SERPIERI, VALENTINA
SERPIERI, VALENTINA
DIPARTIMENTO DI MEDICINA MOLECOLARE
A novel IRF2BPL truncating variant is associated with endolysosomal storage
2020-01-01 Ginevrino, M.; Battini, R.; Nuovo, S.; Simonati, A.; Micalizzi, A.; Contaldo, I.; Serpieri, V.; Valente, E.
Age and sex prevalence estimate of Joubert syndrome in Italy
2020-01-01 Nuovo, Sara; Bacigalupo, Ilaria; Ginevrino, Monia; Battini, Roberta; Bertini, Enrico; Borgatti, Renato; Casella, Antonella; Micalizzi, Alessia; Nardella, Marta; Romaniello, Romina; Serpieri, Valentina; Zanni, Ginevra; Valente, Enza Maria; Vanacore, Nicola
DIVAs, a phenotype-driven machine-learning model to assess the pathogenicity
2021-01-01 De Paoli, F.; Limongelli, I.; Zucca, S.; Baccalini, F.; Serpieri, V.; D'Abrusco, F.; Valente, E. M.; Magni, P.
Dystonia as Presenting Feature of Compound Heterozygous PMPCA Gene Variants
2023-01-01 DE SANTIS, Tiziana; Serpieri, Valentina; Biagini, Tommaso; Lanotte, Michele; Criffò, Carlotta; Mazza, Tommaso; Valente, ENZA MARIA; Albanese, Alberto
Electroretinographic Assessment in Joubert Syndrome: A Suggested Objective Method to Evaluate the Effectiveness of Future Targeted Treatment
2020-01-01 Ruberto, G.; Parisi, V.; Bertone, C.; Signorini, S.; Antonini, M.; Valente, E. M.; Manzoni, F.; Serpieri, V.; Fausto, R.; Quaranta, L.
Generation of induced pluripotent stem cell (iPSC) lines from a Joubert syndrome patient with compound heterozygous mutations in C5orf42 gene
2020-01-01 Ali, E.; Ferraro, R. M.; Lanzi, G.; Masneri, S.; Piovani, G.; Mazzoldi, E. L.; Serpieri, V.; Valente, E. M.; Giordano, L.; Giliani, S. C.
Genetic and functional characterization of cerebellar and brainstem congenital defects
2021-05-31 Serpieri, Valentina
Genotype-phenotype correlates in Joubert syndrome: A review
2022-01-01 Gana, Simone; Serpieri, Valentina; Valente, Enza Maria
Phenotypic definition and genotype-phenotype correlates in pmpca-related disease
2021-01-01 Serpieri, V.; Biagini, T.; Mazzotta, C.; Pasquariello, R.; Rubegni, A.; Santorelli, F.; Ongari, G.; Cerri, S.; Mazza, T.; Battini, R.; Valente, E. M.
PIGQ-Related Glycophosphatidylinositol Deficiency Associated with Nonprogressive Congenital Ataxia
2021-01-01 Zanni, G.; D'Abrusco, F.; Nicita, F.; Cascioli, S.; Tosi, M.; Corrente, F.; Serpieri, V.; Ciccone, R.; Motta, M.; Vasco, G.; Carsetti, R.; Valente, E. M.; Bertini, E.
Refining the mutational spectrum and gene-phenotype correlates in pontocerebellar hypoplasia: Results of a multicentric study
2020-01-01 Nuovo, S.; Micalizzi, A.; Romaniello, R.; Arrigoni, F.; Ginevrino, M.; Casella, A.; Serpieri, V.; D'Arrigo, S.; Briguglio, M.; Salerno, G. G.; Rossato, S.; Sartori, S.; Leuzzi, V.; Battini, R.; Ben-Zeev, B.; Graziano, C.; Mirabelli Badenier, M.; Brankovic, V.; Nardocci, N.; Spiegel, R.; Petkovic RamadAa, D.; Vento, G.; Marti, I.; Simonati, A.; Dipresa, S.; Freri, E.; Mazza, T.; Bassi, M. T.; Bosco, L.; Travaglini, L.; Zanni, G.; Bertini, E. S.; Vanacore, N.; Borgatti, R.; Valente, E. M.
SUFU haploinsufficiency causes a recognisable neurodevelopmental phenotype at the mild end of the Joubert syndrome spectrum
2022-01-01 Serpieri, Valentina; D'Abrusco, Fulvio; Dempsey, Jennifer C; Cheng, Yong-Han Hank; Arrigoni, Filippo; Baker, Janice; Battini, Roberta; Bertini, Enrico Silvio; Borgatti, Renato; Christman, Angela K; Curry, Cynthia; D'Arrigo, Stefano; Fluss, Joel; Freilinger, Michael; Gana, Simone; Ishak, Gisele E; Leuzzi, Vincenzo; Loucks, Hailey; Manti, Filippo; Mendelsohn, Nancy; Merlini, Laura; Miller, Caitlin V; Muhammad, Ansar; Nuovo, Sara; Romaniello, Romina; Schmidt, Wolfgang; Signorini, Sabrina; Siliquini, Sabrina; Szczałuba, Krzysztof; Vasco, Gessica; Wilson, Meredith; Zanni, Ginevra; Boltshauser, Eugen; Doherty, Dan; Valente, Enza Maria
Superior Cerebellar Atrophy: An Imaging Clue to Diagnose ITPR1-Related Disorders
2022-01-01 Romaniello, R.; Pasca, L.; Panzeri, E.; D'Abrusco, F.; Travaglini, L.; Serpieri, V.; Signorini, S.; Aiello, C.; Bertini, E.; Bassi, M. T.; Valente, E. M.; Zanni, G.; Borgatti, R.; Arrigoni, F.
