Bezzina CR - Search Results

1

Functional Consequences of the SCN5A-p.Y1977N Mutation within the PY Ubiquitylation Motif: Discrepancy between HEK293 Cells and Transgenic Mice.

Casini S, Albesa M, Wang Z, Portero V, Ross-Kaschitza D, Rougier JS, Marchal GA, Chung WK, Bezzina CR, Abriel H, Remme CA. Casini S, et al. Among authors: bezzina cr. Int J Mol Sci. 2019 Oct 11;20(20):5033. doi: 10.3390/ijms20205033. Int J Mol Sci. 2019. PMID: 31614475 Free PMC article.

2

Genotype-phenotype relationship in Brugada syndrome: electrocardiographic features differentiate SCN5A-related patients from non-SCN5A-related patients.

Smits JP, Eckardt L, Probst V, Bezzina CR, Schott JJ, Remme CA, Haverkamp W, Breithardt G, Escande D, Schulze-Bahr E, LeMarec H, Wilde AA. Smits JP, et al. Among authors: bezzina cr. J Am Coll Cardiol. 2002 Jul 17;40(2):350-6. doi: 10.1016/s0735-1097(02)01962-9. J Am Coll Cardiol. 2002. PMID: 12106943 Free article.

3

A mutation in the human cardiac sodium channel (E161K) contributes to sick sinus syndrome, conduction disease and Brugada syndrome in two families.

Smits JP, Koopmann TT, Wilders R, Veldkamp MW, Opthof T, Bhuiyan ZA, Mannens MM, Balser JR, Tan HL, Bezzina CR, Wilde AA. Smits JP, et al. Among authors: bezzina cr. J Mol Cell Cardiol. 2005 Jun;38(6):969-81. doi: 10.1016/j.yjmcc.2005.02.024. Epub 2005 Apr 1. J Mol Cell Cardiol. 2005. PMID: 15910881

4

Substitution of a conserved alanine in the domain IIIS4-S5 linker of the cardiac sodium channel causes long QT syndrome.

Smits JP, Veldkamp MW, Bezzina CR, Bhuiyan ZA, Wedekind H, Schulze-Bahr E, Wilde AA. Smits JP, et al. Among authors: bezzina cr. Cardiovasc Res. 2005 Aug 15;67(3):459-66. doi: 10.1016/j.cardiores.2005.01.017. Cardiovasc Res. 2005. PMID: 16039271

5

Right ventricular fibrosis and conduction delay in a patient with clinical signs of Brugada syndrome: a combined electrophysiological, genetic, histopathologic, and computational study.

Coronel R, Casini S, Koopmann TT, Wilms-Schopman FJ, Verkerk AO, de Groot JR, Bhuiyan Z, Bezzina CR, Veldkamp MW, Linnenbank AC, van der Wal AC, Tan HL, Brugada P, Wilde AA, de Bakker JM. Coronel R, et al. Among authors: bezzina cr. Circulation. 2005 Nov 1;112(18):2769-77. doi: 10.1161/CIRCULATIONAHA.105.532614. Circulation. 2005. PMID: 16267250

6

Overlap syndrome of cardiac sodium channel disease in mice carrying the equivalent mutation of human SCN5A-1795insD.

Remme CA, Verkerk AO, Nuyens D, van Ginneken AC, van Brunschot S, Belterman CN, Wilders R, van Roon MA, Tan HL, Wilde AA, Carmeliet P, de Bakker JM, Veldkamp MW, Bezzina CR. Remme CA, et al. Among authors: bezzina cr. Circulation. 2006 Dec 12;114(24):2584-94. doi: 10.1161/CIRCULATIONAHA.106.653949. Epub 2006 Dec 4. Circulation. 2006. PMID: 17145985

7

Genetic modulation of cardiac repolarization reserve.

Remme CA, Bezzina CR. Remme CA, et al. Among authors: bezzina cr. Heart Rhythm. 2007 May;4(5):608-10. doi: 10.1016/j.hrthm.2007.02.025. Epub 2007 Mar 3. Heart Rhythm. 2007. PMID: 17467629 No abstract available.

8

Exclusion of multiple candidate genes and large genomic rearrangements in SCN5A in a Dutch Brugada syndrome cohort.

Koopmann TT, Beekman L, Alders M, Meregalli PG, Mannens MM, Moorman AF, Wilde AA, Bezzina CR. Koopmann TT, et al. Among authors: bezzina cr. Heart Rhythm. 2007 Jun;4(6):752-5. doi: 10.1016/j.hrthm.2007.02.021. Epub 2007 Mar 2. Heart Rhythm. 2007. PMID: 17556197

9

Characterization of a novel SCN5A mutation associated with Brugada syndrome reveals involvement of DIIIS4-S5 linker in slow inactivation.

Casini S, Tan HL, Bhuiyan ZA, Bezzina CR, Barnett P, Cerbai E, Mugelli A, Wilde AA, Veldkamp MW. Casini S, et al. Among authors: bezzina cr. Cardiovasc Res. 2007 Dec 1;76(3):418-29. doi: 10.1016/j.cardiores.2007.08.005. Epub 2007 Aug 22. Cardiovasc Res. 2007. PMID: 17854786

10

Cardiac sodium channel overlap syndromes: different faces of SCN5A mutations.

Remme CA, Wilde AA, Bezzina CR. Remme CA, et al. Among authors: bezzina cr. Trends Cardiovasc Med. 2008 Apr;18(3):78-87. doi: 10.1016/j.tcm.2008.01.002. Trends Cardiovasc Med. 2008. PMID: 18436145 Review.

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