J Am Coll Cardiol. 2016. PMID: 27908349 Free article.
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