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Results: 1 to 20 of 141

1.

Mutations in calmodulin cause ventricular tachycardia and sudden cardiac death.

Nyegaard M, Overgaard MT, Søndergaard MT, Vranas M, Behr ER, Hildebrandt LL, Lund J, Hedley PL, Camm AJ, Wettrell G, Fosdal I, Christiansen M, Børglum AD.

Am J Hum Genet. 2012 Oct 5;91(4):703-12. doi: 10.1016/j.ajhg.2012.08.015.

PMID:
23040497
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

Clinical and molecular characterization of patients with catecholaminergic polymorphic ventricular tachycardia.

Priori SG, Napolitano C, Memmi M, Colombi B, Drago F, Gasparini M, DeSimone L, Coltorti F, Bloise R, Keegan R, Cruz Filho FE, Vignati G, Benatar A, DeLogu A.

Circulation. 2002 Jul 2;106(1):69-74.

PMID:
12093772
[PubMed - indexed for MEDLINE]
Free Article
3.

Search for cardiac calcium cycling gene mutations in familial ventricular arrhythmias resembling catecholaminergic polymorphic ventricular tachycardia.

Marjamaa A, Laitinen-Forsblom P, Lahtinen AM, Viitasalo M, Toivonen L, Kontula K, Swan H.

BMC Med Genet. 2009 Feb 12;10:12. doi: 10.1186/1471-2350-10-12.

PMID:
19216760
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

The RYR2-encoded ryanodine receptor/calcium release channel in patients diagnosed previously with either catecholaminergic polymorphic ventricular tachycardia or genotype negative, exercise-induced long QT syndrome: a comprehensive open reading frame mutational analysis.

Medeiros-Domingo A, Bhuiyan ZA, Tester DJ, Hofman N, Bikker H, van Tintelen JP, Mannens MM, Wilde AA, Ackerman MJ.

J Am Coll Cardiol. 2009 Nov 24;54(22):2065-74. doi: 10.1016/j.jacc.2009.08.022.

PMID:
19926015
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

Arrhythmia characterization and long-term outcomes in catecholaminergic polymorphic ventricular tachycardia.

Sy RW, Gollob MH, Klein GJ, Yee R, Skanes AC, Gula LJ, Leong-Sit P, Gow RM, Green MS, Birnie DH, Krahn AD.

Heart Rhythm. 2011 Jun;8(6):864-71. doi: 10.1016/j.hrthm.2011.01.048. Epub 2011 Feb 9.

PMID:
21315846
[PubMed - indexed for MEDLINE]
6.

Characterization of a novel mutation in the cardiac ryanodine receptor that results in catecholaminergic polymorphic ventricular tachycardia.

Jiang D, Jones PP, Davis DR, Gow R, Green MS, Birnie DH, Chen SR, Gollob MH.

Channels (Austin). 2010 Jul-Aug;4(4):302-10. Epub 2010 Jul 14.

PMID:
20676041
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

Catecholaminergic Polymorphic Ventricular Tachycardia.

Napolitano C, Priori SG, Bloise R.

In: Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2014.
2004 Oct 14 [updated 2014 Mar 06].

PMID:
20301466
[PubMed]
Books & Documents
8.

Genes, exercise and sudden death: molecular basis of familial catecholaminergic polymorphic ventricular tachycardia.

Laitinen PJ, Swan H, Piippo K, Viitasalo M, Toivonen L, Kontula K.

Ann Med. 2004;36 Suppl 1:81-6. Review.

PMID:
15176428
[PubMed - indexed for MEDLINE]
9.

Mechanism underlying catecholaminergic polymorphic ventricular tachycardia and approaches to therapy.

Watanabe H, Knollmann BC.

J Electrocardiol. 2011 Nov-Dec;44(6):650-5. doi: 10.1016/j.jelectrocard.2011.07.025. Epub 2011 Aug 27.

PMID:
21872879
[PubMed - indexed for MEDLINE]
10.

Catecholaminergic polymorphic ventricular tachycardia: RYR2 mutations, bradycardia, and follow up of the patients.

Postma AV, Denjoy I, Kamblock J, Alders M, Lupoglazoff JM, Vaksmann G, Dubosq-Bidot L, Sebillon P, Mannens MM, Guicheney P, Wilde AA.

J Med Genet. 2005 Nov;42(11):863-70.

PMID:
16272262
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

Targeted mutational analysis of the RyR2-encoded cardiac ryanodine receptor in sudden unexplained death: a molecular autopsy of 49 medical examiner/coroner's cases.

