Sfoglia per Autore
Defining the role of the CGGBP1 protein in FMR1 gene expression
2016 Goracci, Martina; Lanni, Stella; Mancano, Giorgia; Palumbo, Federica; Chiurazzi, Pietro; Neri, Giovanni; Tabolacci, Elisabetta
CGG Repeat-Induced FMR1 Silencing Depends on the Expansion Size in Human iPSCs and Neurons Carrying Unmethylated Full Mutations
2016 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.
Transcriptional reactivation of the FMR1 Gene. A possible approach to the treatment of the fragile X syndrome
2016 Tabolacci, Elisabetta; Palumbo, Federica; Nobile, Veronica; Neri, Giovanni
Role of CTCF protein in regulating FMR1 locus transcription.
2013 Lanni, Stella; Goracci, Martina; Borrelli, Loredana; Mancano, Giorgia; Chiurazzi, Pietro; Moscato, Umberto; Ferre', Fabrizio; Helmer_citterich, Manuela; Tabolacci, Elisabetta; Neri, Giovanni
Epigenetic modifications of the FMR1 gene
2013 Tabolacci, Elisabetta; Neri, Giovanni
Epigenetics, fragile X syndrome and transcriptional therapy.
2013 Tabolacci, Elisabetta; Chiurazzi, Pietro
The mGluR5 antagonist AFQ056 does not affect methylation and transcription of the mutant FMR1 gene in vitro.
2012 Tabolacci, Elisabetta; Pirozzi, Filomena; Gomez Mancilla, B; Gasparini, Federica; Neri, Giovanni
The FRAXopathies: Definition, overview, and update
2011 Neri, Giovanni; Pirozzi, Filomena; Tabolacci, Elisabetta
No Correlation between X Chromosome Inactivation Pattern and Autistic Spectrum Disorders in an Italian Cohort of Patients
2011 Cannelli, Natalia; Tabolacci, Elisabetta; Rendeli, Claudia; Neri, Giovanni; Gurrieri, Fiorella
Insertion of 16 amino acids in the BAR domain of the oligophrenin 1 protein causes mental retardation and cerebellar hypoplasia in an Italian family
2011 Pirozzi, Filomena; Di Raimo, Francesca Romana; Zanni, G; Bertini, E; Billuart, P; Tartaglione, Tommaso; Tabolacci, Elisabetta; Brancaccio, Andrea; Neri, Giovanni; Chiurazzi, Pietro
Treatment with Valproic acid ameiorates ADHD symptoms in Fragile X syndrome boys.
2010 Neri, Giovanni; Torrioli, Maria Giulia; Vernacotola, Silvia; Setini, C.; Bevilacqua, F.; Martinelli, D.; Snape, M.; Hutchison, J. A; Di Raimo, Francesca Romana; Tabolacci, Elisabetta
Tumorigenic potential of olfactory bulb-derived human adult neural stem cells associates with activation of TERT and NOTCH1.
2009 Tabolacci, Elisabetta; Casalbore, Patrizia; Budoni, Manuela; Ricci Vitiani, Lucia; Cenciarelli, Carlo; Petrucci, Giovanna; Milazzo, Luisa; Montano, Nicola; Maira, Giulio; Larocca, Luigi Maria; Pallini, Roberto
Epigenetic analysis reveals a euchromatic configuration in the FMR1 unmethylated full mutations.
2008 Tabolacci, Elisabetta; Moscato, Umberto; Zalfa, F; Bagni, C; Chiurazzi, Pietro; Neri, Giovanni
A unique case of reversion to normal size of a maternal premutation FMR1 allele in a normal boy
2008 Tabolacci, Elisabetta; Pomponi, Maria Grazia; Pietrobono, Roberta; Chiurazzi, Pietro; Neri, Giovanni
Modest reactivation of the mutatnt FMR1 gene by valproic acid is accompanied by histone modifications but not DNA demethylation.
2008 Tabolacci, Elisabetta; De Pascalis, Ivana; Accadia, Maria; Terracciano, Alessandra; Moscato, Umberto; Chiurazzi, Pietro; Neri, Giovanni
A double-blind, parallel, multicenter comparison of L-acetylcarnitine with placebo on the attention deficit hyperactivity disorder in fragile X syndrome boys
2008 Torrioli, Maria Giulia; Vernacotola, Silvia; Peruzzi, Laura; Tabolacci, Elisabetta; Mila, M; Militerni, R; Musumeci, Sebastiano; Ramos, Fj; Frontera, M; Sorge, G; Marzullo, E; Romeo, G; Vallee, L; Veneselli, E; Cocchi, E; Garbarino, E; Moscato, Umberto; Chiurazzi, Pietro; D'Iddio, Silvia; Calvani, Menotti; Neri, Giovanni
Prevalence of spinocellulart ataxia type 2 mutation among ittalian Parkinsonian patients
2007 Modoni, Antonio; Contarino, Maria Fiorella; Bentivoglio, Anna Rita; Tabolacci, Elisabetta; Santoro, Marco; Calcagni, Maria Lucia; Tonali, Pietro Attilio; Neri, Giovanni; Silvestri, Gabriella
MID1 mutation screening in a large cohort of Opitz G/BBB syndrome patients: twenty-nine novel mutations identified
2007 Ferrentino, Rosa; Teresa Bassi, Maria; Chitayat, David; Tabolacci, Elisabetta; Meroni, Germana
A new function for the fragile X mental retardation protein in regulation of PSD-95 mRNA stability
2007 Zalfa, Francesca; Eleuteri, Boris; S Dickson, Kirsten; Mercaldo, Valentina; De Rubeis, Silvia; di Penta, Alessandra; Tabolacci, Elisabetta; Chiurazzi, Pietro; Neri, Giovanni; N Grant, Seth G; Bagni, Claudia
