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Clinical features and outcomes in carriers of pathogenic desmoplakin variants Gasperetti, Alessio; Carrick, Richard T.; Protonotarios, Alexandros; Murray, Brittney; Laredo, Mikael; van der Schaaf, Iris; Lekanne, Ronald H.; Syrris, Petros; Cannie, Douglas; Tichnell, Crystal; Cappelletto, Chiara; Gigli, Marta; Medo, Kristen; Saguner, Ardan M.; Duru, Firat; Gilotra, Nisha A.; Zimmerman, Stefan; Hylind, Robyn; Abrams, Dominic J.; Lakdawala, Neal K.; Cadrin-Tourigny, Julia; Targetti, Mattia; Olivotto, Iacopo; Graziosi, Maddalena; Cox, Moniek; Biagini, Elena; Charron, Philippe; Casella, Michela; Tondo, Claudio; Yazdani, Momina; Ware, James S.; Prasad, Sanjay K.; Calo, Leonardo; Smith, Eric D.; Helms, Adam S.; Hespe, Sophie; Ingles, Jodie; Tandri, Harikrishna; Ader, Flavie; Peretto, Giovanni; Peters, Stacey; Horton, Ari; Yao, Jess; Dittmann, Sven; Schulze-Bahr, Eric; Qureshi, Maria; Young, Katelyn; Carruth, Eric D.; Haggerty, Chris; Parikh, Victoria N.; Taylor, Matthew; Mestroni, Luisa; Wilde, Arthur; Sinagra, Gianfranco; Merlo, Marco; Gandjbakhch, Estelle; van Tintelen, J. Peter; te Riele, Anneline S. J. M.; Elliott, Perry M.; Calkins, Hugh; James, Cynthia A. 分享 收藏
A novel tool for arrhythmic risk stratification in desmoplakin gene variant carriers Carrick, Richard T.; Gasperetti, Alessio; Protonotarios, Alexandros; Murray, Brittney; Laredo, Mikael; van der Schaaf, Iris; Dooijes, Dennis; Syrris, Petros; Cannie, Douglas; Tichnell, Crystal; Gilotra, Nisha A.; Cappelletto, Chiara; Medo, Kristen; Saguner, Ardan M.; Duru, Firat; Hylind, Robyn J.; Abrams, Dominic J.; Lakdawala, Neal K.; Cadrin-Tourigny, Julia; Targetti, Mattia; Olivotto, Iacopo; Graziosi, Maddalena; Cox, Moniek; Biagini, Elena; Charron, Philippe; Compagnucci, Paolo; Casella, Michela; Conte, Giulio; Tondo, Claudio; Yazdani, Momina; Ware, James S.; Prasad, Sanjay K.; Calo, Leonardo; Smith, Eric D.; Helms, Adam S.; Hespe, Sophie; Ingles, Jodie; Tandri, Harikrishna; Ader, Flavie; Peretto, Giovanni; Peters, Stacey; Horton, Ari; Yao, Jessica; Schulze-Bahr, Eric; Dittman, Sven; Carruth, Eric D.; Young, Katelyn; Qureshi, Maria; Haggerty, Chris; Parikh, Victoria N.; Taylor, Matthew; Mestroni, Luisa; Wilde, Arthur; Sinagra, Gianfranco; Merlo, Marco; Gandjbakhch, Estelle; van Tintelen, J. Peter; te Riele, Anneline S. J. M.; Elliot, Perry; Calkins, Hugh; Wu, Katherine C.; James, Cynthia A. 分享 收藏
Phenotype and Clinical Outcomes in Desmin-Related Arrhythmogenic Cardiomyopathy 与Desmin相关的心律失常性心肌病的表型和临床结局 Bermudez-Jimenez, Francisco J.; Protonotarios, Alexandros; Garcia-Hernandez, Soledad; Asensio, Ana Perez; Rampazzo, Alessandra; Zorio, Esther; Brodehl, Andreas; Arias, Miguel A.; Macias-Ruiz, Rosa; Fernandez-Armenta, Juan; Perez, Paloma Remior; Munoz-Esparza, Carmen; Pilichou, Kalliopi; Bauce, Barbara; Merino, Jose L.; Moliner-Abos, Carlos; Ochoa, Juan P.; Barriales-Villa, Roberto; Garcia-Pavia, Pablo; Lopes, Luis R.; Syrris, Petros; Corrado, Domenico; Elliott, Perry M.; McKenna, William J.; Jimenez-Jaimez, Juan 分享 收藏
