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Items: 1 to 20 of 29

1.
Single-cell RNA sequencing in donor and end-stage heart failure patients identifies NLRP3 as a therapeutic target for arrhythmogenic right ventricular cardiomyopathy
Mengxia Fu, Xiumeng Hua, Songren Shu, Xinjie Xu, Hang Zhang, Zhiming Peng, Han Mo, Yanyun Liu, Xiao Chen, Yicheng Yang, Ningning Zhang, Xiaohu Wang, Zirui Liu, Guangxin Yue, Shengshou Hu, Jiangping Song
BMC Med. 2024; 22: 11. Published online 2024 Jan 8. doi: 10.1186/s12916-023-03232-8
PMCID:
PMC10773142
AbstractArticlePDF–9.7M
2.
Arrhythmogenic left ventricular cardiomyopathy caused by a novel likely pathogenic DSP mutation, p.K1165Rfs*8, in a family with sudden cardiac death
Amir Azimi, Maryam Pourirahim, Golnaz Houshmand, Sara Adimi, Majid Maleki, Samira Kalayinia
BMC Med Genomics. 2023; 16: 266. Published online 2023 Oct 26. doi: 10.1186/s12920-023-01701-w
PMCID:
PMC10601356
AbstractArticlePDF–1.1M
3.
The Novel Variant NP_00454563.2 (p.Glu259Glyfs*77) in Gene PKP2 Associated with Arrhythmogenic Cardiomyopathy in 8 Families from Malaga, Spain
Ainhoa Robles-Mezcua, Amalio Ruíz-Salas, Carmen Medina-Palomo, María Robles-Mezcua, Arancha Díaz-Expósito, María Victoria Ortega-Jiménez, Juan Ramón Gimeno-Blanes, Manuel F. Jiménez-Navarro, José Manuel García-Pinilla
Genes (Basel) 2023 Jul; 14(7): 1468. Published online 2023 Jul 19. doi: 10.3390/genes14071468
PMCID:
PMC10379208
AbstractArticlePDF–1.1M
4.
Epicardial conduction abnormalities in patients with Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) and mutation positive healthy family members – A study using electrocardiographic imaging
Varvara Kommata, Elena Sciaraffia, Carina Blomström-Lundqvist
PLoS One. 2023; 18(1): e0280111. Published online 2023 Jan 5. doi: 10.1371/journal.pone.0280111
PMCID:
PMC9815642
AbstractArticlePDF–812K
5.
Highly malignant disease in childhood-onset arrhythmogenic right ventricular cardiomyopathy
Marit Kristine Smedsrud, Monica Chivulescu, Marianne Inngjerdingen Forså, Isotta Castrini, Eivind Westrum Aabel, Christine Rootwelt-Norberg, Martin Prøven Bogsrud, Thor Edvardsen, Nina Eide Hasselberg, Andreas Früh, Kristina Hermann Haugaa
Eur Heart J. 2022 Dec 1; 43(45): 4694–4703. Published online 2022 Aug 29. doi: 10.1093/eurheartj/ehac485
PMCID:
PMC9712025
AbstractArticlePDF–706K
6.
Genetic Architecture of Acute Myocarditis and the Overlap With Inherited Cardiomyopathy
Amrit S. Lota, Mark R. Hazebroek, Pantazis Theotokis, Rebecca Wassall, Sara Salmi, Brian P. Halliday, Upasana Tayal, Job Verdonschot, Devendra Meena, Ruth Owen, Antonio de Marvao, Alma Iacob, Momina Yazdani, Daniel J. Hammersley, Richard E. Jones, Riccardo Wage, Rachel Buchan, Fredrik Vivian, Yakeen Hafouda, Michela Noseda, John Gregson, Tarun Mittal, Joyce Wong, Jan Lukas Robertus, A. John Baksi, Vassilios Vassiliou, Ioanna Tzoulaki, Antonis Pantazis, John G.F. Cleland, Paul J.R. Barton, Stuart A. Cook, Dudley J. Pennell, Pablo Garcia-Pavia, Leslie T. Cooper, Jr, Stephane Heymans, James S. Ware, Sanjay K. Prasad
Circulation. 2022 Oct 11; 146(15): 1123–1134. Published online 2022 Sep 26. doi: 10.1161/CIRCULATIONAHA.121.058457
PMCID:
PMC9555763
AbstractArticlePDF–788K
7.
A Drosophila melanogaster model for TMEM43-related arrhythmogenic right ventricular cardiomyopathy type 5
Nora Klinke, Heiko Meyer, Sandra Ratnavadivel, Marcel Reinhardt, Jürgen J. Heinisch, Anders Malmendal, Hendrik Milting, Achim Paululat
Cell Mol Life Sci. 2022 Aug; 79(8): 444. Published online 2022 Jul 22. doi: 10.1007/s00018-022-04458-0
PMCID:
PMC9307560
AbstractArticlePDF–4.3M
8.
Rare and potential pathogenic mutations of LMNA and LAMA4 associated with familial arrhythmogenic right ventricular cardiomyopathy/dysplasia with right ventricular heart failure, cerebral thromboembolism and hereditary electrocardiogram abnormality
Jia Chen, Yuting Ma, Hong Li, Zhuo Lin, Zhe Yang, Qin Zhang, Feng Wang, Yanping Lin, Zebing Ye, Yubi Lin
Orphanet J Rare Dis. 2022; 17: 183. Published online 2022 May 7. doi: 10.1186/s13023-022-02348-z
PMCID:
PMC9077868
AbstractArticlePDF–2.1M
9.
