Tabolacci, Elisabetta

Tabolacci, Elisabetta  

ROMA - Dipartimento di Scienze della vita e sanità pubblica  

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Data di pubblicazione Titolo Autore(i) File
1-gen-2021 Co-occurrence of fragile x syndrome with a second genetic condition: Three independent cases of double diagnosis Tabolacci, E.; Pomponi, M. G.; Remondini, L.; Pietrobono, R.; Orteschi, D.; Nobile, V.; Pucci, C.; Musto, E.; Pane, M.; Mercuri, E. M.; Neri, G.; Genuardi, M.; Chiurazzi, P.; Zollino, M.
1-gen-2021 Co-occurrence of fragile x syndrome with a second genetic condition: Three independent cases of double diagnosis Tabolacci, E.; Pomponi, M. G.; Remondini, L.; Pietrobono, R.; Orteschi, D.; Nobile, V.; Pucci, C.; Musto, E.; Pane, M.; Mercuri, E. M.; Neri, G.; Genuardi, M.; Chiurazzi, P.; Zollino, M.
1-gen-2021 Effects of remifentanil on human C20 microglial pro-inflammatory activation Cappoli, N.; Aceto, P.; Tabolacci, E.; Mezzogori, D.; Sollazzi, L.; Navarra, P.; Dello Russo, C.
1-gen-2021 Infantile Liver Failure Syndrome 1 associated with a novel variant of the LARS1 gene: Clinical, genetic, and functional characterization Tabolacci, E; Molinario, C; Marangi, G; Nobile, V; Arena, V; Mendes, Mi; Smith, Dec; Salomons, Gs; Tana, M; Costa, S; Vento, G; Genuardi, M.
1-gen-2020 Altered mitochondrial function in cells carrying a premutation or unmethylated full mutation of the FMR1 gene Nobile, V.; Palumbo, F.; Lanni, S.; Ghisio, V.; Vitali, A.; Castagnola, M.; Marzano, V.; Maulucci, G.; De Angelis, C.; De Spirito, M.; Pacini, L.; D'Andrea, L.; Ragno, R.; Stazi, G.; Valente, S.; Mai, A.; Chiurazzi, P.; Genuardi, M.; Neri, G.; Tabolacci, E.
1-gen-2020 DNA Methylation in the Diagnosis of Monogenic Diseases. Cerrato, F; Sparago, A; Ariani, F; Brugnoletti, F; Calzari, L; Coppedè, F; De Luca, A; Gervasini, C; Giardina, E; Gurrieri, F; Lo Nigro, C; Merla, G; Miozzo, M; Russo, S; Sangiorgi, E; Sirchia, Sm; Squeo, Gm; Tabano, S; Tabolacci, E; Torrente, I; Genuardi, M; Neri, G; Riccio, A.
1-gen-2020 Infantile Liver Failure Syndrome 1 associated with a novel variant of the LARS1 gene: Clinical, genetic, and functional characterization Tabolacci, E.; Molinario, C.; Marangi, G.; Nobile, V.; Arena, V.; Mendes, M. I.; Smith, D. E. C.; Salomons, G. S.; Tana, M.; Costa, S.; Vento, G.; Genuardi, M.
1-gen-2020 Reversion to Normal of FMR1 Expanded Alleles: A Rare Event in Two Independent Fragile X Syndrome Families Tabolacci, Elisabetta; Pietrobono, Roberta; Maneri, Giulia; Remondini, Laura; Nobile, Veronica; Della Monica, Matteo; Pomponi, Maria Grazia; Genuardi, Maurizio; Neri, Giovanni; Chiurazzi, Pietro
1-gen-2020 The emerging role of the BDNF-TrkB signaling pathway in the modulation of pain perception Cappoli, N.; Tabolacci, E.; Aceto, P.; Dello Russo, C.
1-gen-2020 Methylated premutation of the FMR1 gene in three sisters: correlating CGG expansion and epigenetic inactivation Tabolacci, E.; Pomponi, M. G.; Remondini, L.; Pietrobono, R.; Nobile, V.; Pennacchio, G.; Gurrieri, F.; Neri, G.; Genuardi, M.; Chiurazzi, P.
1-gen-2019 The mTOR kinase inhibitor rapamycin enhances the expression and release of pro-inflammatory cytokine interleukin 6 modulating the activation of human microglial cells. Cappoli, N; Mezzogori, D; Tabolacci, E; Coletta, I; Navarra, P; Pani, G; Dello Russo, C.
1-gen-2017 Simpson–Golabi–Behmel syndrome in a female: A case report and an unsolved issue Vaisfeld, Alessandro; Pomponi, Maria Grazia; Pietrobono, Roberta; Tabolacci, Elisabetta; Neri, Giovanni
1-gen-2016 CGG Repeat-Induced FMR1 Silencing Depends on the Expansion Size in Human iPSCs and Neurons Carrying Unmethylated Full Mutations Brykczynska, Urszula; Pecho Vrieseling, Eline; Thiemeyer, Anke; Klein, Jessica; Fruh, Isabelle; Doll, Thierry; Manneville, Carole; Fuchs, Sascha; Iazeolla, Mariavittoria; Beibel, Martin; Roma, Guglielmo; Naumann, Ulrike; Kelley, Nicholas; Oakeley, Edward J.; Mueller, Matthias; Gomez Mancilla, Baltazar; Bühler, Marc; Tabolacci, Elisabetta; Chiurazzi, Pietro; Neri, Giovanni; Bouwmeester, Tewis; Di Giorgio, Francesco Paolo; Fodor, Barna D.
1-gen-2016 Defining the role of the CGGBP1 protein in FMR1 gene expression Goracci, Martina; Lanni, Stella; Mancano, Giorgia; Palumbo, Federica; Chiurazzi, Pietro; Neri, Giovanni; Tabolacci, Elisabetta
1-gen-2016 Genome-wide methylation analysis demonstrates that 5-aza-2-deoxycytidine treatment does not cause random DNA demethylation in fragile X syndrome cells Tabolacci, Elisabetta; Mancano, Giorgia; Lanni, Stella; Palumbo, Federica; Goracci, Martina; Ferrè, Fabrizio; Helmer Citterich, Manuela; Neri, Giovanni
1-gen-2016 Transcriptional reactivation of the FMR1 Gene. A possible approach to the treatment of the fragile X syndrome Tabolacci, Elisabetta; Palumbo, Federica; Nobile, Veronica; Neri, Giovanni
1-gen-2015 Defining the role of the CGGBP1 protein in FMR1 gene expression. Tabolacci, Elisabetta; Goracci, Martina; Lanni, Stella; Mancano, Giorgia; Palumbo, Federica; Chiurazzi, Pietro; Neri, Giovanni
1-gen-2013 Epigenetic modifications of the FMR1 gene Tabolacci, Elisabetta; Neri, Giovanni
1-gen-2013 Epigenetics, fragile X syndrome and transcriptional therapy. Tabolacci, Elisabetta; Chiurazzi, Pietro
1-gen-2013 Role of CTCF protein in regulating FMR1 locus transcription. Lanni, Stella; Goracci, Martina; Borrelli, Loredana; Mancano, Giorgia; Chiurazzi, Pietro; Moscato, Umberto; Ferre', Fabrizio; Helmer_citterich, Manuela; Tabolacci, Elisabetta; Neri, Giovanni