Tester DJ, Spoon DB, Valdivia HH, Makielski JC, Ackerman MJ.

Mayo Clin Proc. 2004 Nov;79(11):1380-4.

PMID:
15544015
[PubMed - indexed for MEDLINE]
12.

Postpacing abnormal repolarization in catecholaminergic polymorphic ventricular tachycardia associated with a mutation in the cardiac ryanodine receptor gene.

Nof E, Belhassen B, Arad M, Bhuiyan ZA, Antzelevitch C, Rosso R, Fogelman R, Luria D, El-Ani D, Mannens MM, Viskin S, Eldar M, Wilde AA, Glikson M.

Heart Rhythm. 2011 Oct;8(10):1546-52. doi: 10.1016/j.hrthm.2011.05.016. Epub 2011 May 26.

PMID:
21699856
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

Familial evaluation in catecholaminergic polymorphic ventricular tachycardia: disease penetrance and expression in cardiac ryanodine receptor mutation-carrying relatives.

van der Werf C, Nederend I, Hofman N, van Geloven N, Ebink C, Frohn-Mulder IM, Alings AM, Bosker HA, Bracke FA, van den Heuvel F, Waalewijn RA, Bikker H, van Tintelen JP, Bhuiyan ZA, van den Berg MP, Wilde AA.

Circ Arrhythm Electrophysiol. 2012 Aug 1;5(4):748-56. doi: 10.1161/CIRCEP.112.970517. Epub 2012 Jul 10.

PMID:
22787013
[PubMed - indexed for MEDLINE]
Free Article
14.

Catecholaminergic polymorphic ventricular tachycardia: recent mechanistic insights.

Kontula K, Laitinen PJ, Lehtonen A, Toivonen L, Viitasalo M, Swan H.

Cardiovasc Res. 2005 Aug 15;67(3):379-87. Review.

PMID:
15913575
[PubMed - indexed for MEDLINE]
Free Article
15.

Spectrum and prevalence of cardiac ryanodine receptor (RyR2) mutations in a cohort of unrelated patients referred explicitly for long QT syndrome genetic testing.

Tester DJ, Kopplin LJ, Will ML, Ackerman MJ.

Heart Rhythm. 2005 Oct;2(10):1099-105.

PMID:
16188589
[PubMed - indexed for MEDLINE]
16.

Sudden death in familial polymorphic ventricular tachycardia associated with calcium release channel (ryanodine receptor) leak.

Lehnart SE, Wehrens XH, Laitinen PJ, Reiken SR, Deng SX, Cheng Z, Landry DW, Kontula K, Swan H, Marks AR.

Circulation. 2004 Jun 29;109(25):3208-14. Epub 2004 Jun 14.

PMID:
15197150
[PubMed - indexed for MEDLINE]
Free Article
17.

Identification of novel missense mutations of cardiac ryanodine receptor gene in exercise-induced sudden death at autopsy.

Creighton W, Virmani R, Kutys R, Burke A.

J Mol Diagn. 2006 Feb;8(1):62-7.

PMID:
16436635
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

Catecholaminergic polymorphic ventricular tachycardia in a child: a case report.

Garabedian L, Verryckt A, Panzer J, De Wolf D.

Acta Paediatr. 2008 Jan;97(1):127-9. Epub 2007 Dec 3.

PMID:
18052993
[PubMed - indexed for MEDLINE]
19.

Leaky Ca2+ release channel/ryanodine receptor 2 causes seizures and sudden cardiac death in mice.

Lehnart SE, Mongillo M, Bellinger A, Lindegger N, Chen BX, Hsueh W, Reiken S, Wronska A, Drew LJ, Ward CW, Lederer WJ, Kass RS, Morley G, Marks AR.

J Clin Invest. 2008 Jun;118(6):2230-45. doi: 10.1172/JCI35346.

PMID:
18483626
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

Absence of triadin, a protein of the calcium release complex, is responsible for cardiac arrhythmia with sudden death in human.

Roux-Buisson N, Cacheux M, Fourest-Lieuvin A, Fauconnier J, Brocard J, Denjoy I, Durand P, Guicheney P, Kyndt F, Leenhardt A, Le Marec H, Lucet V, Mabo P, Probst V, Monnier N, Ray PF, Santoni E, Trémeaux P, Lacampagne A, Fauré J, Lunardi J, Marty I.

Hum Mol Genet. 2012 Jun 15;21(12):2759-67. doi: 10.1093/hmg/dds104. Epub 2012 Mar 14.

PMID:
22422768
[PubMed - indexed for MEDLINE]
Free PMC Article

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