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Journal Abstract Search

333 related items for PubMed ID: 32005173

  • 1. DSP p.(Thr2104Glnfs*12) variant presents variably with early onset severe arrhythmias and left ventricular cardiomyopathy.
    Heliö K, Kangas-Kontio T, Weckström S, Vanninen SUM, Aalto-Setälä K, Alastalo TP, Myllykangas S, Heliö TM, Koskenvuo JW.
    BMC Med Genet; 2020 Jan 31; 21(1):19. PubMed ID: 32005173
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  • 3. Desmoplakin truncations and arrhythmogenic left ventricular cardiomyopathy: characterizing a phenotype.
    López-Ayala JM, Gómez-Milanés I, Sánchez Muñoz JJ, Ruiz-Espejo F, Ortíz M, González-Carrillo J, López-Cuenca D, Oliva-Sandoval MJ, Monserrat L, Valdés M, Gimeno JR.
    Europace; 2014 Dec 31; 16(12):1838-46. PubMed ID: 24938629
    [Abstract] [Full Text] [Related]

  • 4. Clinical and functional characterization of a novel mutation in lamin a/c gene in a multigenerational family with arrhythmogenic cardiac laminopathy.
    Forleo C, Carmosino M, Resta N, Rampazzo A, Valecce R, Sorrentino S, Iacoviello M, Pisani F, Procino G, Gerbino A, Scardapane A, Simone C, Calore M, Torretta S, Svelto M, Favale S.
    PLoS One; 2015 Dec 31; 10(4):e0121723. PubMed ID: 25837155
    [Abstract] [Full Text] [Related]

  • 5. Familial Recurrent Myocarditis Triggered by Exercise in Patients With a Truncating Variant of the Desmoplakin Gene.
    Poller W, Haas J, Klingel K, Kühnisch J, Gast M, Kaya Z, Escher F, Kayvanpour E, Degener F, Opgen-Rhein B, Berger F, Mochmann HC, Skurk C, Heidecker B, Schultheiss HP, Monserrat L, Meder B, Landmesser U, Klaassen S.
    J Am Heart Assoc; 2020 May 18; 9(10):e015289. PubMed ID: 32410525
    [Abstract] [Full Text] [Related]

  • 6. Autosomal-dominant biventricular arrhythmogenic cardiomyopathy in a large family with a novel in-frame DSP nonsense mutation.
    Singh SM, Casey SA, Berg AA, Abdelhadi RH, Katsiyiannis WT, Bennett MK, Mackey-Bojack S, Duncanson ER, Sengupta JD.
    Am J Med Genet A; 2018 Jul 18; 176(7):1622-1626. PubMed ID: 30160835
    [Abstract] [Full Text] [Related]

  • 7. Desmoplakin missense and non-missense mutations in arrhythmogenic right ventricular cardiomyopathy: Genotype-phenotype correlation.
    Castelletti S, Vischer AS, Syrris P, Crotti L, Spazzolini C, Ghidoni A, Parati G, Jenkins S, Kotta MC, McKenna WJ, Schwartz PJ, Pantazis A.
    Int J Cardiol; 2017 Dec 15; 249():268-273. PubMed ID: 28527814
    [Abstract] [Full Text] [Related]

  • 8. Left-dominant arrhythmogenic cardiomyopathy due to desmoplakin mutation: a case report.
    Lemus Barrios GA, Lopez-Lopez JP, Barbosa-Balaguera S, Correa AM.
    ESC Heart Fail; 2023 Oct 15; 10(5):3190-3194. PubMed ID: 37632291
    [Abstract] [Full Text] [Related]

  • 9. Dilated cardiomyopathy and arrhythmogenic left ventricular cardiomyopathy: a comprehensive genotype-imaging phenotype study.
    Augusto JB, Eiros R, Nakou E, Moura-Ferreira S, Treibel TA, Captur G, Akhtar MM, Protonotarios A, Gossios TD, Savvatis K, Syrris P, Mohiddin S, Moon JC, Elliott PM, Lopes LR.
    Eur Heart J Cardiovasc Imaging; 2020 Mar 01; 21(3):326-336. PubMed ID: 31317183
    [Abstract] [Full Text] [Related]

  • 10. A 45-year-old man with sudden cardiac death, cutaneous abnormalities and a rare desmoplakin mutation: a case report and literature review.
    Santos-Ferreira C, Baptista R, Teixeira T, Gonçalves L.
    BMC Cardiovasc Disord; 2022 Feb 12; 22(1):41. PubMed ID: 35151254
    [Abstract] [Full Text] [Related]

