Zobrazeno 1 - 10
of 56
pro vyhledávání: '"Francesca, Brun"'
Autor:
Daniel Cortez, Anneli Svensson, Jonas Carlson, Sharon Graw, Nandita Sharma, Francesca Brun, Anita Spezzacatene, Luisa Mestroni, Pyotr G. Platonov
Publikováno v:
BMC Cardiovascular Disorders, Vol 17, Iss 1, Pp 1-10 (2017)
Abstract Background Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) carries a risk of sudden death. We aimed to assess whether vectorcardiographic (VCG) parameters directed toward the right heart and a measured angle of the S-wave
Externí odkaz:
https://doaj.org/article/39ca4a5f0e274575bde062c017c2795e
Autor:
Rene L. Begay, BS, Charles A. Tharp, MD, August Martin, Sharon L. Graw, PhD, Gianfranco Sinagra, MD, Daniela Miani, MD, Mary E. Sweet, BA, Dobromir B. Slavov, PhD, Neil Stafford, MD, Molly J. Zeller, Rasha Alnefaie, Teisha J. Rowland, PhD, Francesca Brun, MD, Kenneth L. Jones, PhD, Katherine Gowan, Luisa Mestroni, MD, Deborah M. Garrity, PhD, Matthew R.G. Taylor, MD, PhD
Publikováno v:
JACC: Basic to Translational Science, Vol 1, Iss 5, Pp 344-359 (2016)
A genetic etiology has been identified in 30% to 40% of dilated cardiomyopathy (DCM) patients, yet only 50% of these cases are associated with a known causative gene variant. Thus, in order to understand the pathophysiology of DCM, it is necessary to
Externí odkaz:
https://doaj.org/article/234247b2b5784c6fbf2ceca86cc593b3
Autor:
Alessia Paldino, Matteo Dal Ferro, Davide Stolfo, Ilaria Gandin, Kristen Medo, Sharon Graw, Marta Gigli, Giulia Gagno, Denise Zaffalon, Matteo Castrichini, Marco Masè, Antonio Cannatà, Francesca Brun, Garrett Storm, Giovanni Maria Severini, Stefania Lenarduzzi, Giorgia Girotto, Paolo Gasparini, Francesca Bortolotti, Mauro Giacca, Serena Zacchigna, Marco Merlo, Matthew R.G. Taylor, Luisa Mestroni, Gianfranco Sinagra
Publikováno v:
Journal of the American College of Cardiology. 80(21)
Background: Diverse genetic backgrounds often lead to phenotypic heterogeneity in cardiomyopathies (CMPs). Previous genotype-phenotype studies have primarily focused on the analysis of a single phenotype, and the diagnostic and prognostic features of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d0d439b36275eb9a5979caae2b494b68
https://pubmed.ncbi.nlm.nih.gov/36396200
https://pubmed.ncbi.nlm.nih.gov/36396200
Autor:
Dobromir Slavov, William J. McKenna, Marco Merlo, Marta Gigli, Matthew R.G. Taylor, Francesca Brun, Teisha J. Rowland, Gianfranco Sinagra, Giulia Barbati, Andrea Cocciolo, Sharon L. Graw, Mary E. Haywood, Davide Stolfo, Francisco G. La Rosa, Gaetano Morea, Alessandro Altinier, Federica Ramani, Matteo Dal Ferro, Ilaria Puggia, Luisa Mestroni
Publikováno v:
Journal of the American College of Cardiology. 74:1480-1490
Background Genotype-phenotype correlations in dilated cardiomyopathy (DCM) and, in particular, the effects of gene variants on clinical outcomes remain poorly understood. Objectives The purpose of this study was to investigate the prognostic role of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::31f56884bc5647ba8a2ecdf3598a5f74
https://doi.org/10.1016/j.jacc.2019.06.072
https://doi.org/10.1016/j.jacc.2019.06.072
Autor:
Giovanni Maria Severini, Daniel P. Judge, Alessia PaldinoMD, Diane Fatkin, Chloe M. Reuter, Francesca Brun, Neal K. Lakdawala, Daniele Muser, Euan A. Ashley, J. Peter van Tintelen, Matthew R.G. Taylor, Ernesto E. Salcedo, Cynthia A. James, Arthur A.M. Wilde, Sylvia Turja, Brittney Murray, Hugh Calkins, Giulia De Angelis, D. Miani, Sharon L. Graw, Kermshlise Picard, Gianfranco Sinagra, Jean Jirikowic, William J. McKenna, Crystal Tichnell, Marta Gigli, Caterina Gregorio, Davide Stolfo, Anneline S.J.M. te Riele, Marco Merlo, Jiangping Song, Matteo Dal Ferro, Suet Nee Chen, Renee Johnson, Luisa Mestroni, Victoria N. Parikh
Publikováno v:
Circulation
Circulation, 144(20), 1600-1611. Lippincott Williams and Wilkins
Circulation, 144(20), 1600-1611. Lippincott Williams and Wilkins
Background: Filamin C truncating variants ( FLNCtv ) cause a form of arrhythmogenic cardiomyopathy: the mode of presentation, natural history, and risk stratification of FLNCtv remain incompletely explored. We aimed to develop a risk profile for refr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::02cc43039286d3cef5962f7e632ea9b5
