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Low penetrance and effect on protein secretion of LGI1 mutations causing autosomal dominant lateral temporal epilepsy.
Published in:
Epilepsia (Series 4), 2011, v. 52, n. 7, p. 1258, doi. 10.1111/j.1528-1167.2011.03071.x
By:
- Di Bonaventura, Carlo;
- Operto, Francesca F.;
- Busolin, Giorgia;
- Egeo, Gabriella;
- D'Aniello, Alfredo;
- Vitello, Libero;
- Smaniotto, Gessica;
- Furlan, Sandra;
- Diani, Erica;
- Michelucci, Roberto;
- Giallonardo, Anna Teresa;
- Coppola, Giangennaro;
- Nobile, Carlo
Publication type:
Article
Cardiomyopathy in patients with POMT1-related congenital and limb-girdle muscular dystrophy.
Published in:
European Journal of Human Genetics, 2012, v. 20, n. 12, p. 1234, doi. 10.1038/ejhg.2012.71
By:
- Bello, Luca;
- Melacini, Paola;
- Pezzani, Raffaele;
- D'Amico, Adele;
- Piva, Luisa;
- Leonardi, Emanuela;
- Torella, Annalaura;
- Soraru, Gianni;
- Palmieri, Arianna;
- Smaniotto, Gessica;
- Gavassini, Bruno F;
- Vianello, Andrea;
- Nigro, Vincenzo;
- Bertini, Enrico;
- Angelini, Corrado;
- Tosatto, Silvio C E;
- Pegoraro, Elena
Publication type:
Article
The p.A897KfsX4 frameshift variation in desmocollin-2 is not a causative mutation in arrhythmogenic right ventricular cardiomyopathy.
Published in:
European Journal of Human Genetics, 2010, v. 18, n. 7, p. 776, doi. 10.1038/ejhg.2010.19
By:
- De Bortoli, Marzia;
- Beffagna, Giorgia;
- Bauce, Barbara;
- Lorenzon, Alessandra;
- Smaniotto, Gessica;
- Rigato, Ilaria;
- Calore, Martina;
- Li Mura, Ilena E. A.;
- Basso, Cristina;
- Thiene, Gaetano;
- Lanfranchi, Gerolamo;
- Danieli, Gian Antonio;
- Nava, Andrea;
- Rampazzo, Alessandra
Publication type:
Article
Clinicopathological profiles of progressive heart failure in hypertrophic cardiomyopathy.
Published in:
European Heart Journal, 2010, v. 31, n. 17, p. 2111, doi. 10.1093/eurheartj/ehq136
By:
- Melacini, Paola;
- Basso, Cristina;
- Angelini, Annalisa;
- Calore, Chiara;
- Bobbo, Fabiana;
- Tokajuk, Barbara;
- Bellini, Nicoletta;
- Smaniotto, Gessica;
- Zucchetto, Mauro;
- Iliceto, Sabino;
- Thiene, Gaetano;
- Maron, Barry J.
Publication type:
Article

Found: 4

Low penetrance and effect on protein secretion of LGI1 mutations causing autosomal dominant lateral temporal epilepsy.

Cardiomyopathy in patients with POMT1-related congenital and limb-girdle muscular dystrophy.

The p.A897KfsX4 frameshift variation in desmocollin-2 is not a causative mutation in arrhythmogenic right ventricular cardiomyopathy.

Clinicopathological profiles of progressive heart failure in hypertrophic cardiomyopathy.