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Missense mutations in plakophilin-2 cause sodium current deficit and associate with a Brugada syndrome phenotype.
Cerrone M, Lin X, Zhang M, Agullo-Pascual E, Pfenniger A, Chkourko Gusky H, Novelli V, Kim C, Tirasawadichai T, Judge DP, Rothenberg E, Chen HS, Napolitano C, Priori SG, Delmar M. Cerrone M, et al. Circulation. 2014 Mar 11;129(10):1092-103. doi: 10.1161/CIRCULATIONAHA.113.003077. Epub 2013 Dec 18. Circulation. 2014. PMID: 24352520 Free PMC article.
Multilevel analyses of SCN5A mutations in arrhythmogenic right ventricular dysplasia/cardiomyopathy suggest non-canonical mechanisms for disease pathogenesis.
Te Riele AS, Agullo-Pascual E, James CA, Leo-Macias A, Cerrone M, Zhang M, Lin X, Lin B, Sobreira NL, Amat-Alarcon N, Marsman RF, Murray B, Tichnell C, van der Heijden JF, Dooijes D, van Veen TA, Tandri H, Fowler SJ, Hauer RN, Tomaselli G, van den Berg MP, Taylor MR, Brun F, Sinagra G, Wilde AA, Mestroni L, Bezzina CR, Calkins H, Peter van Tintelen J, Bu L, Delmar M, Judge DP. Te Riele AS, et al. Among authors: cerrone m. Cardiovasc Res. 2017 Jan;113(1):102-111. doi: 10.1093/cvr/cvw234. Cardiovasc Res. 2017. PMID: 28069705 Free PMC article.
153 results