BOTTA, ANNALISA

BOTTA, ANNALISA

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Pubblicazioni

Risultati 1 - 20 di 72 (tempo di esecuzione: 0.001 secondi).

Data di pubblicazioneTitoloAutore(i)TipoFile
110-feb-2018A 34-year longitudinal study on long-term cardiac outcomes in DM1 patients with normal ECG at baseline at an Italian clinical centreBucci, 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, GArticolo su rivista  Solo autorizzati
2gen-2012Aberrant splicing and expression of the non muscle myosin heavy-chain gene MYH14 in DM1 muscle tissuesRinaldi, F; Terracciano, C; Pisani, V; Massa, R; Loro, E; Vergani, L; Di Girolamo, S; Angelini, C; Gourdon, G; Novelli, G; Botta, AArticolo su rivista  Open Access
32018Activation of the interferon type I response rather than autophagy contributes to myogenesis inhibition in congenital DM1 myoblastsRizzo, M; Beffy, P; Del Carratore, R; Falleni, A; Pretini, V; D'Aurizio, R; Botta, A; Evangelista, M; Stoccoro, A; Coppede, F; Furling, D; Simili, MArticolo su rivista-
42018AFM nano-mechanical study of the beating profile of hiPSC-derived cardiomyocytes beating bodies WT and DM1Dinarelli, S; Girasole, M; Spitalieri, P; Talarico, Rv; Murdocca, M; Botta, A; Novelli, G; Mango, R; Sangiuolo, F; Longo, GArticolo su rivista-
5feb-2016An Age-standardized prevalence estimate and a sex and age distribution of myotonic dystrophy types 1 and 2 in the Rome province, ItalyVanacore, 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, RArticolo su rivista  riservati
64-giu-2013Altered 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, LArticolo su rivista  Open Access
7dic-2008Analysis 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 patientsRinaldi, F; Botta, A; Vallo, L; Contino, G; Morgante, A; Iraci, R; Catalli, C; Silvestri, G; Ventriglia, VM; Politano, L; Novelli, GArticolo su rivista-
81997Assignment of the gene for a ubiquitin fusion degradation protein (Ufd1l) to mouse chromosome 16B1-B4, syntenic with the Tuple1 geneBotta, A; Jurecic, V; Pizzuti, A; Novelli, G; Dallapiccola, B; Baldini, AArticolo su rivista-
92000Association between schizohprenia and UFD1L. A developmental gene mapped to chromosome 22De Luca, A; Pasini, A; Amati, F; Botta, A; Spalletta, G; Alimenti, S; Caccamo, F; Conti, E; Trakalo, J; Macciardi, F; Macciardi, B; Novelli, GIntervento a convegno-
102001Association study of a promoter polymorphism of UFD1L gene with schizophreniaDe Luca, A; Pasini, A; Amati, F; Botta, A; Spalletta, G; Alimenti, S; Caccamo, F; Conti, E; Trakalo, J; Macciardi, F; Dallapiccola, B; Novelli, GArticolo su rivista-
112001Causes of the phenotype-genotype dissociation in DiGeorge syndrome: Clues from mouse modelsBotta, A; Amati, F; Novelli, GArticolo su rivista-
12feb-2005Characterization of a single nucleotide polymorphism in the ZNF9 gene and analysis of association with myotonic dystrophy type II (DM2) in the Italian populationVallo, L; Bonifazi, E; Borgiani, P; Novelli, G; Botta, AArticolo su rivista-
135-set-2001Cloning 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, GArticolo su rivista-
142001Cloning and molecular characterization of three ubiquitin fusion degradation 1 (Ufd1) ortholog genes from Xenopus laevis, Gallus gallus and Drosophila melanogasterRatti, A; Amati, F; Bozzali, M; Conti, E; Sangiuolo, F; Berloco, M; Palumbo, G; Botta, A; Pizzuti, A; Novelli, G; Dallapiccola, BArticolo su rivista-
15ott-2012Co-segregation of DM2 with a recessive CLCN1 mutation in juvenile onset of myotonic dystrophy type 2Cardani, 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, GArticolo su rivista  Open Access
16dic-1997Comparative mapping of the DiGeorge syndrome region in mouse shows inconsistent gene order and differential degree of gene conservationBotta, A; Lindsay, EA; Jurecic, V; Baldini, AArticolo su rivista-
1723-set-1999Congenital heart disease in mice deficient for the DiGeorge Syndrome regionLindsay, E; Botta, A; Jurecic, V; Rivera, S; Cheah, Y; Bradley, A; Baldini, AArticolo su rivista-
18lug-2008The CTG repeat expansion size correlates with the splicing defects observed in muscles from myotonic dystrophy type 1 patientsBotta, A; Rinaldi, F; Catalli, C; Vergani, L; Bonifazi, E; Romeo, V; Loro, E; Viola, A; Angelini, C; Novelli GArticolo su rivista-
192017Cutaneous features of myotonic dystrophy types 1 and 2: implication of premature aging and vitamin d homeostasisCampione, E; Botta, A; Di Prete, M; Rastelli, E; Gibellini, M; Petrucci, A; Bernardini, S; Novelli, G; Bianchi, L; Orlandi, A; Massa, R; Terracciano, CArticolo su rivista  riservati
20giu-1999Detection of an atypical 7q11.23 deletion in Williams syndrome patients which does not include the STX1A and FZD3 genesBotta, A; Novelli, G; Mari, A; Novelli, A; Sabani, M; Korenberg, J; Osborne, LR; Digilio, MC; Giannotti, A; Dallapiccola, BArticolo su rivista-

Dettaglio

BOTTA, ANNALISA 

Dipartimento di Biomedicina e prevenzione 

 
 
 
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