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ItalianoBOTTA, ANNALISA
Dettaglio
BOTTA, ANNALISA
Dipartimento di Biomedicina e prevenzione
Pubblicazioni
Risultati 1 - 20 di 83 (tempo di esecuzione: 0.001 secondi).
| Data di pubblicazione | Titolo | Autore(i) | Tipo | File | |
|---|---|---|---|---|---|
| 1 | 10-feb-2018 | A 34-year longitudinal study on long-term cardiac outcomes in DM1 patients with normal ECG at baseline at an Italian clinical centre | Bucci, E; Testa, M; Licchelli, L; Frattari, A; El Halabieh, Na; Gabriele, E; Pignatelli, G; de Santis, T; Fionda, L; Vanoli, F; Morino, S; Garibaldi, M; Di Pasquale, A; Vanacore, N; Botta, A; Antonini, G | Articolo su rivista | Solo autorizzati |
| 2 | gen-2012 | Aberrant splicing and expression of the non muscle myosin heavy-chain gene MYH14 in DM1 muscle tissues | Rinaldi, F; Terracciano, C; Pisani, V; Massa, R; Loro, E; Vergani, L; Di Girolamo, S; Angelini, C; Gourdon, G; Novelli, G; Botta, A | Articolo su rivista | riservati |
| 3 | 2018 | Activation of the interferon type I response rather than autophagy contributes to myogenesis inhibition in congenital DM1 myoblasts | Rizzo, M; Beffy, P; Del Carratore, R; Falleni, A; Pretini, V; D'Aurizio, R; Botta, A; Evangelista, M; Stoccoro, A; Coppede, F; Furling, D; Simili, M | Articolo su rivista | Open Access |
| 4 | 2018 | AFM nano-mechanical study of the beating profile of hiPSC-derived cardiomyocytes beating bodies WT and DM1 | Dinarelli, S; Girasole, M; Spitalieri, P; Talarico, Rv; Murdocca, M; Botta, A; Novelli, G; Mango, R; Sangiuolo, F; Longo, G | Articolo su rivista | - |
| 5 | feb-2016 | An Age-standardized prevalence estimate and a sex and age distribution of myotonic dystrophy types 1 and 2 in the Rome province, Italy | Vanacore, N; Rastelli, E; Antonini, G; Bianchi, M; Botta, A; Bucci, E; Casali, C; Costanzi Porrini, S; Giacanelli, M; Gibellini, M; Modoni, A; Novelli, G; Pennisi, E; Petrucci, A; Piantadosi, C; Silvestri, G; Terracciano, C; Massa, R | Articolo su rivista | riservati |
| 6 | 4-giu-2013 | Altered Ca2+ homeostasis and endoplasmic reticulum stress in myotonic dystrophy type 1 muscle cells. | Botta, A; Malena, A; Loro, E; Del Moro, G; Suman, M; Pantic, B; Szabadkai, G; Vergani, L | Articolo su rivista | Open Access |
| 7 | dic-2008 | Analysis of Single Nucleotide Polymorphisms (SNPs) of the small-conductance calcium activated potassium channel (SK3) gene as genetic modifier of the cardiac phenotype in myotonic dystrophy type 1 patients | Rinaldi, F; Botta, A; Vallo, L; Contino, G; Morgante, A; Iraci, R; Catalli, C; Silvestri, G; Ventriglia, VM; Politano, L; Novelli, G | Articolo su rivista | - |
| 8 | 1997 | Assignment of the gene for a ubiquitin fusion degradation protein (Ufd1l) to mouse chromosome 16B1-B4, syntenic with the Tuple1 gene | Botta, A; Jurecic, V; Pizzuti, A; Novelli, G; Dallapiccola, B; Baldini, A | Articolo su rivista | - |
| 9 | 2000 | Association between schizohprenia and UFD1L. A developmental gene mapped to chromosome 22 | De Luca, A; Pasini, A; Amati, F; Botta, A; Spalletta, G; Alimenti, S; Caccamo, F; Conti, E; Trakalo, J; Macciardi, F; Macciardi, B; Novelli, G | Intervento a convegno | - |
| 10 | 2001 | Association study of a promoter polymorphism of UFD1L gene with schizophrenia | De Luca, A; Pasini, A; Amati, F; Botta, A; Spalletta, G; Alimenti, S; Caccamo, F; Conti, E; Trakalo, J; Macciardi, F; Dallapiccola, B; Novelli, G | Articolo su rivista | - |
| 11 | 2020 | Carrier frequency of CFTR variants in the non-Caucasian populations by genome aggregation database (gnomAD)-based analysis | Nappo, S; Mannucci, L; Novelli, G; Sangiuolo, F; D'Apice, M; Botta, A | Articolo su rivista | - |
| 12 | 2001 | Causes of the phenotype-genotype dissociation in DiGeorge syndrome: Clues from mouse models | Botta, A; Amati, F; Novelli, G | Articolo su rivista | - |
| 13 | feb-2005 | Characterization of a single nucleotide polymorphism in the ZNF9 gene and analysis of association with myotonic dystrophy type II (DM2) in the Italian population | Vallo, L; Bonifazi, E; Borgiani, P; Novelli, G; Botta, A | Articolo su rivista | - |
| 14 | 5-set-2001 | Cloning and characterization of the gene encoding human NPL4, a protein interacting with the ubiquitin fusion-degradation protein (UFD1L) | Botta, A; Tandoi, C; Fini, G; Calabrese, G; Dallapiccola, B; Novelli, G | Articolo su rivista | - |
| 15 | 2001 | Cloning and molecular characterization of three ubiquitin fusion degradation 1 (Ufd1) ortholog genes from Xenopus laevis, Gallus gallus and Drosophila melanogaster | Ratti, A; Amati, F; Bozzali, M; Conti, E; Sangiuolo, F; Berloco, M; Palumbo, G; Botta, A; Pizzuti, A; Novelli, G; Dallapiccola, B | Articolo su rivista | - |
| 16 | ott-2012 | Co-segregation of DM2 with a recessive CLCN1 mutation in juvenile onset of myotonic dystrophy type 2 | Cardani, R; Giagnacovo, M; Botta, A; Rinaldi, F; Morgante, A; Udd, B; Raheem, O; Penttilä, S; Suominen, T; Renna, L; Sansone, V; Bugiardini, E; Novelli, G; Meola, G | Articolo su rivista | Open Access |
| 17 | dic-1997 | Comparative mapping of the DiGeorge syndrome region in mouse shows inconsistent gene order and differential degree of gene conservation | Botta, A; Lindsay, EA; Jurecic, V; Baldini, A | Articolo su rivista | - |
| 18 | 23-set-1999 | Congenital heart disease in mice deficient for the DiGeorge Syndrome region | Lindsay, E; Botta, A; Jurecic, V; Rivera, S; Cheah, Y; Bradley, A; Baldini, A | Articolo su rivista | - |
| 19 | lug-2008 | The CTG repeat expansion size correlates with the splicing defects observed in muscles from myotonic dystrophy type 1 patients | Botta, A; Rinaldi, F; Catalli, C; Vergani, L; Bonifazi, E; Romeo, V; Loro, E; Viola, A; Angelini, C; Novelli G | Articolo su rivista | - |
| 20 | 2020 | Cutaneous and metabolic defects associated with nuclear abnormalities in a transgenic mouse model expressing R527H lamin A mutation causing mandibuloacral dysplasia type A (MADA) syndrome | D'Apice, MR; De Dominicis, A; Murdocca, M; Amati, F; Botta, A; Sangiuolo, F; Lattanzi, G; Federici, M; Novelli, G | Articolo su rivista | Open Access |
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