  • 11. Arrhythmogenic Right Ventricular Cardiomyopathy: A Review of Living and Deceased Probands.
    Blusztein DI, Zentner D, Thompson T, Jayadeva P, Liang D, Wang R, Winship I, James PA, Trainer AH, Kalman JM, Vohra J.
    Heart Lung Circ; 2019 Jul 12; 28(7):1034-1041. PubMed ID: 30126789
    [Abstract] [Full Text] [Related]

  • 12. Arrhythmogenic Right Ventricular Cardiomyopathy Presenting as Clinical Myocarditis in Women.
    Scheel PJ, Murray B, Tichnell C, James CA, Tandri H, Calkins H, Chelko SP, Gilotra NA.
    Am J Cardiol; 2021 Apr 15; 145():128-134. PubMed ID: 33460606
    [Abstract] [Full Text] [Related]

  • 13. Missense variants in the spectrin repeat domain of DSP are associated with arrhythmogenic cardiomyopathy: A family report and systematic review.
    Grondin S, Wazirian AC, Jorda P, Terrone DG, Gagnon J, Robb L, Amyot J, Rivard L, Pagé S, Talajic M, Cadrin-Tourigny J, Tadros R.
    Am J Med Genet A; 2020 Oct 15; 182(10):2359-2368. PubMed ID: 32808748
    [Abstract] [Full Text] [Related]

  • 14. Arrhythmogenic Right Ventricular Cardiomyopathy: Characterization of Left Ventricular Phenotype and Differential Diagnosis With Dilated Cardiomyopathy.
    Cipriani A, Bauce B, De Lazzari M, Rigato I, Bariani R, Meneghin S, Pilichou K, Motta R, Aliberti C, Thiene G, McKenna WJ, Zorzi A, Iliceto S, Basso C, Perazzolo Marra M, Corrado D.
    J Am Heart Assoc; 2020 Mar 03; 9(5):e014628. PubMed ID: 32114891
    [Abstract] [Full Text] [Related]

  • 15. Familial screening in case of acute myocarditis reveals inherited arrhythmogenic left ventricular cardiomyopathies.
    Piriou N, Marteau L, Kyndt F, Serfaty JM, Toquet C, Le Gloan L, Warin-Fresse K, Guijarro D, Le Tourneau T, Conan E, Thollet A, Probst V, Trochu JN.
    ESC Heart Fail; 2020 Aug 03; 7(4):1520-1533. PubMed ID: 32356610
    [Abstract] [Full Text] [Related]

  • 16. A combinatorial oligogenic basis for the phenotypic plasticity between late-onset dilated and arrhythmogenic cardiomyopathy in a single family.
    Pourebrahim K, Marian JG, Tan Y, Chang JT, Marian AJ.
    J Cardiovasc Aging; 2021 Aug 03; 1():. PubMed ID: 34790974
    [Abstract] [Full Text] [Related]

  • 17. DSP c.6310delA p.(Thr2104Glnfs*12) associates with arrhythmogenic cardiomyopathy, increased trabeculation, curly hair, and palmoplantar keratoderma.
    Heliö K, Brandt E, Vaara S, Weckström S, Harjama L, Kandolin R, Järviö J, Hannula-Jouppi K, Heliö T, Holmström M, Koskenvuo JW.
    Front Cardiovasc Med; 2023 Aug 03; 10():1130903. PubMed ID: 37008330
    [Abstract] [Full Text] [Related]

  • 18. Clinical profile and long-term follow-up of a cohort of patients with desmoplakin cardiomyopathy.
    Bariani R, Cason M, Rigato I, Cipriani A, Celeghin R, De Gaspari M, Bueno Marinas M, Mattesi G, Pergola V, Rizzo S, Zorzi A, Giorgi B, Rampazzo A, Thiene G, Iliceto S, Perazzolo Marra M, Corrado D, Basso C, Pilichou K, Bauce B.
    Heart Rhythm; 2022 Aug 03; 19(8):1315-1324. PubMed ID: 35470109
    [Abstract] [Full Text] [Related]

  • 19. Next-generation sequencing identified novel Desmoplakin frame-shift variant in patients with Arrhythmogenic cardiomyopathy.
    Lin X, Ma Y, Cai Z, Wang Q, Wang L, Huo Z, Hu D, Wang J, Xiang M.
    BMC Cardiovasc Disord; 2020 Feb 11; 20(1):74. PubMed ID: 32046637
    [Abstract] [Full Text] [Related]

  • 20. Novel mutation in desmoplakin causes arrhythmogenic left ventricular cardiomyopathy.
    Norman M, Simpson M, Mogensen J, Shaw A, Hughes S, Syrris P, Sen-Chowdhry S, Rowland E, Crosby A, McKenna WJ.
    Circulation; 2005 Aug 02; 112(5):636-42. PubMed ID: 16061754
    [Abstract] [Full Text] [Related]

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