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Items: 1 to 20 of 110

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
ArticlePDF–9.7M
2.
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
ArticlePDF–1.1M
3.
Prevalence and Disease Expression of Pathogenic and Likely Pathogenic Variants Associated With Inherited Cardiomyopathies in the General Population
Mimount Bourfiss, Marion van Vugt, Abdulrahman I. Alasiri, Bram Ruijsink, Jessica van Setten, A. Floriaan Schmidt, Dennis Dooijes, Esther Puyol-Antón, Birgitta K. Velthuis, J. Peter van Tintelen, Anneline S.J.M. te Riele, Annette F. Baas, Folkert W. Asselbergs
Circ Genom Precis Med. 2022 Dec; 15(6): e003704. Published online 2022 Oct 20. doi: 10.1161/CIRCGEN.122.003704
PMCID:
PMC9770140
ArticlePDF–849K
4.
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
ArticlePDF–706K
5.
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
ArticlePDF–788K
6.
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
ArticlePDF–2.6M
7.
Establishment of a Dedicated Inherited Cardiomyopathy Clinic: From Challenges to Improved Patients’ Outcome
Emily Smith, Paul D. Thompson, Carolyn Burke‐Martindale, Adaya Weissler‐Snir
J Am Heart Assoc. 2022 May 3; 11(9): e024501. Published online 2022 Apr 26. doi: 10.1161/JAHA.121.024501
PMCID:
PMC9238612
ArticlePDF–668K
8.
Progressive Reduction in Right Ventricular Contractile Function Due to Altered Actin Expression in an Aging Mouse Model of Arrhythmogenic Cardiomyopathy
Emmanuel M. Camors, Alyson H. Roth, Joseph R. Alef, Ryan D. Sullivan, Jason N. Johnson, Enkhsaikhan Purevjav, Jeffrey A. Towbin
Circulation. Author manuscript; available in PMC 2023 May 24.
Published in final edited form as: Circulation. 2022 May 24; 145(21): 1609–1624. Published online 2022 Apr 19. doi: 10.1161/CIRCULATIONAHA.120.049261
PMCID:
PMC9133220
ArticlePDF–1.9M
9.
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
ArticlePDF–1.8M
10.
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
ArticlePDF–501K
11.
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
ArticlePDF–4.4M
12.
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
ArticlePDF–3.2M
13.
A microRNA Expression Profile as Non-Invasive Biomarker in a Large Arrhythmogenic Cardiomyopathy Cohort
Maria Bueno Marinas, Rudy Celeghin, Marco Cason, Riccardo Bariani, Anna Chiara Frigo, Joanna Jager, Petros Syrris, Perry M. Elliott, Barbara Bauce, Gaetano Thiene, Domenico Corrado, Cristina Basso, Kalliopi Pilichou
Int J Mol Sci. 2020 Feb; 21(4): 1536. Published online 2020 Feb 24. doi: 10.3390/ijms21041536
PMCID:
PMC7073183
ArticlePDF–3.0M
14.
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
ArticlePDF–699K
15.
Respiratory syncytial virus-associated mortality in a healthy 3-year-old child: a case report
A. Gavotto, A. Ousselin, O. Pidoux, P. Cathala, V. Costes-Martineau, B. Rivière, J. L. Pasquié, P. Amedro, C. Rambaud, G. Cambonie
BMC Pediatr. 2019; 19: 462. Published online 2019 Nov 27. doi: 10.1186/s12887-019-1847-2
PMCID:
PMC6880595
ArticlePDF–1.8M
16.
Severe Cardiac Dysfunction and Death Caused by Arrhythmogenic Right Ventricular Cardiomyopathy Type 5 Are Improved by Inhibition of Glycogen Synthase Kinase-3β
Laura Padrón-Barthe, María Villalba-Orero, Jesús M. Gómez-Salinero, Fernando Domínguez, Marta Román, Javier Larrasa-Alonso, Paula Ortiz-Sánchez, Fernando Martínez, Marina López-Olañeta, Elena Bonzón-Kulichenko, Jesús Vázquez, Carlos Martí-Gómez, Demetrio J. Santiago, Belén Prados, Giovanna Giovinazzo, María Victoria Gómez-Gaviro, Silvia Priori, Pablo Garcia-Pavia, Enrique Lara-Pezzi
Circulation. 2019 Oct 1; 140(14): 1188–1204. Published online 2019 Sep 5. doi: 10.1161/CIRCULATIONAHA.119.040366
PMCID:
PMC6784777
ArticlePDF–3.5M
17.
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
ArticlePDF–1.6M
18.
How ARVC-Related Mutations Destabilize Desmoplakin: An MD Study
Csaba Daday, Laura Marlene Mateyka, Frauke Gräter
Biophys J. 2019 Mar 5; 116(5): 831–835. Published online 2019 Jan 30. doi: 10.1016/j.bpj.2019.01.023
PMCID:
PMC6403075
ArticlePDF–997K
19.
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
ArticlePDF–842K
20.
Clinical profile in arrhythmogenic cardiomyopathy and a recessive plakophilin-2 gene mutation
Muzaffar Ali, Imtiyaz A. Bhat, Imran Hafeez, Mohd Iqbal Dar, Jahangir Rashid Beig, Zafar Amin Shah, Khurshid Iqbal
Indian Heart J. 2018 May-Jun; 70(3): 421–426. Published online 2017 Oct 20. doi: 10.1016/j.ihj.2017.10.010
PMCID:
PMC6034022
ArticlePDF–2.2M

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