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444 related items for PubMed ID: 30678776

  • 1. Plakophilin-2 Truncation Variants in Patients Clinically Diagnosed With Catecholaminergic Polymorphic Ventricular Tachycardia and Decedents With Exercise-Associated Autopsy Negative Sudden Unexplained Death in the Young.
    Tester DJ, Ackerman JP, Giudicessi JR, Ackerman NC, Cerrone M, Delmar M, Ackerman MJ.
    JACC Clin Electrophysiol; 2019 Jan; 5(1):120-127. PubMed ID: 30678776
    [Abstract] [Full Text] [Related]

  • 2.
    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Napolitano C, Mazzanti A, Bloise R, Priori SG.
    ; 1993 Jan. PubMed ID: 20301466
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  • 3. Whole-Exome Molecular Autopsy After Exertion-Related Sudden Unexplained Death in the Young.
    Anderson JH, Tester DJ, Will ML, Ackerman MJ.
    Circ Cardiovasc Genet; 2016 Jun; 9(3):259-65. PubMed ID: 27114410
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  • 4. A novel heterozygous mutation in cardiac calsequestrin causes autosomal dominant catecholaminergic polymorphic ventricular tachycardia.
    Gray B, Bagnall RD, Lam L, Ingles J, Turner C, Haan E, Davis A, Yang PC, Clancy CE, Sy RW, Semsarian C.
    Heart Rhythm; 2016 Aug; 13(8):1652-60. PubMed ID: 27157848
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  • 5. 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 02; 106(1):69-74. PubMed ID: 12093772
    [Abstract] [Full Text] [Related]

  • 6. Exercise testing oversights underlie missed and delayed diagnosis of catecholaminergic polymorphic ventricular tachycardia in young sudden cardiac arrest survivors.
    Giudicessi JR, Ackerman MJ.
    Heart Rhythm; 2019 Aug 02; 16(8):1232-1239. PubMed ID: 30763784
    [Abstract] [Full Text] [Related]

  • 7. PKP2 mutations in sudden death from arrhythmogenic right ventricular cardiomyopathy (ARVC) and sudden unexpected death with negative autopsy (SUDNA).
    Zhang M, Tavora F, Oliveira JB, Li L, Franco M, Fowler D, Zhao Z, Burke A.
    Circ J; 2012 Aug 02; 76(1):189-94. PubMed ID: 22019812
    [Abstract] [Full Text] [Related]

  • 8. Novel cases of pediatric sudden cardiac death secondary to TRDN mutations presenting as long QT syndrome at rest and catecholaminergic polymorphic ventricular tachycardia during exercise: The TRDN arrhythmia syndrome.
    Rabbani B, Khorgami M, Dalili M, Zamani N, Mahdieh N, Gollob MH.
    Am J Med Genet A; 2021 Nov 02; 185(11):3433-3445. PubMed ID: 34415104
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  • 13. BASIC AND CLINICAL INSIGHTS IN CATECHOLAMINERGIC (FAMILIAL) POLYMORPHIC VENTRICULAR TACHYCARDIA.
    Márquez MF, Totomoch-Serra A, Rueda A, Avelino-Cruz JE, Gallegos-Cortez A.
    Rev Invest Clin; 2019 Nov 02; 71(4):226-236. PubMed ID: 31448784
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  • 17. 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. PubMed ID: 19926015
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  • 18. Classification and correlation of RYR2 missense variants in individuals with catecholaminergic polymorphic ventricular tachycardia reveals phenotypic relationships.
    Olubando D, Hopton C, Eden J, Caswell R, Lowri Thomas N, Roberts SA, Morris-Rosendahl D, Venetucci L, Newman WG.
    J Hum Genet; 2020 Jun 24; 65(6):531-539. PubMed ID: 32152366
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  • 19. Evaluation of gene validity for CPVT and short QT syndrome in sudden arrhythmic death.
    Walsh R, Adler A, Amin AS, Abiusi E, Care M, Bikker H, Amenta S, Feilotter H, Nannenberg EA, Mazzarotto F, Trevisan V, Garcia J, Hershberger RE, Perez MV, Sturm AC, Ware JS, Zareba W, Novelli V, Wilde AAM, Gollob MH.
    Eur Heart J; 2022 Apr 14; 43(15):1500-1510. PubMed ID: 34557911
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  • 20. Arrhythmogenic right ventricular cardiomyopathy due to a novel plakophilin 2 mutation: wide spectrum of disease in mutation carriers within a family.
    Kannankeril PJ, Bhuiyan ZA, Darbar D, Mannens MM, Wilde AA, Roden DM.
    Heart Rhythm; 2006 Aug 14; 3(8):939-44. PubMed ID: 16876743
    [Abstract] [Full Text] [Related]

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