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Risks of Ventricular Arrhythmia and Heart Failure in Carriers of RBM20 Variants Cannie, Douglas E.; Protonotarios, Alexandros; Bakalakos, Athanasios; Syrris, Petros; Lorenzini, Massimiliano; De Stavola, Bianca; Bjerregaard, Louise; Dybro, Anne M.; Hey, Thomas M.; Hansen, Frederikke G.; Navarro Penalver, Marina; Crespo-Leiro, Maria G.; Larranaga-Moreira, Jose M.; de Frutos, Fernando; Johnson, Renee; Slater, Thomas A.; Monserrat, Lorenzo; Sengupta, Anshuman; Mestroni, Luisa; Taylor, Matthew R. G.; Sinagra, Gianfranco; Bilinska, Zofia; Solla-Ruiz, Itziar; Arana Achaga, Xabier; Barriales-Villa, Roberto; Garcia-Pavia, Pablo; Gimeno, Juan R.; Dal Ferro, Matteo; Merlo, Marco; Wahbi, Karim; Fatkin, Diane; Mogensen, Jens; Rasmussen, Torsten B.; Elliott, Perry M. 分享 收藏
Structure determination and analysis of titin A-band fibronectin type III domains provides insights for disease-linked variants and protein oligomerisation Rees, Martin; Nikoopour, Roksana; Alexandrovich, Alexander; Pfuhl, Mark; Lopes, Luis R.; Akhtar, Mohammed M.; Syrris, Petros; Elliott, Perry; Carr-White, Gerry; Gautel, Mathias 分享 收藏
Emery-Dreifuss muscular dystrophy Type 1 is associated with a high risk of malignant ventricular arrhythmias and end-stage heart failure Cannie, Douglas E.; Syrris, Petros; Protonotarios, Alexandros; Bakalakos, Athanasios; Pruny, Jean-Francois; Ditaranto, Raffaello; Martinez-Veira, Cristina; Larranaga-Moreira, Jose M.; Medo, Kristen; Bermudez-Jimenez, Francisco Jose; Ben Yaou, Rabah; Leturcq, France; Mezcua, Ainhoa Robles; Marini-Bettolo, Chiara; Cabrera, Eva; Reuter, Chloe; Freire, Javier Limeres; Rodriguez-Palomares, Jose F.; Mestroni, Luisa; Taylor, Matthew R. G.; Parikh, Victoria N.; Ashley, Euan A.; Barriales-Villa, Roberto; Jimenez-Jaimez, Juan; Garcia-Pavia, Pablo; Charron, Philippe; Biagini, Elena; Pinilla, Jose M. Garcia; Bourke, John; Savvatis, Konstantinos; Wahbi, Karim; Elliott, Perry M. 分享 收藏
Systolic anterior motion of the anterior mitral valve leaflet begins in subclinical hypertrophic cardiomyopathy Seitler, Samuel; Anthony, Surani De Zoysa; Obianyo, Chinwe C. C.; Syrris, Petros; Patel, Vimal; Sado, Daniel M.; Maestrini, Viviana; Castelletti, Silvia; Walsh, Stephen; O'Brien, Ben; Moon, James C.; Captur, Gabriella 分享 收藏
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Post-genomic atrial and ventricular myocardial proteome of end-stage lamin heart disease: a prospective clinical trial Topriceanu, Cristian; Syrris, Petros; Shiwani, Hunain; Pettit, Stephen; Moody, William; Mohiddin, Saidi A.; Moon, James; Chan, Fiona; Vowinckel, Jakob; Captur, Gabriella; Coats, Caroline; Hughes, Alun D.; O'Brien, Benjamin; Alfarih, Mashael; Arbustini, Eloisa; Steeds, Richard 分享 收藏
