BOTTA, ANNALISA
BOTTA, ANNALISA
Dipartimento di Biomedicina e Prevenzione
A 14-Year Italian Experience in DM2 Genetic Testing: Frequency and Distribution of Normal and Premutated CNBP Alleles
2021-06-01 Botta, A; Visconti, Vv; Fontana, L; Bisceglia, P; Bengala, M; Massa, R; Bagni, I; Cardani, R; Sangiuolo, F; Meola, G; Antonini, G; Petrucci, A; Pegoraro, E; D'Apice, Mr; Novelli, G
A 34-year longitudinal study on long-term cardiac outcomes in DM1 patients with normal ECG at baseline at an Italian clinical centre
2018-02-10 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
A long PCR-based molecular protocol for detecting normal and expanded ZNF9 alleles in myotonic dystrophy type 2
2004-01-01 Bonifazi, E; Vallo, L; Giardina, E; Botta, A; Novelli, G
A pilot study of lncRNAs expression profile in serum of progressive multiple sclerosis patients
2020-01-01 Santoro, M; Nociti, V; Lucchini, M; Loiodice, M; Centofanti, F; Botta, A; Losavio, Fa; De Fino, C; Mirabella, M
Aberrant splicing and expression of the non muscle myosin heavy-chain gene MYH14 in DM1 muscle tissues
2012-01-01 Rinaldi, F; Terracciano, C; Pisani, V; Massa, R; Loro, E; Vergani, L; DI GIROLAMO, S; Angelini, C; Gourdon, G; Novelli, G; Botta, A
Activation of the interferon type I response rather than autophagy contributes to myogenesis inhibition in congenital DM1 myoblasts
2018-01-01 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
AFM nano-mechanical study of the beating profile of hiPSC-derived cardiomyocytes beating bodies WT and DM1
2018-01-01 Dinarelli, S; Girasole, M; Spitalieri, P; Talarico, Rv; Murdocca, M; Botta, A; Novelli, G; Mango, R; Sangiuolo, F; Longo, G
Altered Ca2+ homeostasis and endoplasmic reticulum stress in myotonic dystrophy type 1 muscle cells.
2013-06-04 Botta, A; Malena, A; Loro, E; Del Moro, G; Suman, M; Pantic, B; Szabadkai, G; Vergani, L
An Age-standardized prevalence estimate and a sex and age distribution of myotonic dystrophy types 1 and 2 in the Rome province, Italy
2016-02-01 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
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
2008-12-01 Rinaldi, F; Botta, A; Vallo, L; Contino, G; Morgante, A; Iraci, R; Catalli, C; Silvestri, G; Ventriglia, V; Politano, L; Novelli, G
Assignment of the gene for a ubiquitin fusion degradation protein (Ufd1l) to mouse chromosome 16B1-B4, syntenic with the Tuple1 gene
1997-01-01 Botta, A; Jurecic, V; Pizzuti, A; Novelli, G; Dallapiccola, B; Baldini, A
Association Between DRD2 and DRD4 Polymorphisms and Eating Disorders in an Italian Population
2022-01-01 Ceccarini, Mr; Fittipaldi, S; Ciccacci, C; Granese, E; Centofanti, F; Dalla Ragione, L; Bertelli, M; Beccari, T; Botta, A
Association between schizohprenia and UFD1L. A developmental gene mapped to chromosome 22
2000-01-01 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
Association study of a promoter polymorphism of UFD1L gene with schizophrenia
2001-01-01 De Luca, A; Pasini, A; Amati, F; Botta, A; Spalletta, G; Alimenti, S; Caccamo, F; Conti, E; Trakalo, J; Macciardi, F; DALLA PICCOLA, B; Novelli, G
Carrier frequency of CFTR variants in the non-Caucasian populations by genome aggregation database (gnomAD)-based analysis
2020-01-01 Nappo, S; Mannucci, L; Novelli, G; Sangiuolo, F; D'Apice, M; Botta, A
Causes of the phenotype-genotype dissociation in DiGeorge syndrome: Clues from mouse models
2001-01-01 Botta, A; Amati, F; Novelli, G
Cellular Senescence: The Driving Force of Musculoskeletal Diseases
2024-01-01 Falvino, A; Gasperini, B; Cariati, I; Bonanni, R; Chiavoghilefu, A; Gasbarra, E; Botta, A; Tancredi, V; Tarantino, U
Characterization of a single nucleotide polymorphism in the ZNF9 gene and analysis of association with myotonic dystrophy type II (DM2) in the Italian population
