POLITANO, DAVIDE
POLITANO, DAVIDE
DIPARTIMENTO DI SCIENZE DEL SISTEMA NERVOSO E DEL COMPORTAMENTO
A novel variant in NEUROD2 in a patient with Rett-like phenotype points to Glu130 codon as a mutational hotspot
2022-01-01 Politano, Davide; Gana, Simone; Pezzotti, Elena; Berardinelli, Angela; Pasca, Ludovica; Carmen Barbero, Veronica; Pichiecchio, Anna; Maria Valente, Enza; Errichiello, Edoardo
Cerebellar heterotopia in an 11-year-old child with KDM6B-related neurodevelopmental disorder: A case report and review of the literature
2024-01-01 Politano, D.; D'Abrusco, F.; Pasca, L.; Ferraro, F.; Gana, S.; Garau, J.; Zanaboni, M. P.; Rognone, E.; Pichiecchio, A.; Borgatti, R.; Valente, E. M.; De Giorgis, V.; Romaniello, R.
Cerebellar Heterotopia: Broadening the Neuroradiological Spectrum of KBG Syndrome
2024-01-01 Carrara, A.; Mangiarotti, C.; Pasca, L.; Politano, D.; Abrusco, F. D.; Barbero, V. C.; Carpani, A.; Borgatti, R.; Pichiecchio, A.; Valente, E. M.; Romaniello, R.
Expanding the Natural History of SNORD118-Related Ribosomopathy: Hints from an Early-Diagnosed Patient with Leukoencephalopathy with Calcifications and Cysts and Overview of the Literature
2023-01-01 Politano, Davide; Catalano, Guido; Pezzotti, Elena; Varesio, Costanza; Sirchia, Fabio; Casella, Antonella; Rognone, Elisa; Pichiecchio, Anna; Borgatti, Renato; Orcesi, Simona
Neuroradiologic, clinic and genetic characterization of cerebellar heterotopia: a pediatric multicentric study
2024-01-01 Pasca, Ludovica; Arrigoni, Filippo; Romaniello, Romina; Severino, Maria Savina; Politano, Davide; D'Abrusco, Fulvio; Garau, Jessica; De Giorgis, Valentina; Carpani, Adriana; Signorini, Sabrina; Orcesi, Simona; D'Arco, Felice; Alfei, Enrico; Cattaneo, Elisa; Rognone, Elisa; Uccella, Sara; Divizia, Maria Teresa; Infantino, Paolo; Valente, Enza Maria; Borgatti, Renato; Pichiecchio, Anna
PGAP2-Related Hyperphosphatasia-Mental Retardation Syndrome: Report of a Novel Patient, Toward a Broadening of Phenotypic Spectrum and Therapeutic Perspectives
2024-01-01 Saracino, Annalisa; Totaro, Martina; Politano, Davide; DE Giorgis, Valentina; Gana, Simone; Papalia, Grazia; Pichiecchio, Anna; Plumari, Massimo; Rognone, Elisa; Varesio, Costanza; Orcesi, Simona
Trisomy 22 Mosaicism from Prenatal to Postnatal Findings: A Case Series and Systematic Review of the Literature
2024-01-01 Trevisan, Valentina; Meroni, Anna; Leoni, Chiara; Sirchia, Fabio; Politano, Davide; Fiandrino, Giacomo; Giorgio, Valentina; Rigante, Donato; Limongelli, Domenico; Perri, Lucrezia; Sforza, Elisabetta; Leonardi, Francesca; Viscogliosi, Germana; Contaldo, Ilaria; Orteschi, Daniela; Proietti, Luca; Zampino, Giuseppe; Onesimo, Roberta
Titolo | Data di pubblicazione | Autore(i) | File |
---|---|---|---|
A novel variant in NEUROD2 in a patient with Rett-like phenotype points to Glu130 codon as a mutational hotspot | 1-gen-2022 | Politano, Davide; Gana, Simone; Pezzotti, Elena; Berardinelli, Angela; Pasca, Ludovica; Carmen Barbero, Veronica; Pichiecchio, Anna; Maria Valente, Enza; Errichiello, Edoardo | |
Cerebellar heterotopia in an 11-year-old child with KDM6B-related neurodevelopmental disorder: A case report and review of the literature | 1-gen-2024 | Politano, D.; D'Abrusco, F.; Pasca, L.; Ferraro, F.; Gana, S.; Garau, J.; Zanaboni, M. P.; Rognone, E.; Pichiecchio, A.; Borgatti, R.; Valente, E. M.; De Giorgis, V.; Romaniello, R. | |
Cerebellar Heterotopia: Broadening the Neuroradiological Spectrum of KBG Syndrome | 1-gen-2024 | Carrara, A.; Mangiarotti, C.; Pasca, L.; Politano, D.; Abrusco, F. D.; Barbero, V. C.; Carpani, A.; Borgatti, R.; Pichiecchio, A.; Valente, E. M.; Romaniello, R. | |
Expanding the Natural History of SNORD118-Related Ribosomopathy: Hints from an Early-Diagnosed Patient with Leukoencephalopathy with Calcifications and Cysts and Overview of the Literature | 1-gen-2023 | Politano, Davide; Catalano, Guido; Pezzotti, Elena; Varesio, Costanza; Sirchia, Fabio; Casella, Antonella; Rognone, Elisa; Pichiecchio, Anna; Borgatti, Renato; Orcesi, Simona | |
Neuroradiologic, clinic and genetic characterization of cerebellar heterotopia: a pediatric multicentric study | 1-gen-2024 | Pasca, Ludovica; Arrigoni, Filippo; Romaniello, Romina; Severino, Maria Savina; Politano, Davide; D'Abrusco, Fulvio; Garau, Jessica; De Giorgis, Valentina; Carpani, Adriana; Signorini, Sabrina; Orcesi, Simona; D'Arco, Felice; Alfei, Enrico; Cattaneo, Elisa; Rognone, Elisa; Uccella, Sara; Divizia, Maria Teresa; Infantino, Paolo; Valente, Enza Maria; Borgatti, Renato; Pichiecchio, Anna | |
PGAP2-Related Hyperphosphatasia-Mental Retardation Syndrome: Report of a Novel Patient, Toward a Broadening of Phenotypic Spectrum and Therapeutic Perspectives | 1-gen-2024 | Saracino, Annalisa; Totaro, Martina; Politano, Davide; DE Giorgis, Valentina; Gana, Simone; Papalia, Grazia; Pichiecchio, Anna; Plumari, Massimo; Rognone, Elisa; Varesio, Costanza; Orcesi, Simona | |
Trisomy 22 Mosaicism from Prenatal to Postnatal Findings: A Case Series and Systematic Review of the Literature | 1-gen-2024 | Trevisan, Valentina; Meroni, Anna; Leoni, Chiara; Sirchia, Fabio; Politano, Davide; Fiandrino, Giacomo; Giorgio, Valentina; Rigante, Donato; Limongelli, Domenico; Perri, Lucrezia; Sforza, Elisabetta; Leonardi, Francesca; Viscogliosi, Germana; Contaldo, Ilaria; Orteschi, Daniela; Proietti, Luca; Zampino, Giuseppe; Onesimo, Roberta |