LONGOBARDI, ELENA
LONGOBARDI, ELENA
DIPARTIMENTO DI NEUROSCIENZE E SCIENZE RIPRODUTTIVE ED ODONTOSTOMATOLOGICHE
A novel homozygous KCNQ3 loss-of-function variant causes non-syndromic intellectual disability and neonatal-onset pharmacodependent epilepsy
2019 Lauritano, Anna; Moutton, S; Longobardi, Elena; Tran Mau-Them, F; Laudati, G; Nappi, Piera; Soldovieri, Mv; Ambrosino, P; Cataldi, M; Jouan, T; Lehalle, D; Maurey, H; Philippe, C; Miceli, F; Vitobello, A; Taglialatela, M.
N6-Isopentenyladenosine Enhances the Radiosensitivity of Glioblastoma Cells by Inhibiting the Homologous Recombination Repair Protein RAD51 Expression
2020 Navarra, G.; Pagano, C.; Pacelli, R.; Crescenzi, E.; Longobardi, E.; Gazzerro, P.; Fiore, D.; Pastorino, O.; Pentimalli, F.; Laezza, C.; Bifulco, M.
Generation of an iPSC line (UNINAi001-A) from a girl with neonatal-onset epilepsy and non-syndromic intellectual disability carrying the homozygous KCNQ3 p.PHE534ILEfs*15 variant and of an iPSC line (UNINAi002-A) from a non-carrier, unaffected brother
2021 Longobardi, Elena; Miceli, Francesco; Secondo, Agnese; Cicatiello, Rita; Izzo, Antonella; Tinto, Nadia; Moutton, Sebastien; Tran Mau-Them, Frédéric; Vitobello, Antonio; Taglialatela, Maurizio
| Titolo | Tipologia | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|---|
| A novel homozygous KCNQ3 loss-of-function variant causes non-syndromic intellectual disability and neonatal-onset pharmacodependent epilepsy | 1.1 Articolo in rivista | 2019 | Lauritano, Anna; Moutton, S; Longobardi, Elena; Tran Mau-Them, F; Laudati, G; Nappi, Piera; Soldovieri, Mv; Ambrosino, P; Cataldi, M; Jouan, T; Lehalle, D; Maurey, H; Philippe, C; Miceli, F; Vitobello, A; Taglialatela, M. | |
| N6-Isopentenyladenosine Enhances the Radiosensitivity of Glioblastoma Cells by Inhibiting the Homologous Recombination Repair Protein RAD51 Expression | 1.1 Articolo in rivista | 2020 | Navarra, G.; Pagano, C.; Pacelli, R.; Crescenzi, E.; Longobardi, E.; Gazzerro, P.; Fiore, D.; Pastorino, O.; Pentimalli, F.; Laezza, C.; Bifulco, M. | |
| Generation of an iPSC line (UNINAi001-A) from a girl with neonatal-onset epilepsy and non-syndromic intellectual disability carrying the homozygous KCNQ3 p.PHE534ILEfs*15 variant and of an iPSC line (UNINAi002-A) from a non-carrier, unaffected brother | 1.1 Articolo in rivista | 2021 | Longobardi, Elena; Miceli, Francesco; Secondo, Agnese; Cicatiello, Rita; Izzo, Antonella; Tinto, Nadia; Moutton, Sebastien; Tran Mau-Them, Frédéric; Vitobello, Antonio; Taglialatela, Maurizio |