FRONTALI, MARINA
FRONTALI, MARINA
A shared haplotype for dentatorubropallidoluysian atrophy (DRPLA) in Italian families testifies of the recent introduction of the mutation
2014-01-09 Veneziano, L; Mantuano, E; Catalli, C; Gellera, C; Durr, A; Romano, S; Spadaro, M; Frontali, M; Novelletto, A
Candidate glutamatergic and dopaminergic pathway gene variants do not influence Huntington's disease motor onset
2013-01-01 Ramos, Em; Latourelle, Jc; Gillis, T; Mysore, Js; Squitieri, F; Di Pardo, A; Di Donato, S; Gellera, C; Hayden, Mr; Morrison, Pj; Nance, M; Ross, Ca; Margolis, Rl; Gomez-Tortosa, E; Ayuso, C; Suchowersky, O; Trent, Rj; Mccusker, E; Novelletto, A; Frontali, M; Jones, R; Ashizawa, T; Frank, S; Saint-Hilaire, M-; Hersch, Sm; Rosas, Hd; Lucente, D; Harrison, Mb; Zanko, A; Abramson, Rk; Marder, K; Gusella, Jf; Lee, J-; Alonso, I; Sequeiros, J; Myers, Rh; Macdonald, Me
Deletion of REXO1L1 locus in a patient with malabsorption syndrome, growth retardation, and dysmorphic features: A novel recognizable microdeletion syndrome?
2015-01-01 D'Apice, Mr; Novelli, A; di Masi, A; Biancolella, M; Antoccia, A; Gullotta, F; Licata, N; Minella, D; Testa, B; Nardone, A; Palmieri, G; Calabrese, E; Biancone, L; Tanzarella, C; Frontali, M; Sangiuolo, Fc; Novelli, G; Pallone, F
Esperienza di consulenza genetica e comunicazione diagnostica nelle patologie neuromuscolari
2006-01-01 Jacopini, G; Zinzi, P; Bengala, M; Salmaso, D; Novelli, G; Frontali, M
Frataxin deficiency in Friedreich’s ataxia is associated with reduced levels of HAX-1, a regulator of cardiomyocyte death and survival
2020-01-01 Tiano, F; Amati, F; Cherubini, F; Morini, E; Vancheri, C; Maletta, S; Fortuni, S; Serio, D; Quatrana, A; Luffarelli, R; Benini, M; Alfedi, G; Panarello, L; Rufini, A; Toschi, N; Frontali, M; Romano, S; Marcotulli, C; Casali, C; Gioiosa, S; Mariotti, C; Mongelli, A; Fichera, M; Condò, I; Novelli, G; Testi, R; Malisan, F
Rhabdoid tumor predisposition syndrome caused by SMARCB1 constitutional deletion: prenatal detection of new case of recurrence in siblings due to gonadal mosaicism
2016-01-01 Gigante, L; Paganini, I; Frontali, M; Ciabattoni, S; Sangiuolo, Fc; Papi, L
| Data di pubblicazione | Titolo | Autore(i) | Tipo | File |
|---|---|---|---|---|
| 9-gen-2014 | A shared haplotype for dentatorubropallidoluysian atrophy (DRPLA) in Italian families testifies of the recent introduction of the mutation | Veneziano, L; Mantuano, E; Catalli, C; Gellera, C; Durr, A; Romano, S; Spadaro, M; Frontali, M; Novelletto, A | Articolo su rivista | |
| 1-gen-2013 | Candidate glutamatergic and dopaminergic pathway gene variants do not influence Huntington's disease motor onset | Ramos, Em; Latourelle, Jc; Gillis, T; Mysore, Js; Squitieri, F; Di Pardo, A; Di Donato, S; Gellera, C; Hayden, Mr; Morrison, Pj; Nance, M; Ross, Ca; Margolis, Rl; Gomez-Tortosa, E; Ayuso, C; Suchowersky, O; Trent, Rj; Mccusker, E; Novelletto, A; Frontali, M; Jones, R; Ashizawa, T; Frank, S; Saint-Hilaire, M-; Hersch, Sm; Rosas, Hd; Lucente, D; Harrison, Mb; Zanko, A; Abramson, Rk; Marder, K; Gusella, Jf; Lee, J-; Alonso, I; Sequeiros, J; Myers, Rh; Macdonald, Me | Articolo su rivista | |
| 1-gen-2015 | Deletion of REXO1L1 locus in a patient with malabsorption syndrome, growth retardation, and dysmorphic features: A novel recognizable microdeletion syndrome? | D'Apice, Mr; Novelli, A; di Masi, A; Biancolella, M; Antoccia, A; Gullotta, F; Licata, N; Minella, D; Testa, B; Nardone, A; Palmieri, G; Calabrese, E; Biancone, L; Tanzarella, C; Frontali, M; Sangiuolo, Fc; Novelli, G; Pallone, F | Articolo su rivista | |
| 1-gen-2006 | Esperienza di consulenza genetica e comunicazione diagnostica nelle patologie neuromuscolari | Jacopini, G; Zinzi, P; Bengala, M; Salmaso, D; Novelli, G; Frontali, M | Articolo su rivista | |
| 1-gen-2020 | Frataxin deficiency in Friedreich’s ataxia is associated with reduced levels of HAX-1, a regulator of cardiomyocyte death and survival | Tiano, F; Amati, F; Cherubini, F; Morini, E; Vancheri, C; Maletta, S; Fortuni, S; Serio, D; Quatrana, A; Luffarelli, R; Benini, M; Alfedi, G; Panarello, L; Rufini, A; Toschi, N; Frontali, M; Romano, S; Marcotulli, C; Casali, C; Gioiosa, S; Mariotti, C; Mongelli, A; Fichera, M; Condò, I; Novelli, G; Testi, R; Malisan, F | Articolo su rivista | |
| 1-gen-2016 | Rhabdoid tumor predisposition syndrome caused by SMARCB1 constitutional deletion: prenatal detection of new case of recurrence in siblings due to gonadal mosaicism | Gigante, L; Paganini, I; Frontali, M; Ciabattoni, S; Sangiuolo, Fc; Papi, L | Articolo su rivista |