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Items: 1 to 20 of 73

1.
Genetic bases of arrhythmogenic right ventricular Cardiomyopathy
ALESSANDRA RAMPAZZO
Heart Int. 2006; 2(1): 17. Published online 2006 May 28. doi: 10.4081/hi.2006.17
PMCID:
PMC3184660
AbstractArticlePDF–127K
2.
TMEM43 Mutation p.S358L Alters Intercalated Disc Protein Expression and Reduces Conduction Velocity in Arrhythmogenic Right Ventricular Cardiomyopathy
Vinayakumar Siragam, Xuezhi Cui, Stephane Masse, Cameron Ackerley, Shabana Aafaqi, Linn Strandberg, Michael Tropak, Michael D. Fridman, Kumaraswamy Nanthakumar, Jun Liu, Yu Sun, Bin Su, Caroline Wang, Xiaoru Liu, Yuqing Yan, Ariel Mendlowitz, Robert M. Hamilton
PLoS One. 2014; 9(10): e109128. Published online 2014 Oct 24. doi: 10.1371/journal.pone.0109128
PMCID:
PMC4208740
AbstractArticlePDF–1.8M
3.
Cadherin 2-Related Arrhythmogenic Cardiomyopathy: Prevalence and Clinical Features
Alice Ghidoni, Perry M. Elliott, Petros Syrris, Hugh Calkins, Cynthia A. James, Daniel P. Judge, Brittney Murray, Julien Barc, Vincent Probst, Jean Jacques Schott, Jiang-Ping Song, Richard N.W. Hauer, Edgar T. Hoorntje, J. Peter van Tintelen, Eric Schulze-Bahr, Robert M. Hamilton, Kirti Mittal, Christopher Semsarian, Elijah R. Behr, Michael J. Ackerman, Cristina Basso, Gianfranco Parati, Davide Gentilini, Maria-Christina Kotta, Bongani M. Mayosi, Peter J. Schwartz, Lia Crotti
Circ Genom Precis Med. 2021 Apr; 14(2): e003097. Published online 2021 Feb 10. doi: 10.1161/CIRCGEN.120.003097
PMCID:
PMC8284361
AbstractArticlePDF–501K
4.
Familial Recurrent Myocarditis Triggered by Exercise in Patients With a Truncating Variant of the Desmoplakin Gene
Wolfgang Poller, Jan Haas, Karin Klingel, Jirko Kühnisch, Martina Gast, Ziya Kaya, Felicitas Escher, Elham Kayvanpour, Franziska Degener, Bernd Opgen‐Rhein, Felix Berger, Hans‐Christian Mochmann, Carsten Skurk, Bettina Heidecker, Heinz‐Peter Schultheiss, Lorenzo Monserrat, Benjamin Meder, Ulf Landmesser, Sabine Klaassen
J Am Heart Assoc. 2020 May 18; 9(10): e015289. Published online 2020 May 15. doi: 10.1161/JAHA.119.015289
PMCID:
PMC7660888
AbstractArticlePDF–2.8M
5.
Stop-Gain Mutations in PKP2 Are Associated with a Later Age of Onset of Arrhythmogenic Right Ventricular Cardiomyopathy
Mireia Alcalde, Oscar Campuzano, Paola Berne, Pablo García-Pavía, Ada Doltra, Elena Arbelo, Georgia Sarquella-Brugada, Anna Iglesias, Luis Alonso-Pulpon, Josep Brugada, Ramon Brugada
PLoS One. 2014; 9(6): e100560. Published online 2014 Jun 26. doi: 10.1371/journal.pone.0100560
PMCID:
PMC4072667
AbstractArticlePDF–569K
6.
Monozygotic twins with myocarditis and a novel likely pathogenic desmoplakin gene variant
Antheia Kissopoulou, Eva Fernlund, Christina Holmgren, Eira Isaksson, Jan‐Erik Karlsson, Henrik Green, Jon Jonasson, Rada Ellegård, Hanna Klang Årstrand, Anneli Svensson, Cecilia Gunnarsson
ESC Heart Fail. 2020 Jun; 7(3): 1210–1216. Published online 2020 Apr 17. doi: 10.1002/ehf2.12658
PMCID:
PMC7261567
AbstractArticlePDF–3.2M
7.