A truncating mutation in the IL1RAPL1 gene is responsible for X-linked mental retardation in the MRX21 family
2006 Tabolacci, Elisabetta; Grazia Pomponi, M; Pietrobono, Roberta; Terracciano, Alessandra; Chiurazzi, Pietro; Neri, Giovanni
Data di pubblicazione | Titolo | Autore(i) | File |
---|---|---|---|
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 | 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 | 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-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 | |
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-2012 | The mGluR5 antagonist AFQ056 does not affect methylation and transcription of the mutant FMR1 gene in vitro. | Tabolacci, Elisabetta; Pirozzi, Filomena; Gomez Mancilla, B; Gasparini, Federica; Neri, Giovanni | |
1-gen-2011 | The FRAXopathies: Definition, overview, and update | Neri, Giovanni; Pirozzi, Filomena; Tabolacci, Elisabetta | |
1-gen-2011 | No Correlation between X Chromosome Inactivation Pattern and Autistic Spectrum Disorders in an Italian Cohort of Patients | Cannelli, Natalia; Tabolacci, Elisabetta; Rendeli, Claudia; Neri, Giovanni; Gurrieri, Fiorella | |
1-gen-2011 | Insertion of 16 amino acids in the BAR domain of the oligophrenin 1 protein causes mental retardation and cerebellar hypoplasia in an Italian family | Pirozzi, Filomena; Di Raimo, Francesca Romana; Zanni, G; Bertini, E; Billuart, P; Tartaglione, Tommaso; Tabolacci, Elisabetta; Brancaccio, Andrea; Neri, Giovanni; Chiurazzi, Pietro | |
1-gen-2010 | Treatment with Valproic acid ameiorates ADHD symptoms in Fragile X syndrome boys. | Neri, Giovanni; Torrioli, Maria Giulia; Vernacotola, Silvia; Setini, C.; Bevilacqua, F.; Martinelli, D.; Snape, M.; Hutchison, J. A; Di Raimo, Francesca Romana; Tabolacci, Elisabetta | |
1-gen-2009 | Tumorigenic potential of olfactory bulb-derived human adult neural stem cells associates with activation of TERT and NOTCH1. | Tabolacci, Elisabetta; Casalbore, Patrizia; Budoni, Manuela; Ricci Vitiani, Lucia; Cenciarelli, Carlo; Petrucci, Giovanna; Milazzo, Luisa; Montano, Nicola; Maira, Giulio; Larocca, Luigi Maria; Pallini, Roberto | |
1-gen-2008 | Epigenetic analysis reveals a euchromatic configuration in the FMR1 unmethylated full mutations. | Tabolacci, Elisabetta; Moscato, Umberto; Zalfa, F; Bagni, C; Chiurazzi, Pietro; Neri, Giovanni | |
1-gen-2008 | A unique case of reversion to normal size of a maternal premutation FMR1 allele in a normal boy | Tabolacci, Elisabetta; Pomponi, Maria Grazia; Pietrobono, Roberta; Chiurazzi, Pietro; Neri, Giovanni | |
1-gen-2008 | Modest reactivation of the mutatnt FMR1 gene by valproic acid is accompanied by histone modifications but not DNA demethylation. | Tabolacci, Elisabetta; De Pascalis, Ivana; Accadia, Maria; Terracciano, Alessandra; Moscato, Umberto; Chiurazzi, Pietro; Neri, Giovanni | |
1-gen-2008 | A double-blind, parallel, multicenter comparison of L-acetylcarnitine with placebo on the attention deficit hyperactivity disorder in fragile X syndrome boys | Torrioli, Maria Giulia; Vernacotola, Silvia; Peruzzi, Laura; Tabolacci, Elisabetta; Mila, M; Militerni, R; Musumeci, Sebastiano; Ramos, Fj; Frontera, M; Sorge, G; Marzullo, E; Romeo, G; Vallee, L; Veneselli, E; Cocchi, E; Garbarino, E; Moscato, Umberto; Chiurazzi, Pietro; D'Iddio, Silvia; Calvani, Menotti; Neri, Giovanni | |
1-gen-2007 | Prevalence of spinocellulart ataxia type 2 mutation among ittalian Parkinsonian patients | Modoni, Antonio; Contarino, Maria Fiorella; Bentivoglio, Anna Rita; Tabolacci, Elisabetta; Santoro, Marco; Calcagni, Maria Lucia; Tonali, Pietro Attilio; Neri, Giovanni; Silvestri, Gabriella | |
1-gen-2007 | MID1 mutation screening in a large cohort of Opitz G/BBB syndrome patients: twenty-nine novel mutations identified | Ferrentino, Rosa; Teresa Bassi, Maria; Chitayat, David; Tabolacci, Elisabetta; Meroni, Germana | |
1-gen-2007 | A new function for the fragile X mental retardation protein in regulation of PSD-95 mRNA stability | Zalfa, Francesca; Eleuteri, Boris; S Dickson, Kirsten; Mercaldo, Valentina; De Rubeis, Silvia; di Penta, Alessandra; Tabolacci, Elisabetta; Chiurazzi, Pietro; Neri, Giovanni; N Grant, Seth G; Bagni, Claudia | |
1-gen-2006 | A truncating mutation in the IL1RAPL1 gene is responsible for X-linked mental retardation in the MRX21 family | Tabolacci, Elisabetta; Grazia Pomponi, M; Pietrobono, Roberta; Terracciano, Alessandra; Chiurazzi, Pietro; Neri, Giovanni |
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