TORCHIO, MARGHERITA
TORCHIO, MARGHERITA
DIPARTIMENTO DI MEDICINA MOLECOLARE
Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death.
2013-01-01 Bezzina, C. R.; Barc, J.; Mizusawa, Y.; Remme, C. A.; Gourraud, J. B.; Simonet, F.; Verkerk, A. O.; Schwartz, Peter; Crotti, Lia; Dagradi, Federica; Guicheney, P.; Fressart, V.; Leenhardt, A.; Antzelevitch, C.; Bartkowiak, S.; Borggrefe, M.; Schimpf, R.; Schulze Bahr, E.; Zumhagen, S.; Behr, E. R.; Bastiaenen, R.; Tfelt Hansen, J.; Olesen, M. S.; Kääb, S.; Beckmann, B. M.; Weeke, P.; Watanabe, H.; Endo, N.; Minamino, T.; Horie, M.; Ohno, S.; Hasegawa, K.; Makita, N.; Nogami, A.; Shimizu, W.; Aiba, T.; Froguel, P.; Balkau, B.; Lantieri, O.; Torchio, Margherita; Wiese, C.; Weber, D.; Wolswinkel, R.; Coronel, R.; Boukens, B. J.; Bézieau, S.; Charpentier, E.; Chatel, S.; Despres, A.; Gros, F.; Kyndt, F.; Lecointe, S.; Lindenbaum, P.; Portero, V.; Violleau, J.; Gessler, M.; Tan, H. L.; Roden, D. M.; Christoffels, V. M.; Le Marec, H.; Wilde, A. A.; Probst, V.; Schott, J. J.; Dina, C.; Redon, R.
FGF12 is a candidate Brugada syndrome locus.
2013-01-01 Hennessey, J. A.; Marcou, C. A.; Wang, C.; Wei, E. Q.; Wang, C.; Tester, D. J.; Torchio, Margherita; Dagradi, Federica; Crotti, Lia; Schwartz, Peter; Ackerman, M. J.; Pitt, G. S.
Role of common and rare variants in SCN10A: results from the Brugada syndrome QRS locus gene discovery collaborative study
2015-01-01 Behr, Elijah R; Savio Galimberti, Eleonora; Barc, Julien; Holst, Anders G; Petropoulou, Evmorfia; Prins, Bram P; Jabbari, Javad; Torchio, Margherita; Berthet, Myriam; Mizusawa, Yuka; Yang, Tao; Nannenberg, Eline A; Dagradi, Federica; Weeke, Peter; Bastiaenan, Rachel; Ackerman, Michael J; Haunso, Stig; Leenhardt, Antoine; Kääb, Stefan; Probst, Vincent; Redon, Richard; Sharma, Sanjay; Wilde, Arthur; Tfelt Hansen, Jacob; Schwartz, Peter; Roden, Dan M; Bezzina, Connie R; Olesen, Morten; Darbar, Dawood; Guicheney, Pascale; Crotti, Lia; Jamshidi, Yalda
Spectrum and prevalence of mutations involving BrS1-12 susceptibility genes in a cohort of unrelated patients referred for Brugada Syndrome genetic testing: implications for genetic testing.
2012-01-01 Crotti, Lia; Marcou, Ca; Tester, Dj; Castelletti, Silvia; Giudicessi, Jr; Torchio, Margherita; Medeiros Domingo, A; Savastano, Simone; Will, Ml; Dagradi, Federica; Schwartz, Peter; Ackerman, M. J.
Therapeutic Efficacy of Mexiletine for Long QT Syndrome Type 2: Evidence From Human Induced Pluripotent Stem Cell–Derived Cardiomyocytes, Transgenic Rabbits, and Patients
2024-01-01 Crotti, Lia; Neves, Raquel; Dagradi, Federica; Musu, Giulia; Giannetti, Federica; Bos, J. Martijn; Barbieri, Miriam; Cerea, Paolo; Giovenzana, Fulvio L. F.; Torchio, Margherita; Mura, Manuela; Gnecchi, Massimiliano; Conte, Giulio; Auricchio, Angelo; Sala, Luca; Odening, Katja E.; Ackerman, Michael J.; Schwartz, Peter J.
