VALENTE, ENZA MARIA
VALENTE, ENZA MARIA
Dipartimento di Scienze Cliniche e Sperimentali
Benign Hereditary Chorea as a Manifestation of HPCA Mutation
2023-01-01 Brunetti, Sara; Micheletti, Serena; Palmieri, Ilaria; Valente, Enza Maria; Fazzi, Elisa
Establishment of three Joubert syndrome-derived induced pluripotent stem cell (iPSC) lines harbouring compound heterozygous mutations in CC2D2A gene
2021-01-01 Ali, E.; Ferraro, R. M.; Guglielmi, A.; Lanzi, G.; Masneri, S.; Piovani, G.; Mazzoldi, E. L.; Pollara, L.; Valente, E. M.; Accorsi, P.; Giordano, L.; Giliani, S. C.
Expanding the spectrum of clinical severity of AICA-ribosiduria: Report of two siblings with mild phenotype caused by a novel pathogenic variant in ATIC gene
2023-01-01 Galli, Jessica; Valente, Enza Maria; Dewulf, Joseph; Franzoni, Alessandra; Marie, Sandrine; Plumari, Massimo; Zanetti, Federica; Fazzi, Elisa
Heterozygous APTX mutation associated with atypical multiple system atrophy-like phenotype: A case report
2024-01-01 Imarisio, Alberto; Pilotto, Andrea; Lupini, Alessandro; Biasiotto, Giorgio; Zanella, Isabella; Currò, Riccardo; Vegezzi, Elisa; Cortese, Andrea; Palmieri, Ilaria; Valente, Enza Maria; Padovani, Alessandro
Identification of bi-allelic LFNG variants in three patients and further clinical and molecular refinement of spondylocostal dysostosis 3
2023-01-01 Lecca, Mauro; Bedeschi, Maria Francesca; Izzi, Claudia; Dordoni, Chiara; Rinaldi, Berardo; Peluso, Francesca; Caraffi, Stefano Giuseppe; Prefumo, Federico; Signorelli, Marino; Zanzucchi, Matteo; Bione, Silvia; Ghigna, Claudia; Sassi, Silvia; Novelli, Antonio; Valente, Enza Maria; Superti-Furga, Andrea; Garavelli, Livia; Errichiello, Edoardo
Impaired urinary concentration ability is a sensitive predictor of renal disease progression in Joubert syndrome
2020-01-01 Nuovo, Sara; Fuiano, Laura; Micalizzi, Alessia; Battini, Roberta; Bertini, Enrico; Borgatti, Renato; Caridi, Gianluca; D'Arrigo, Stefano; Fazzi, Elisa; Fischetto, Rita; Ghiggeri, Gian Marco; Giordano, Lucio; Leuzzi, Vincenzo; Romaniello, Romina; Signorini, Sabrina; Stringini, Gilda; Zanni, Ginevra; Romani, Marta; Valente, ENZA MARIA; Emma, Francesco
Joubert syndrome-derived induced pluripotent stem cells show altered neuronal differentiation in vitro
2024-01-01 De Mori, R.; Tardivo, S.; Pollara, L.; Giliani, S. C.; Ali, E.; Giordano, L.; Leuzzi, V.; Fischetto, R.; Gener, B.; Diprima, S.; Morelli, M. J.; Monti, M. C.; Sottile, V.; Valente, E. M.
Prenatal findings in oral-facial-digital syndrome type VI: Report of three cases and literature review
2019-01-01 Dordoni, C.; Prefumo, F.; Iascone, M.; Pinelli, L.; Palumbo, G.; Bondioni, M. P.; Savoldi, G.; Donzelli, C.; Sartori, E.; Valente, E. M.; Izzi, C.
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| Benign Hereditary Chorea as a Manifestation of HPCA Mutation | 1-gen-2023 | Brunetti, Sara; Micheletti, Serena; Palmieri, Ilaria; Valente, Enza Maria; Fazzi, Elisa | |
| Establishment of three Joubert syndrome-derived induced pluripotent stem cell (iPSC) lines harbouring compound heterozygous mutations in CC2D2A gene | 1-gen-2021 | Ali, E.; Ferraro, R. M.; Guglielmi, A.; Lanzi, G.; Masneri, S.; Piovani, G.; Mazzoldi, E. L.; Pollara, L.; Valente, E. M.; Accorsi, P.; Giordano, L.; Giliani, S. C. | |
| Expanding the spectrum of clinical severity of AICA-ribosiduria: Report of two siblings with mild phenotype caused by a novel pathogenic variant in ATIC gene | 1-gen-2023 | Galli, Jessica; Valente, Enza Maria; Dewulf, Joseph; Franzoni, Alessandra; Marie, Sandrine; Plumari, Massimo; Zanetti, Federica; Fazzi, Elisa | |
| Heterozygous APTX mutation associated with atypical multiple system atrophy-like phenotype: A case report | 1-gen-2024 | Imarisio, Alberto; Pilotto, Andrea; Lupini, Alessandro; Biasiotto, Giorgio; Zanella, Isabella; Currò, Riccardo; Vegezzi, Elisa; Cortese, Andrea; Palmieri, Ilaria; Valente, Enza Maria; Padovani, Alessandro | |
| Identification of bi-allelic LFNG variants in three patients and further clinical and molecular refinement of spondylocostal dysostosis 3 | 1-gen-2023 | Lecca, Mauro; Bedeschi, Maria Francesca; Izzi, Claudia; Dordoni, Chiara; Rinaldi, Berardo; Peluso, Francesca; Caraffi, Stefano Giuseppe; Prefumo, Federico; Signorelli, Marino; Zanzucchi, Matteo; Bione, Silvia; Ghigna, Claudia; Sassi, Silvia; Novelli, Antonio; Valente, Enza Maria; Superti-Furga, Andrea; Garavelli, Livia; Errichiello, Edoardo | |
| Impaired urinary concentration ability is a sensitive predictor of renal disease progression in Joubert syndrome | 1-gen-2020 | Nuovo, Sara; Fuiano, Laura; Micalizzi, Alessia; Battini, Roberta; Bertini, Enrico; Borgatti, Renato; Caridi, Gianluca; D'Arrigo, Stefano; Fazzi, Elisa; Fischetto, Rita; Ghiggeri, Gian Marco; Giordano, Lucio; Leuzzi, Vincenzo; Romaniello, Romina; Signorini, Sabrina; Stringini, Gilda; Zanni, Ginevra; Romani, Marta; Valente, ENZA MARIA; Emma, Francesco | |
| Joubert syndrome-derived induced pluripotent stem cells show altered neuronal differentiation in vitro | 1-gen-2024 | De Mori, R.; Tardivo, S.; Pollara, L.; Giliani, S. C.; Ali, E.; Giordano, L.; Leuzzi, V.; Fischetto, R.; Gener, B.; Diprima, S.; Morelli, M. J.; Monti, M. C.; Sottile, V.; Valente, E. M. | |
| Prenatal findings in oral-facial-digital syndrome type VI: Report of three cases and literature review | 1-gen-2019 | Dordoni, C.; Prefumo, F.; Iascone, M.; Pinelli, L.; Palumbo, G.; Bondioni, M. P.; Savoldi, G.; Donzelli, C.; Sartori, E.; Valente, E. M.; Izzi, C. |