Nobile, Veronica
Nobile, Veronica
Age-Dependent Dysregulation of APP in Neuronal and Skin Cells from Fragile X Individuals
2023 Cencelli, G; Pacini, L; De Luca, A; Messia, I; Gentile, A; Kang, Y; Nobile, Veronica; Tabolacci, Elisabetta; Jin, P; Farace, Mg; Bagni, C.
Mechanisms of the FMR1 Repeat Instability: How Does the CGG Sequence Expand?
2022 Tabolacci, Elisabetta; Nobile, Veronica; Pucci, Cecilia; Chiurazzi, Pietro
Mother and Daughter Carrying of the Same Pathogenic Variant in FGFR2 with Discordant Phenotype
2022 Lo Vecchio, F.; Tabolacci, E.; Nobile, V.; Pomponi, M. G.; Pietrobono, R.; Neri, G.; Amenta, S.; Candida, E.; Grippaudo, C.; Lo Cascio, E.; Vita, A.; Tiberio, F.; Arcovito, A.; Lattanzi, W.; Genuardi, M.; Chiurazzi, P.
Co-occurrence of fragile x syndrome with a second genetic condition: Three independent cases of double diagnosis
2021 Tabolacci, Elisabetta; Pomponi, M. G.; Remondini, L.; Pietrobono, R.; Orteschi, D.; Nobile, Veronica; Pucci, Cecilia; Musto, Elisa; Pane, Marika; Mercuri, Eugenio Maria; Neri, G.; Genuardi, Maurizio; Chiurazzi, Pietro; Zollino, Marcella
Co-occurrence of fragile x syndrome with a second genetic condition: Three independent cases of double diagnosis
2021 Tabolacci, E.; Pomponi, M. G.; Remondini, L.; Pietrobono, R.; Orteschi, D.; Nobile, Veronica; Pucci, Cecilia; Musto, Elisa; Pane, Marika; Mercuri, Eugenio Maria; Neri, Giovanni; Genuardi, Maurizio; Chiurazzi, Pietro; Zollino, Marcella
DNA Methylation, Mechanisms of FMR1 Inactivation and Therapeutic Perspectives for Fragile X Syndrome
2021 Nobile, Veronica; Pucci, Cecilia; Chiurazzi, Pietro; Neri, Giovanni; Tabolacci, Elisabetta
Infantile Liver Failure Syndrome 1 associated with a novel variant of the LARS1 gene: Clinical, genetic, and functional characterization
2021 Tabolacci, Elisabetta; Molinario, C; Marangi, Giuseppe; Nobile, Veronica; Arena, Vincenzo; Mendes, Mi; Smith, Dec; Salomons, Gs; Tana, Milena; Costa, S; Vento, Giovanni; Genuardi, Maurizio
Altered mitochondrial function in cells carrying a premutation or unmethylated full mutation of the FMR1 gene
2020 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.
Reversion to Normal of FMR1 Expanded Alleles: A Rare Event in Two Independent Fragile X Syndrome Families
2020 Tabolacci, Elisabetta; Pietrobono, Roberta; Maneri, Giulia; Remondini, Laura; Nobile, Veronica; Della Monica, Matteo; Pomponi, Maria Grazia; Genuardi, Maurizio; Neri, Giovanni; Chiurazzi, Pietro
Methylated premutation of the FMR1 gene in three sisters: correlating CGG expansion and epigenetic inactivation
2020 Tabolacci, E.; Pomponi, M. G.; Remondini, L.; Pietrobono, R.; Nobile, V.; Pennacchio, G.; Gurrieri, F.; Neri, G.; Genuardi, M.; Chiurazzi, P.
| Data di pubblicazione | Titolo | Autore(i) | File |
|---|---|---|---|
| 1-gen-2023 | Age-Dependent Dysregulation of APP in Neuronal and Skin Cells from Fragile X Individuals | Cencelli, G; Pacini, L; De Luca, A; Messia, I; Gentile, A; Kang, Y; Nobile, Veronica; Tabolacci, Elisabetta; Jin, P; Farace, Mg; Bagni, C. | |
| 1-gen-2022 | Mechanisms of the FMR1 Repeat Instability: How Does the CGG Sequence Expand? | Tabolacci, Elisabetta; Nobile, Veronica; Pucci, Cecilia; Chiurazzi, Pietro | |
| 1-gen-2022 | Mother and Daughter Carrying of the Same Pathogenic Variant in FGFR2 with Discordant Phenotype | Lo Vecchio, F.; Tabolacci, E.; Nobile, V.; Pomponi, M. G.; Pietrobono, R.; Neri, G.; Amenta, S.; Candida, E.; Grippaudo, C.; Lo Cascio, E.; Vita, A.; Tiberio, F.; Arcovito, A.; Lattanzi, W.; Genuardi, M.; Chiurazzi, P. | |
| 1-gen-2021 | Co-occurrence of fragile x syndrome with a second genetic condition: Three independent cases of double diagnosis | Tabolacci, Elisabetta; Pomponi, M. G.; Remondini, L.; Pietrobono, R.; Orteschi, D.; Nobile, Veronica; Pucci, Cecilia; Musto, Elisa; Pane, Marika; Mercuri, Eugenio Maria; Neri, G.; Genuardi, Maurizio; Chiurazzi, Pietro; Zollino, Marcella | |
| 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, Veronica; Pucci, Cecilia; Musto, Elisa; Pane, Marika; Mercuri, Eugenio Maria; Neri, Giovanni; Genuardi, Maurizio; Chiurazzi, Pietro; Zollino, Marcella | |
| 1-gen-2021 | DNA Methylation, Mechanisms of FMR1 Inactivation and Therapeutic Perspectives for Fragile X Syndrome | Nobile, Veronica; Pucci, Cecilia; Chiurazzi, Pietro; Neri, Giovanni; Tabolacci, Elisabetta | |
| 1-gen-2021 | Infantile Liver Failure Syndrome 1 associated with a novel variant of the LARS1 gene: Clinical, genetic, and functional characterization | Tabolacci, Elisabetta; Molinario, C; Marangi, Giuseppe; Nobile, Veronica; Arena, Vincenzo; Mendes, Mi; Smith, Dec; Salomons, Gs; Tana, Milena; Costa, S; Vento, Giovanni; Genuardi, Maurizio | |
| 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 | 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 | 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. |