Biventricular myocardial strain analysis in patients with arrhythmogenic right ventricular cardiomyopathy (ARVC) using cardiovascular magnetic resonance feature tracking
Philipp Heermann, Dennis M Hedderich, Matthias Paul, Christoph Schülke, Jan Robert Kroeger, Bettina Baeßler, Thomas Wichter, David Maintz, Johannes Waltenberger, Walter Heindel, Alexander C Bunck
J Cardiovasc Magn Reson. 2014; 16(1): 75. Published online 2014 Oct 7. doi: 10.1186/s12968-014-0075-z
PMCID:
PMC4189682
AbstractArticlePDF–2.4M
8.
High penetrance and similar disease progression in probands and in family members with arrhythmogenic cardiomyopathy
Monica Chivulescu, Øyvind H Lie, Bogdan A Popescu, Helge Skulstad, Thor Edvardsen, Ruxandra O Jurcut, Kristina H Haugaa
Eur Heart J. 2020 Apr 7; 41(14): 1401–1410. Published online 2019 Sep 1. doi: 10.1093/eurheartj/ehz570
PMCID:
PMC7138527
AbstractArticlePDF–3.3M
9.
Long term CMR follow up of patients with right ventricular abnormality and clinically suspected arrhythmogenic right ventricular cardiomyopathy (ARVC)
Giuseppe Femia, Christopher Semsarian, Mark McGuire, Raymond W. Sy, Rajesh Puranik
J Cardiovasc Magn Reson. 2019; 21: 76. Published online 2019 Dec 12. doi: 10.1186/s12968-019-0581-0
PMCID:
PMC6909455
AbstractArticlePDF–699K
10.
Arrhythmogenic right ventricular cardiomyopathy type 6 (ARVC6): support for the locus assignment, narrowing of the critical region and mutation screening of three candidate genes
Luzuko O Matolweni, Soraya Bardien, George Rebello, Ekow Oppon, Miroslav Munclinger, Rajkumar Ramesar, Hugh Watkins, Bongani M Mayosi
BMC Med Genet. 2006; 7: 29. Published online 2006 Mar 28. doi: 10.1186/1471-2350-7-29
PMCID:
PMC1444927
AbstractArticlePDF–283K
11.
Absence of a primary role for TTN missense variants in arrhythmogenic cardiomyopathy: From a clinical and pathological perspective
Kai Chen, Jiangping Song, Zhen Wang, Man Rao, Liang Chen, Shengshou Hu
Clin Cardiol. 2018 May; 41(5): 615–622. Published online 2018 May 11. doi: 10.1002/clc.22906
PMCID:
PMC6490078
AbstractArticlePDF–1.6M
12.
Vigorous physical activity impairs myocardial function in patients with arrhythmogenic right ventricular cardiomyopathy and in mutation positive family members
Jørg Saberniak, Nina E Hasselberg, Rasmus Borgquist, Pyotr G Platonov, Sebastian I Sarvari, Hans-Jørgen Smith, Margareth Ribe, Anders G Holst, Thor Edvardsen, Kristina H Haugaa
Eur J Heart Fail. 2014 Dec; 16(12): 1337–1344. Published online 2014 Oct 16. doi: 10.1002/ejhf.181
PMCID:
PMC4278531
AbstractArticlePDF–236K
13.
Diagnostic and therapeutic strategies for arrhythmogenic right ventricular dysplasia/cardiomyopathy patient
Weijia Wang, Cynthia A James, Hugh Calkins
Europace. 2019 Jan; 21(1): 9–21. Published online 2018 Apr 23. doi: 10.1093/europace/euy063
PMCID:
PMC6321962
AbstractArticlePDF–722K
14.
Exercise has a Disproportionate Role in the Pathogenesis of Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy in Patients Without Desmosomal Mutations
Abhishek C. Sawant, Aditya Bhonsale, Anneline S. J. M. te Riele, Crystal Tichnell, Brittney Murray, Stuart D. Russell, Harikrishna Tandri, Ryan J. Tedford, Daniel P. Judge, Hugh Calkins, Cynthia A. James
J Am Heart Assoc. 2014 Dec; 3(6): e001471. Published online 2014 Dec 16. doi: 10.1161/JAHA.114.001471
PMCID:
PMC4338738
AbstractArticlePDF–384K
15.
Titin and desmosomal genes in the natural history of arrhythmogenic right ventricular cardiomyopathy
Francesca Brun, Carl V. Barnes, Gianfranco Sinagra, Dobromir Slavov, Giulia Barbati, Xiao Zhu, Sharon L. Graw, Anita Spezzacatene, Bruno Pinamonti, Marco Merlo, Ernesto E. Salcedo, William H. Sauer, Matthew R.G. Taylor, Luisa Mestroni
J Med Genet. Author manuscript; available in PMC 2015 Jun 14.
