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849 results

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Page 1
An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing.
Kapplinger JD, Tester DJ, Alders M, Benito B, Berthet M, Brugada J, Brugada P, Fressart V, Guerchicoff A, Harris-Kerr C, Kamakura S, Kyndt F, Koopmann TT, Miyamoto Y, Pfeiffer R, Pollevick GD, Probst V, Zumhagen S, Vatta M, Towbin JA, Shimizu W, Schulze-Bahr E, Antzelevitch C, Salisbury BA, Guicheney P, Wilde AA, Brugada R, Schott JJ, Ackerman MJ. Kapplinger JD, et al. Among authors: ackerman mj. Heart Rhythm. 2010 Jan;7(1):33-46. doi: 10.1016/j.hrthm.2009.09.069. Epub 2009 Oct 8. Heart Rhythm. 2010. PMID: 20129283 Free PMC article.
A novel rare variant in SCN1Bb linked to Brugada syndrome and SIDS by combined modulation of Na(v)1.5 and K(v)4.3 channel currents.
Hu D, Barajas-Martínez H, Medeiros-Domingo A, Crotti L, Veltmann C, Schimpf R, Urrutia J, Alday A, Casis O, Pfeiffer R, Burashnikov E, Caceres G, Tester DJ, Wolpert C, Borggrefe M, Schwartz P, Ackerman MJ, Antzelevitch C. Hu D, et al. Among authors: ackerman mj. Heart Rhythm. 2012 May;9(5):760-9. doi: 10.1016/j.hrthm.2011.12.006. Epub 2011 Dec 7. Heart Rhythm. 2012. PMID: 22155597 Free PMC article.
A CACNA1C variant associated with reduced voltage-dependent inactivation, increased CaV1.2 channel window current, and arrhythmogenesis.
Hennessey JA, Boczek NJ, Jiang YH, Miller JD, Patrick W, Pfeiffer R, Sutphin BS, Tester DJ, Barajas-Martinez H, Ackerman MJ, Antzelevitch C, Kanter R, Pitt GS. Hennessey JA, et al. Among authors: ackerman mj. PLoS One. 2014 Sep 3;9(9):e106982. doi: 10.1371/journal.pone.0106982. eCollection 2014. PLoS One. 2014. PMID: 25184293 Free PMC article.
Novel Timothy syndrome mutation leading to increase in CACNA1C window current.
Boczek NJ, Miller EM, Ye D, Nesterenko VV, Tester DJ, Antzelevitch C, Czosek RJ, Ackerman MJ, Ware SM. Boczek NJ, et al. Among authors: ackerman mj. Heart Rhythm. 2015 Jan;12(1):211-9. doi: 10.1016/j.hrthm.2014.09.051. Epub 2014 Sep 28. Heart Rhythm. 2015. PMID: 25260352 Free PMC article.
J-Wave syndromes expert consensus conference report: Emerging concepts and gaps in knowledge.
Antzelevitch C, Yan GX, Ackerman MJ, Borggrefe M, Corrado D, Guo J, Gussak I, Hasdemir C, Horie M, Huikuri H, Ma C, Morita H, Nam GB, Sacher F, Shimizu W, Viskin S, Wilde AA. Antzelevitch C, et al. Among authors: ackerman mj. Heart Rhythm. 2016 Oct;13(10):e295-324. doi: 10.1016/j.hrthm.2016.05.024. Epub 2016 Jul 13. Heart Rhythm. 2016. PMID: 27423412 Free PMC article. Review. No abstract available.
J-Wave syndromes expert consensus conference report: Emerging concepts and gaps in knowledge.
Antzelevitch C, Yan GX, Ackerman MJ, Borggrefe M, Corrado D, Guo J, Gussak I, Hasdemir C, Horie M, Huikuri H, Ma C, Morita H, Nam GB, Sacher F, Shimizu W, Viskin S, Wilde AA. Antzelevitch C, et al. Among authors: ackerman mj. J Arrhythm. 2016 Oct;32(5):315-339. doi: 10.1016/j.joa.2016.07.002. Epub 2016 Aug 21. J Arrhythm. 2016. PMID: 27761155 Free PMC article. No abstract available.
849 results