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| A novel IRF2BPL truncating variant is associated with endolysosomal storage | 1-gen-2020 | Ginevrino, M.; Battini, R.; Nuovo, S.; Simonati, A.; Micalizzi, A.; Contaldo, I.; Serpieri, V.; Valente, E. | |
| Age and sex prevalence estimate of Joubert syndrome in Italy | 1-gen-2020 | Nuovo, Sara; Bacigalupo, Ilaria; Ginevrino, Monia; Battini, Roberta; Bertini, Enrico; Borgatti, Renato; Casella, Antonella; Micalizzi, Alessia; Nardella, Marta; Romaniello, Romina; Serpieri, Valentina; Zanni, Ginevra; Valente, Enza Maria; Vanacore, Nicola | |
| DIVAs, a phenotype-driven machine-learning model to assess the pathogenicity | 1-gen-2021 | De Paoli, F.; Limongelli, I.; Zucca, S.; Baccalini, F.; Serpieri, V.; D'Abrusco, F.; Valente, E. M.; Magni, P. | |
| Dystonia as Presenting Feature of Compound Heterozygous PMPCA Gene Variants | 1-gen-2023 | DE SANTIS, Tiziana; Serpieri, Valentina; Biagini, Tommaso; Lanotte, Michele; Criffò, Carlotta; Mazza, Tommaso; Valente, ENZA MARIA; Albanese, Alberto | |
| Electroretinographic Assessment in Joubert Syndrome: A Suggested Objective Method to Evaluate the Effectiveness of Future Targeted Treatment | 1-gen-2020 | Ruberto, G.; Parisi, V.; Bertone, C.; Signorini, S.; Antonini, M.; Valente, E. M.; Manzoni, F.; Serpieri, V.; Fausto, R.; Quaranta, L. | |
| Generation of induced pluripotent stem cell (iPSC) lines from a Joubert syndrome patient with compound heterozygous mutations in C5orf42 gene | 1-gen-2020 | Ali, E.; Ferraro, R. M.; Lanzi, G.; Masneri, S.; Piovani, G.; Mazzoldi, E. L.; Serpieri, V.; Valente, E. M.; Giordano, L.; Giliani, S. C. | |
| Genetic and functional characterization of cerebellar and brainstem congenital defects | 31-mag-2021 | Serpieri, Valentina | |
| Genotype-phenotype correlates in Joubert syndrome: A review | 1-gen-2022 | Gana, Simone; Serpieri, Valentina; Valente, Enza Maria | |
| Phenotypic definition and genotype-phenotype correlates in pmpca-related disease | 1-gen-2021 | Serpieri, V.; Biagini, T.; Mazzotta, C.; Pasquariello, R.; Rubegni, A.; Santorelli, F.; Ongari, G.; Cerri, S.; Mazza, T.; Battini, R.; Valente, E. M. | |
| PIGQ-Related Glycophosphatidylinositol Deficiency Associated with Nonprogressive Congenital Ataxia | 1-gen-2021 | Zanni, G.; D'Abrusco, F.; Nicita, F.; Cascioli, S.; Tosi, M.; Corrente, F.; Serpieri, V.; Ciccone, R.; Motta, M.; Vasco, G.; Carsetti, R.; Valente, E. M.; Bertini, E. | |
| Refining the mutational spectrum and gene-phenotype correlates in pontocerebellar hypoplasia: Results of a multicentric study | 1-gen-2020 | Nuovo, S.; Micalizzi, A.; Romaniello, R.; Arrigoni, F.; Ginevrino, M.; Casella, A.; Serpieri, V.; D'Arrigo, S.; Briguglio, M.; Salerno, G. G.; Rossato, S.; Sartori, S.; Leuzzi, V.; Battini, R.; Ben-Zeev, B.; Graziano, C.; Mirabelli Badenier, M.; Brankovic, V.; Nardocci, N.; Spiegel, R.; Petkovic RamadAa, D.; Vento, G.; Marti, I.; Simonati, A.; Dipresa, S.; Freri, E.; Mazza, T.; Bassi, M. T.; Bosco, L.; Travaglini, L.; Zanni, G.; Bertini, E. S.; Vanacore, N.; Borgatti, R.; Valente, E. M. | |
| SUFU haploinsufficiency causes a recognisable neurodevelopmental phenotype at the mild end of the Joubert syndrome spectrum | 1-gen-2022 | Serpieri, Valentina; D'Abrusco, Fulvio; Dempsey, Jennifer C; Cheng, Yong-Han Hank; Arrigoni, Filippo; Baker, Janice; Battini, Roberta; Bertini, Enrico Silvio; Borgatti, Renato; Christman, Angela K; Curry, Cynthia; D'Arrigo, Stefano; Fluss, Joel; Freilinger, Michael; Gana, Simone; Ishak, Gisele E; Leuzzi, Vincenzo; Loucks, Hailey; Manti, Filippo; Mendelsohn, Nancy; Merlini, Laura; Miller, Caitlin V; Muhammad, Ansar; Nuovo, Sara; Romaniello, Romina; Schmidt, Wolfgang; Signorini, Sabrina; Siliquini, Sabrina; Szczałuba, Krzysztof; Vasco, Gessica; Wilson, Meredith; Zanni, Ginevra; Boltshauser, Eugen; Doherty, Dan; Valente, Enza Maria | |
| Superior Cerebellar Atrophy: An Imaging Clue to Diagnose ITPR1-Related Disorders | 1-gen-2022 | Romaniello, R.; Pasca, L.; Panzeri, E.; D'Abrusco, F.; Travaglini, L.; Serpieri, V.; Signorini, S.; Aiello, C.; Bertini, E.; Bassi, M. T.; Valente, E. M.; Zanni, G.; Borgatti, R.; Arrigoni, F. |