Alpha kinase 3 signaling at the M-band maintains sarcomere integrity and proteostasis in striated muscle McNamara, James W.; Parker, Benjamin L.; Voges, Holly K.; Mehdiabadi, Neda R.; Bolk, Francesca; Ahmad, Feroz; Chung, Jin D.; Charitakis, Natalie; Molendijk, Jeffrey; Zech, Antonia T. L.; Lal, Sean; Ramialison, Mirana; Karavendzas, Kathy; Pointer, Hayley L.; Syrris, Petros; Lopes, Luis R.; Elliott, Perry M.; Lynch, Gordon S.; Mills, Richard J.; Hudson, James E.; Watt, Kevin I.; Porrello, Enzo R.; Elliott, David A. 分享 收藏
Integrin α7 Mutations Are Associated With Adult-Onset Cardiac Dysfunction in Humans and Mice Bugiardini, Enrico; Nunes, Andreia M.; Oliveira-Santos, Ariany; Dagda, Marisela; Fontelonga, Tatiana M.; Barraza-Flores, Pamela; Pittman, Alan M.; Morrow, Jasper M.; Parton, Matthew; Houlden, Henry; Elliott, Perry M.; Syrris, Petros; Maas, Roderick P.; Akhtar, Mohammed M.; Kusters, Benno; Raaphorst, Joost; Schouten, Meyke; Kamsteeg, Erik-Jan; van Engelen, Baziel; Hanna, Michael G.; Phadke, Rahul; Lopes, Luis R.; Matthews, Emma; Burkin, Dean J. 分享 收藏
Importance of genotype for risk stratification in arrhythmogenic right ventricular cardiomyopathy using the 2019 ARVC risk calculator Protonotarios, Alexandros; Bariani, Riccardo; Cappelletto, Chiara; Pavlou, Menelaos; Garcia-Garcia, Alba; Cipriani, Alberto; Protonotarios, Ioannis; Rivas, Adrian; Wittenberg, Regitze; Graziosi, Maddalena; Xylouri, Zafeirenia; Larranaga-Moreira, Jose M.; de Luca, Antonio; Celeghin, Rudy; Pilichou, Kalliopi; Bakalakos, Athanasios; Lopes, Luis Rocha; Savvatis, Konstantinos; Stolfo, Davide; Dal Ferro, Matteo; Merlo, Marco; Basso, Cristina; Limeres Freire, Javier; Rodriguez-Palomares, Jose F.; Kubo, Toru; Ripoll-Vera, Tomas; Barriales-Villa, Roberto; Antoniades, Loizos; Mogensen, Jens; Garcia-Pavia, Pablo; Wahbi, Karim; Biagini, Elena; Anastasakis, Aris; Tsatsopoulou, Adalena; Zorio, Esther; Gimeno, Juan R.; Manuel Garcia-Pinilla, Jose; Syrris, Petros; Sinagra, Gianfranco; Bauce, Barbara; Elliott, Perry M. 分享 收藏
The genetic architecture of Plakophilin 2 cardiomyopathy (Jun, 10.1038/s41436-021-01233-7, 2021) Plakophilin 2心肌病的遗传结构 (6月,10.1038/s41436-021-01233-7,2021) Dries, Annika M.; Kirillova, Anna; Reuter, Chloe M.; Garcia, John; Zouk, Hana; Hawley, Megan; Murray, Brittney; Tichnell, Crystal; Pilichou, Kalliopi; Protonotarios, Alexandros; Medeiros-Domingo, Argelia; Kelly, Melissa A.; Baras, Aris; Ingles, Jodie; Semsarian, Christopher; Bauce, Barbara; Celeghin, Rudy; Basso, Cristina; Jongbloed, Jan D. H.; Nussbaum, Robert L.; Funke, Birgit; Cerrone, Marina; Mestroni, Luisa; Taylor, Matthew R. G.; Sinagra, Gianfranco; Merlo, Marco; Saguner, Ardan M.; Elliott, Perry M.; Syrris, Petros; van Tintelen, J. Peter; James, Cynthia A.; Haggerty, Christopher M.; Parikh, Victoria N. 分享 收藏