2005-02-01 Vallo, L; Bonifazi, E; Borgiani, P; Novelli, G; Botta, A
Characterization of FMR1 Repeat Expansion and Intragenic Variants by Indirect Sequence Capture
2021-09-01 Grosso, V; Marcolungo, L; Maestri, S; Alfano, M; Lavezzari, D; Iadarola, B; Salviati, A; Mariotti, B; Botta, A; D'Apice, Mr; Novelli, G; Delledonne, M; Rossato, M
Characterization of full-length CNBP expanded alleles in myotonic dystrophy type 2 patients by Cas9-mediated enrichment and nanopore sequencing
2022-08-26 Alfano, M; De Antoni, L; Centofanti, F; Visconti, Vv; Maestri, S; Degli Esposti, C; Massa, R; D'Apice, Mr; Novelli, G; Delledonne, M; Botta, A; Rossato, M
| Data di pubblicazione | Titolo | Autore(i) | Tipo | File |
|---|---|---|---|---|
| 1-giu-2021 | A 14-Year Italian Experience in DM2 Genetic Testing: Frequency and Distribution of Normal and Premutated CNBP Alleles | Botta, A; Visconti, Vv; Fontana, L; Bisceglia, P; Bengala, M; Massa, R; Bagni, I; Cardani, R; Sangiuolo, F; Meola, G; Antonini, G; Petrucci, A; Pegoraro, E; D'Apice, Mr; Novelli, G | Articolo su rivista | |
| 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 | |
| 1-gen-2004 | A long PCR-based molecular protocol for detecting normal and expanded ZNF9 alleles in myotonic dystrophy type 2 | Bonifazi, E; Vallo, L; Giardina, E; Botta, A; Novelli, G | Articolo su rivista | |
| 1-gen-2020 | A pilot study of lncRNAs expression profile in serum of progressive multiple sclerosis patients | Santoro, M; Nociti, V; Lucchini, M; Loiodice, M; Centofanti, F; Botta, A; Losavio, Fa; De Fino, C; Mirabella, M | Articolo su rivista | |
| 1-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 | |
| 1-gen-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 | |
| 1-gen-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 | |
| 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 | |
| 1-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 | |
| 1-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, V; Politano, L; Novelli, G | Articolo su rivista | |
| 1-gen-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 | |
| 1-gen-2022 | Association Between DRD2 and DRD4 Polymorphisms and Eating Disorders in an Italian Population | Ceccarini, Mr; Fittipaldi, S; Ciccacci, C; Granese, E; Centofanti, F; Dalla Ragione, L; Bertelli, M; Beccari, T; Botta, A | Articolo su rivista | |
| 1-gen-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 | |
| 1-gen-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; DALLA PICCOLA, B; Novelli, G | Articolo su rivista | |
| 1-gen-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 | |
| 1-gen-2001 | Causes of the phenotype-genotype dissociation in DiGeorge syndrome: Clues from mouse models | Botta, A; Amati, F; Novelli, G | Articolo su rivista | |
| 1-gen-2024 | Cellular Senescence: The Driving Force of Musculoskeletal Diseases | Falvino, A; Gasperini, B; Cariati, I; Bonanni, R; Chiavoghilefu, A; Gasbarra, E; Botta, A; Tancredi, V; Tarantino, U | Articolo su rivista | |
| 1-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 | |
| 1-set-2021 | Characterization of FMR1 Repeat Expansion and Intragenic Variants by Indirect Sequence Capture | Grosso, V; Marcolungo, L; Maestri, S; Alfano, M; Lavezzari, D; Iadarola, B; Salviati, A; Mariotti, B; Botta, A; D'Apice, Mr; Novelli, G; Delledonne, M; Rossato, M | Articolo su rivista | |
| 26-ago-2022 | Characterization of full-length CNBP expanded alleles in myotonic dystrophy type 2 patients by Cas9-mediated enrichment and nanopore sequencing | Alfano, M; De Antoni, L; Centofanti, F; Visconti, Vv; Maestri, S; Degli Esposti, C; Massa, R; D'Apice, Mr; Novelli, G; Delledonne, M; Botta, A; Rossato, M | Articolo su rivista |