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Select item 43835831.

Clinical and Functional Characterization of a Novel Mutation in Lamin A/C Gene in a Multigenerational Family with Arrhythmogenic Cardiac Laminopathy

Cinzia Forleo, Monica Carmosino, Nicoletta Resta, Alessandra Rampazzo, Rosanna Valecce, Sandro Sorrentino, Massimo Iacoviello, Francesco Pisani, Giuseppe Procino, Andrea Gerbino, Arnaldo Scardapane, Cristiano Simone, Martina Calore, Silvia Torretta, Maria Svelto, Stefano Favale

PLoS One. 2015; 10(4): e0121723. Published online 2015 Apr 2. doi: 10.1371/journal.pone.0121723

PMCID:: PMC4383583

Abstract Article PDF–6.7M

Select item 38099922.

Exercise Increases Age-Related Penetrance and Arrhythmic Risk in Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy Associated Desmosomal Mutation Carriers

Cynthia A. James, Aditya Bhonsale, Crystal Tichnell, Brittney Murray, Stuart D. Russell, Harikrishna Tandri, Ryan J. Tedford, Daniel P. Judge, Hugh Calkins

J Am Coll Cardiol. Author manuscript; available in PMC 2014 Oct 1.

Published in final edited form as: J Am Coll Cardiol. 2013 Oct 1; 62(14): 10.1016/j.jacc.2013.06.033. Published online 2013 Jul 17. doi: 10.1016/j.jacc.2013.06.033

PMCID:: PMC3809992

Abstract Article PDF–1.0M

Select item 40408753.

The Electrocardiographic Manifestations of Arrhythmogenic Right Ventricular Dysplasia

Li Zhang, Liwen Liu, Peter R Kowey, Guy H Fontaine

Curr Cardiol Rev. 2014 Aug; 10(3): 237–245. Published online 2014 Aug. doi: 10.2174/1573403X10666140514102928

PMCID:: PMC4040875

Abstract Article PDF–685K

Select item 40726674.

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

Abstract Article PDF–569K

Select item 41649535.

Disease mutations in desmoplakin inhibit Cx43 membrane targeting mediated by desmoplakin–EB1 interactions

Dipal M. Patel, Adi D. Dubash, Geri Kreitzer, Kathleen J. Green

J Cell Biol. 2014 Sep 15; 206(6): 779–797. doi: 10.1083/jcb.201312110

PMCID:: PMC4164953

Abstract Article PDF–6.3M

Select item 41896826.

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

Abstract Article PDF–2.4M

Select item 42087407.

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

Abstract Article PDF–1.8M

Select item 42785318.

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

Abstract Article PDF–236K

Select item 43300779.

Arrhythmogenic Cardiomyopathy in a Patient With a Rare Loss‐of‐Function KCNQ1 Mutation

Qinmei Xiong, Qing Cao, Qiongqiong Zhou, Jinyan Xie, Yang Shen, Rong Wan, Jianhua Yu, Sujuan Yan, Ali J. Marian, Kui Hong

J Am Heart Assoc. 2015 Jan; 4(1): e001526. Published online 2015 Jan 23. doi: 10.1161/JAHA.114.001526

PMCID:: PMC4330077

Abstract Article PDF–1.8M

Select item 433873610.

Phenotypic Analysis of Arrhythmogenic Cardiomyopathy in the Hutterite Population: Role of Electrocardiogram in Identifying High‐Risk Desmocollin‐2 Carriers

Jorge A. Wong, Henry J. Duff, Tiffany Yuen, Louis Kolman, Derek V. Exner, Sarah G. Weeks, Brenda Gerull

J Am Heart Assoc. 2014 Dec; 3(6): e001407. Published online 2014 Dec 11. doi: 10.1161/JAHA.114.001407

PMCID:: PMC4338736

Abstract Article PDF–478K

Select item 433873811.

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

Abstract Article PDF–384K

Select item 438022112.

The Yield of Serial Evaluation in At-Risk Family Members of Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy Patients

Anneline S.J.M. te Riele, Cynthia A. James, Neda Rastegar, Aditya Bhonsale, Brittney Murray, Crystal Tichnell, Daniel P. Judge, David A. Bluemke, Stefan L. Zimmerman, Ihab R. Kamel, Hugh Calkins, Harikrishna Tandri

J Am Coll Cardiol. Author manuscript; available in PMC 2015 Jul 22.

