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BOTTA, ANNALISA

BOTTA, ANNALISA  

Dipartimento di Biomedicina e Prevenzione  

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Risultati 1 - 20 di 95 (tempo di esecuzione: 0.033 secondi).
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-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
21-set-2020 Circulating long non-coding rna gas5 is overexpressed in serum from osteoporotic patients and is associated with increased risk of bone fragility Visconti, Vv; Fittipaldi, S; Ciuffi, S; Marini, F; Isaia, G; D'Amelio, P; Migliaccio, S; Marcocci, C; Minisola, S; Nuti, R; Novelli, G; Brandi, Ml; Botta, A; Tarantino, U Articolo su rivista