https://www.ahajournals.org/doi/10.1161/CIRCULATIONAHA.121.053521
https://www.ahajournals.org/doi/10.1161/CIRCULATIONAHA.121.053521
Autor:
Hugh Calkins, Sharon L. Graw, Daniel P. Judge, Marta Gigli, Gianfranco Sinagra, Marco Merlo, Cynthia A. James, Luisa Mestroni, Brittney Murray, Matthew R.G. Taylor, Francesca Brun
Publikováno v:
J Med Genet
BackgroundArrhythmogenic right ventricular cardiomyopathy (ARVC) is a heart muscle disease that affects predominantly the right ventricle and is part of the spectrum of arrythmogenic cardiomyopathies (ACMs). ARVC is a genetic condition; however, a pa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aeb90c662e1bb8db253b20b2a46d8507
https://jmg.bmj.com/content/57/4/254
https://jmg.bmj.com/content/57/4/254
Autor:
Marta Gigli, Gianfranco Sinagra, T. Brett Reece, Eric P. Wartchow, Rene L. Begay, Teisha J. Rowland, Angeliki Asimaki, Jeffrey E. Saffitz, Dobromir Slavov, Matthew R.G. Taylor, Katherine Gowan, Marco Merlo, Luisa Mestroni, Kalpana M. Devaraj, Ilaria Puggia, Amrut V. Ambardekar, Sharon L. Graw, Deborah M. Garrity, Peter M. Buttrick, Mary E. Sweet, Kenneth L. Jones, Michael R. Bristow, Francesca Brun, Ernesto E. Salcedo, D. Miani
Publikováno v:
JACC. Clinical electrophysiology
Objectives The purpose of this study was to assess the phenotype of Filamin C (FLNC) truncating variants in dilated cardiomyopathy (DCM) and understand the mechanism leading to an arrhythmogenic phenotype. Background Mutations in FLNC are known to le
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::36883bb2281165de0d50bb7e5d0d84e7
http://europepmc.org/articles/PMC6074050
http://europepmc.org/articles/PMC6074050
Autor:
Bin Lin, Anneline S.J.M. te Riele, Francesca Brun, Connie R. Bezzina, Mingliang Zhang, Cynthia A. James, Xianming Lin, Daniel P. Judge, Toon A.B. van Veen, Gordon F. Tomaselli, Nara Sobreira, Luisa Mestroni, Matthew R.G. Taylor, J. Peter van Tintelen, Harikrishna Tandri, Brittney Murray, Eli Rothenberg, Esperanza Agullo-Pascual, Lei Bu, Hugh Calkins, Crystal Tichnell, Roos F. Marsman, Maarten P. van den Berg, Arthur A.M. Wilde, Richard N.W. Hauer, Dennis Dooijes, Marina Cerrone, Alejandra Leo-Macias, Steven J. Fowler, Jeroen F. van der Heijden, Mario Delmar, Nuria Amat-Alarcon, Gianfranco Sinagra
Publikováno v:
Cardiovascular research, 113(1), 102-111. Oxford University Press
Cardiovascular Research, 113(1), 102-111. Oxford University Press
Cardiovascular Research, 113(1), 102. Oxford University Press
Cardiovascular Research, 113(1), 102-111. Oxford University Press
Cardiovascular Research, 113(1), 102. Oxford University Press
Aims Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy (ARVD/C) is often associated with desmosomal mutations. Recent studies suggest an interaction between the desmosome and sodium channel protein Na(v)1.5. We aimed to determine the prevalen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::20933210759bc076b11984ceeb1942c2
https://doi.org/10.1093/cvr/cvw234
https://doi.org/10.1093/cvr/cvw234
Autor:
M Dal Ferro, Gianfranco Sinagra, L. Mestroni, S Graw, Davide Stolfo, Marta Gigli, D. Slavov, W Mc Kenna, Matthew R.G. Taylor, G. Barbati, Marco Merlo, M Sweet, Alessandro Altinier, Francesca Brun, T Rowland
Publikováno v:
European Heart Journal. 40
Background Genotype-phenotype correlations in dilated cardiomyopathy (DCM) and in particular the effects of gene variants on clinical outcomes remain poorly understood. Purpose To investigate the prognostic role of genetic variant carrier status in a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::fd7375291d52c82b44e79a5c8fbba0e7
https://doi.org/10.1093/eurheartj/ehz746.1177
https://doi.org/10.1093/eurheartj/ehz746.1177
Autor:
Enrico Fabris, Gianfranco Sinagra, Francesca Brun, Davide Stolfo, Francesco Negri, Simona Romani, Marco Merlo
Publikováno v:
Dilated Cardiomyopathy ISBN: 9783030138639
Patients with dilated cardiomyopathy (DCM) can present for the first time with typical cardiac symptoms, as heart failure, arrhythmias, and syncope, with cardiomyopathy as the main presenting feature. However, DCM may be a common feature of systemic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8e643e25be7cb4eb9f472f8f3e9d6d3b
https://doi.org/10.1007/978-3-030-13864-6_15
https://doi.org/10.1007/978-3-030-13864-6_15