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Estimating the Posttest Probability of Long QT Syndrome Diagnosis for Rare KCNH2 Variants.
Kozek K, Wada Y, Sala L, Denjoy I, Egly C, O'Neill MJ, Aiba T, Shimizu W, Makita N, Ishikawa T, Crotti L, Spazzolini C, Kotta MC, Dagradi F, Castelletti S, Pedrazzini M, Gnecchi M, Leenhardt A, Salem JE, Ohno S, Zuo Y, Glazer AM, Mosley JD, Roden DM, Knollmann BC, Blume JD, Extramiana F, Schwartz PJ, Horie M, Kroncke BM. Kozek K, et al. Among authors: sala l. Circ Genom Precis Med. 2021 Aug;14(4):e003289. doi: 10.1161/CIRCGEN.120.003289. Epub 2021 Jul 26. Circ Genom Precis Med. 2021. PMID: 34309407 Free PMC article.
Elucidating arrhythmogenic mechanisms of long-QT syndrome CALM1-F142L mutation in patient-specific induced pluripotent stem cell-derived cardiomyocytes.
Rocchetti M, Sala L, Dreizehnter L, Crotti L, Sinnecker D, Mura M, Pane LS, Altomare C, Torre E, Mostacciuolo G, Severi S, Porta A, De Ferrari GM, George AL Jr, Schwartz PJ, Gnecchi M, Moretti A, Zaza A. Rocchetti M, et al. Among authors: sala l. Cardiovasc Res. 2017 Apr 1;113(5):531-541. doi: 10.1093/cvr/cvx006. Cardiovasc Res. 2017. PMID: 28158429
MTMR4 SNVs modulate ion channel degradation and clinical severity in congenital long QT syndrome: insights in the mechanism of action of protective modifier genes.
Lee YK, Sala L, Mura M, Rocchetti M, Pedrazzini M, Ran X, Mak TSH, Crotti L, Sham PC, Torre E, Zaza A, Schwartz PJ, Tse HF, Gnecchi M. Lee YK, et al. Among authors: sala l. Cardiovasc Res. 2021 Feb 22;117(3):767-779. doi: 10.1093/cvr/cvaa019. Cardiovasc Res. 2021. PMID: 32173736 Free PMC article.
Isogenic Sets of hiPSC-CMs Harboring Distinct KCNH2 Mutations Differ Functionally and in Susceptibility to Drug-Induced Arrhythmias.
Brandão KO, van den Brink L, Miller DC, Grandela C, van Meer BJ, Mol MPH, de Korte T, Tertoolen LGJ, Mummery CL, Sala L, Verkerk AO, Davis RP. Brandão KO, et al. Among authors: sala l. Stem Cell Reports. 2020 Nov 10;15(5):1127-1139. doi: 10.1016/j.stemcr.2020.10.005. Stem Cell Reports. 2020. PMID: 33176122 Free PMC article.
490 results