Therapeutic Approaches of Ryanodine Receptor-Associated Heart Diseases
Norbert Szentandrássy, Zsuzsanna É. Magyar, Judit Hevesi, Tamás Bányász, Péter P. Nánási, János Almássy
Int J Mol Sci. 2022 Apr; 23(8): 4435. Published online 2022 Apr 18. doi: 10.3390/ijms23084435
PMCID:
PMC9031589
AbstractArticlePDF–357K
10.
Clinical presentations leading to arrhythmogenic left ventricular cardiomyopathy
Maddalena Graziosi, Raffaello Ditaranto, Claudio Rapezzi, Ferdinando Pasquale, Luigi Lovato, Ornella Leone, Vanda Parisi, Luciano Potena, Valentina Ferrara, Matteo Minnucci, Angelo Giuseppe Caponetti, Chiara Chiti, Alessandra Ferlini, Francesca Gualandi, Cesare Rossi, Alessandra Berardini, Giacomo Tini, Matteo Bertini, Matteo Ziacchi, Mauro Biffi, Nazzareno Galie, Iacopo Olivotto, Elena Biagini
Open Heart. 2022; 9(1): e001914. Published online 2022 Apr 20. doi: 10.1136/openhrt-2021-001914
PMCID:
PMC9021777
AbstractArticlePDF–1.8M
11.
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
12.
‘Hot phase’ clinical presentation in arrhythmogenic cardiomyopathy
Riccardo Bariani, Alberto Cipriani, Stefania Rizzo, Rudy Celeghin, Maria Bueno Marinas, Benedetta Giorgi, Monica De Gaspari, Ilaria Rigato, Loira Leoni, Alessandro Zorzi, Manuel De Lazzari, Alessandra Rampazzo, Sabino Iliceto, Gaetano Thiene, Domenico Corrado, Kalliopi Pilichou, Cristina Basso, Martina Perazzolo Marra, Barbara Bauce
Europace. 2021 Jun; 23(6): 907–917. Published online 2020 Dec 13. doi: 10.1093/europace/euaa343
PMCID:
PMC8184227
AbstractArticlePDF–748K
13.
Hemi- and Homozygous Loss-of-Function Mutations in DSG2 (Desmoglein-2) Cause Recessive Arrhythmogenic Cardiomyopathy with an Early Onset
Andreas Brodehl, Alexey Meshkov, Roman Myasnikov, Anna Kiseleva, Olga Kulikova, Bärbel Klauke, Evgeniia Sotnikova, Caroline Stanasiuk, Mikhail Divashuk, Greta Marie Pohl, Maria Kudryavtseva, Karin Klingel, Brenda Gerull, Anastasia Zharikova, Jan Gummert, Sergey Koretskiy, Stephan Schubert, Elena Mershina, Anna Gärtner, Polina Pilus, Kai Thorsten Laser, Valentin Sinitsyn, Sergey Boytsov, Oxana Drapkina, Hendrik Milting
Int J Mol Sci. 2021 Apr; 22(7): 3786. Published online 2021 Apr 6. doi: 10.3390/ijms22073786
PMCID:
PMC8038858
AbstractArticlePDF–4.4M
14.
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
15.
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
16.
Molecular analysis of inherited cardiomyopathy using next generation semiconductor sequencing technologies
Chaoxia Lu, Wei Wu, Fang Liu, Kunqi Yang, Jiacheng Li, Yaping Liu, Rongrong Wang, Nuo Si, Peng Gao, Yongtai Liu, Shuyang Zhang, Xue Zhang
J Transl Med. 2018; 16: 241. Published online 2018 Aug 30. doi: 10.1186/s12967-018-1605-5
PMCID:
PMC6117967
AbstractArticlePDF–842K
17.
Genetic analyses in a bonobo (Pan paniscus) with arrhythmogenic right ventricular cardiomyopathy
Patrícia B. S. Celestino-Soper, Ty C. Lynnes, Lili Zhang, Karen Ouyang, Samuel Wann, Victoria L. Clyde, Matteo Vatta
Sci Rep. 2018; 8: 4350. Published online 2018 Mar 12. doi: 10.1038/s41598-018-22334-5
PMCID:
PMC5847517
AbstractArticlePDF–1.7M
18.
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
19.
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
20.
Clinical phenotype and diagnosis of arrhythmogenic right ventricular cardiomyopathy in pediatric patients carrying desmosomal gene mutations
Barbara Bauce, Alessandra Rampazzo, Cristina Basso, Elisa Mazzotti, Ilaria Rigato, Alexandros Steriotis, Giorgia Beffagna, Alessandra Lorenzon, Marzia De Bortoli, Kalliopi Pilichou, Martina Perazzolo Marra, Francesco Corbetti, Luciano Daliento, Sabino Iliceto, Domenico Corrado, Gaetano Thiene, Andrea Nava
Heart Rhythm. 2011 Nov; 8(11): 1686–1695. doi: 10.1016/j.hrthm.2011.06.026
PMCID:
PMC3205183
AbstractArticle

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