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death. | 1-gen-2013 | Bezzina, C. R.; Barc, J.; Mizusawa, Y.; Remme, C. A.; Gourraud, J. B.; Simonet, F.; Verkerk, A. O.; Schwartz, Peter; Crotti, Lia; Dagradi, Federica; Guicheney, P.; Fressart, V.; Leenhardt, A.; Antzelevitch, C.; Bartkowiak, S.; Borggrefe, M.; Schimpf, R.; Schulze Bahr, E.; Zumhagen, S.; Behr, E. R.; Bastiaenen, R.; Tfelt Hansen, J.; Olesen, M. S.; Kääb, S.; Beckmann, B. M.; Weeke, P.; Watanabe, H.; Endo, N.; Minamino, T.; Horie, M.; Ohno, S.; Hasegawa, K.; Makita, N.; Nogami, A.; Shimizu, W.; Aiba, T.; Froguel, P.; Balkau, B.; Lantieri, O.; Torchio, Margherita; Wiese, C.; Weber, D.; Wolswinkel, R.; Coronel, R.; Boukens, B. J.; Bézieau, S.; Charpentier, E.; Chatel, S.; Despres, A.; Gros, F.; Kyndt, F.; Lecointe, S.; Lindenbaum, P.; Portero, V.; Violleau, J.; Gessler, M.; Tan, H. L.; Roden, D. M.; Christoffels, V. M.; Le Marec, H.; Wilde, A. A.; Probst, V.; Schott, J. J.; Dina, C.; Redon, R. | |
| FGF12 is a candidate Brugada syndrome locus. | 1-gen-2013 | Hennessey, J. A.; Marcou, C. A.; Wang, C.; Wei, E. Q.; Wang, C.; Tester, D. J.; Torchio, Margherita; Dagradi, Federica; Crotti, Lia; Schwartz, Peter; Ackerman, M. J.; Pitt, G. S. | |
| Role of common and rare variants in SCN10A: results from the Brugada syndrome QRS locus gene discovery collaborative study | 1-gen-2015 | Behr, Elijah R; Savio Galimberti, Eleonora; Barc, Julien; Holst, Anders G; Petropoulou, Evmorfia; Prins, Bram P; Jabbari, Javad; Torchio, Margherita; Berthet, Myriam; Mizusawa, Yuka; Yang, Tao; Nannenberg, Eline A; Dagradi, Federica; Weeke, Peter; Bastiaenan, Rachel; Ackerman, Michael J; Haunso, Stig; Leenhardt, Antoine; Kääb, Stefan; Probst, Vincent; Redon, Richard; Sharma, Sanjay; Wilde, Arthur; Tfelt Hansen, Jacob; Schwartz, Peter; Roden, Dan M; Bezzina, Connie R; Olesen, Morten; Darbar, Dawood; Guicheney, Pascale; Crotti, Lia; Jamshidi, Yalda | |
| Spectrum and prevalence of mutations involving BrS1-12 susceptibility genes in a cohort of unrelated patients referred for Brugada Syndrome genetic testing: implications for genetic testing. | 1-gen-2012 | Crotti, Lia; Marcou, Ca; Tester, Dj; Castelletti, Silvia; Giudicessi, Jr; Torchio, Margherita; Medeiros Domingo, A; Savastano, Simone; Will, Ml; Dagradi, Federica; Schwartz, Peter; Ackerman, M. J. | |
| Therapeutic Efficacy of Mexiletine for Long QT Syndrome Type 2: Evidence From Human Induced Pluripotent Stem Cell–Derived Cardiomyocytes, Transgenic Rabbits, and Patients | 1-gen-2024 | Crotti, Lia; Neves, Raquel; Dagradi, Federica; Musu, Giulia; Giannetti, Federica; Bos, J. Martijn; Barbieri, Miriam; Cerea, Paolo; Giovenzana, Fulvio L. F.; Torchio, Margherita; Mura, Manuela; Gnecchi, Massimiliano; Conte, Giulio; Auricchio, Angelo; Sala, Luca; Odening, Katja E.; Ackerman, Michael J.; Schwartz, Peter J. |