Published in final edited form as: J Med Genet. 2014 Oct; 51(10): 669–676. Published online 2014 Aug 25. doi: 10.1136/jmedgenet-2014-102591
PMCID:
PMC4465780
AbstractArticlePDF–754K
16.
Characterizing the Molecular Pathology of Arrhythmogenic Cardiomyopathy in Patient Buccal Mucosa Cells
Angeliki Asimaki, Alexandros Protonotarios, Cynthia A. James, Stephen P. Chelko, Crystal Tichnell, Brittney Murray, Adalena Tsatsopoulou, Aris Anastasakis, Anneline te Riele, André G. Kléber, Daniel P. Judge, Hugh Calkins, Jeffrey E. Saffitz
Circ Arrhythm Electrophysiol. Author manuscript; available in PMC 2017 Feb 1.
Published in final edited form as: Circ Arrhythm Electrophysiol. 2016 Feb; 9(2): e003688. doi: 10.1161/CIRCEP.115.003688
PMCID:
PMC4785796
AbstractArticlePDF–520K
17.
Genotype-phenotype relationship in patients with arrhythmogenic right ventricular cardiomyopathy caused by desmosomal gene mutations: A systematic review and meta-analysis
Zhenyan Xu, Wengen Zhu, Cen Wang, Lin Huang, Qiongqiong Zhou, Jinzhu Hu, Xiaoshu Cheng, Kui Hong
Sci Rep. 2017; 7: 41387. Published online 2017 Jan 25. doi: 10.1038/srep41387
PMCID:
PMC5264593
AbstractArticlePDF–1.1M
18.
Importance of genotype for risk stratification in arrhythmogenic right ventricular cardiomyopathy using the 2019 ARVC risk calculator
Alexandros Protonotarios, Riccardo Bariani, Chiara Cappelletto, Menelaos Pavlou, Alba García-García, Alberto Cipriani, Ioannis Protonotarios, Adrian Rivas, Regitze Wittenberg, Maddalena Graziosi, Zafeirenia Xylouri, José M Larrañaga-Moreira, Antonio de Luca, Rudy Celeghin, Kalliopi Pilichou, Athanasios Bakalakos, Luis Rocha Lopes, Konstantinos Savvatis, Davide Stolfo, Matteo Dal Ferro, Marco Merlo, Cristina Basso, Javier Limeres Freire, Jose F Rodriguez-Palomares, Toru Kubo, Tomas Ripoll-Vera, Roberto Barriales-Villa, Loizos Antoniades, Jens Mogensen, Pablo Garcia-Pavia, Karim Wahbi, Elena Biagini, Aris Anastasakis, Adalena Tsatsopoulou, Esther Zorio, Juan R Gimeno, Jose Manuel Garcia-Pinilla, Petros Syrris, Gianfranco Sinagra, Barbara Bauce, Perry M Elliott
Eur Heart J. 2022 Aug 21; 43(32): 3053–3067. Published online 2022 Jun 29. doi: 10.1093/eurheartj/ehac235
Correction in:
Eur Heart J. 2022 Nov 1; 43(41): 4373.
PMCID:
PMC9392652
AbstractArticlePDF–2.6M
19.
ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY/DYSPLASIA: RISK STRATIFICATION AND THERAPY
Gianfranco Buja, N.A. Mark Estes, III, Thomas Wichter, Domenico Corrado, Frank Marcus, Gaetano Thiene.
Prog Cardiovasc Dis. Author manuscript; available in PMC 2009 Jan 1.
Published in final edited form as: Prog Cardiovasc Dis. 2008; 50(4): 282–293. doi: 10.1016/j.pcad.2007.10.004
PMCID:
PMC2225487
AbstractArticlePDF–613K
20.
Arrhythmogenic Right Ventricular Cardiomyopathy Type 5 Is a Fully Penetrant, Lethal Arrhythmic Disorder Caused by a Missense Mutation in the TMEM43 Gene
Nancy D. Merner, Kathy A. Hodgkinson, Annika F.M. Haywood, Sean Connors, Vanessa M. French, Jörg-Detlef Drenckhahn, Christine Kupprion, Kalina Ramadanova, Ludwig Thierfelder, William McKenna, Barry Gallagher, Lynn Morris-Larkin, Anne S. Bassett, Patrick S. Parfrey, Terry-Lynn Young
Am J Hum Genet. 2008 Apr 11; 82(4): 809–821. Published online 2008 Apr 4. doi: 10.1016/j.ajhg.2008.01.010
PMCID:
PMC2427209
AbstractArticlePDF–3.0M

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