Published in final edited form as: J Am Coll Cardiol. 2014 Jul 22; 64(3): 293–301. doi: 10.1016/j.jacc.2014.04.044

PMCID:: PMC4380221

Abstract Article PDF–513K

Select item 378103313.

Desmosomal Cadherins Are Decreased in Explanted Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy Patient Hearts

Alexia Vite, Estelle Gandjbakhch, Catherine Prost, Veronique Fressart, Pierre Fouret, Nathalie Neyroud, Françoise Gary, Erwan Donal, Shaida Varnous, Guy Fontaine, Paul Fornes, Françoise Hidden-Lucet, Michel Komajda, Philippe Charron, Eric Villard

PLoS One. 2013; 8(9): e75082. Published online 2013 Sep 23. doi: 10.1371/journal.pone.0075082

PMCID:: PMC3781033

Abstract Article PDF–1.7M

Select item 446578014.

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

Abstract Article PDF–754K

Select item 449612815.

Abnormal connexin43 in arrhythmogenic right ventricular cardiomyopathy caused by plakophilin-2 mutations

Lee M Fidler, Gregory J Wilson, Fanfan Liu, Xuezhi Cui, Stephen W Scherer, Glenn P Taylor, Robert M Hamilton

J Cell Mol Med. 2009 Oct; 13(10): 4219–4228. Published online 2008 Jul 26. doi: 10.1111/j.1582-4934.2008.00438.x

PMCID:: PMC4496128

Abstract Article PDF–1.0M

Select item 478579616.

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

Abstract Article PDF–520K

Select item 485795317.

Natural History of Arrhythmogenic Right Ventricular Cardiomyopathy in the Boxer Dog: A Prospective Study

K.M. Meurs, J.A. Stern, Y. Reina‐Doreste, A.W. Spier, S.L. Koplitz, R.D. Baumwart

J Vet Intern Med. 2014 Jul-Aug; 28(4): 1214–1220. Published online 2014 Jun 24. doi: 10.1111/jvim.12385

PMCID:: PMC4857953

Abstract Article PDF–124K

Select item 493008118.

Plakophilin-2 c.419C>T and risk of heart failure and arrhythmias in the general population

Alex Hørby Christensen, Pia Rørbœk Kamstrup, Estelle Gandjbakhch, Marianne Benn, Jan Skov Jensen, Henning Bundgaard, Eric Villard, Anne Tybjærg-Hansen

Eur J Hum Genet. 2016 May; 24(5): 732–738. Published online 2015 Aug 12. doi: 10.1038/ejhg.2015.171

PMCID:: PMC4930081

Abstract Article PDF–1.0M

Select item 499349019.

Cardiomyocyte-Specific Ablation of Med1 Subunit of the Mediator Complex Causes Lethal Dilated Cardiomyopathy in Mice

Yuzhi Jia, Hsiang-Chun Chang, Matthew J. Schipma, Jing Liu, Varsha Shete, Ning Liu, Tatsuya Sato, Edward B. Thorp, Philip M. Barger, Yi-Jun Zhu, Navin Viswakarma, Yashpal S. Kanwar, Hossein Ardehali, Bayar Thimmapaya, Janardan K. Reddy

PLoS One. 2016; 11(8): e0160755. Published online 2016 Aug 22. doi: 10.1371/journal.pone.0160755

Correction in:: PLoS One. 2016; 11(9): e0164316.

PMCID:: PMC4993490

Abstract Article PDF–2.2M

Select item 554058520.

Contribution of exome sequencing for genetic diagnostic in arrhythmogenic right ventricular cardiomyopathy/dysplasia

Joel Fedida, Veronique Fressart, Philippe Charron, Elodie Surget, Tiphaine Hery, Pascale Richard, Erwan Donal, Boris Keren, Guillaume Duthoit, Françoise Hidden-Lucet, Eric Villard, Estelle Gandjbakhch

PLoS One. 2017; 12(8): e0181840. Published online 2017 Aug 2. doi: 10.1371/journal.pone.0181840