PETTINATO, FABIO SALVATORE
PETTINATO, FABIO SALVATORE
FISICA ED ASTRONOMIA "ETTORE MAJORANA"
Acute neurological regression following fever as presenting sign of pontocerebellar hypoplasia type 2D (SEPSECS mutation)
file da validare2025-01-01 Pettinato, Fabio; Marzà, Viviana; Ciantia, Fiorella; Romanello, Giorgia; Cocuzza, Maria; Fichera, Marco; Rizzo, Renata; Barone, Rita
Clinical and radiological correlates of activities of daily living in cerebellar atrophy caused by PMM2 mutations (PMM2-CDG)
2021-01-01 Pettinato, Fabio; Mostile, Giovanni; Battini, Roberta; Martinelli, Diego; Madeo, Annalisa; Biamino, Elisa; Frattini, Daniele; Garozzo, Domenico; Gasperini, Serena; Parini, Rossella; Sirchia, Fabio; Sortino, Giuseppe; Sturiale, Luisa; Matthijs, Gert; Morrone, Amelia; Di Rocco, Maja; Rizzo, Renata; Jaeken, Jaak; Fiumara, Agata; Barone, Rita
Clinical severity and cardiac phenotype in phosphomannomutase 2‐congenital disorders of glycosylation : Insights into genetics and management recommendations
2024-01-01 Holubova, Veronika; Barone, Rita; Grunewald, Stephanie; Tesařová, Markéta; Hansíková, Hana; Augustínová, Jana; Sykut‐cegielska, Jolanta; De Nictolis, Francesca; Diaz‐moreno, Unai; Elangovan, Ramyia; Epifani, Florencia; Gasperini, Serena; Jansen, Mirian; Lefeber, Dirk; Maksym‐gasiorek, Dorota; Diego, Martinelli; Ounap, Katrin; Pettinato, Fabio; Põder, Haide; Rymen, Daisy; Vals, Mari‐anne; Serrano, Mercedes; Witters, Peter; Honzík, Tomáš
Correction: The Developmental Autism Early Screening (DAES): a novel test for screening Autism Spectrum Disorder
2024-01-01 Cirnigliaro, Lara; Valle, Maria Stella Carmela; Casabona, Antonino; Randazzo, Martina; LA BRUNA, Francesca; Pettinato, Fabio; Narzisi, Antonio; Rizzo, Renata; Barone, Rita
Dynamical complexity of postural control system in autism spectrum disorder: a feasibility study of linear and non-linear measures in posturographic analysis of upright posture
2024-01-01 Pettinato, FABIO SALVATORE; Valle, Maria Stella Carmela; Cioni, Matteo; Cirnigliaro, Lara; Rizzo, Renata; Barone, RITA MARIA ELISA; Bosco, Gianfranco; Casabona, Antonino
Early lexical development measurements by the Language Development Survey: A feasibility study in Italian-learning children with autism spectrum disorder
2021-01-01 Barone, R; Gulisano, M; Cirnigliaro, L; LO FARO, C; Pettinato, F; Maugeri, F; Guardabasso, V; Rizzo, R
Electroclinical Features of Epilepsy in Mucopolysaccharidosis III: Outcome Description in a Cohort of 15 Italian Patients
2021-01-01 Barone, R.; Fiumara, A.; Gulisano, M.; Cirnigliaro, L.; Cocuzza, M. D.; Guida, C.; Pettinato, F.; Greco, F.; Elia, M.; Rizzo, R.
Instrumented assessment of gait disturbance in PMM2-CDG adults: a feasibility analysis
2024-01-01 Cirnigliaro, L.; Pettinato, F.; Valle, Maria Stella Carmela; Casabona, A.; Fiumara, A.; Vecchio, M.; Amico, V.; Rizzo, R.; Jaeken, J.; Barone, R.; Cioni, M.
PARK2 microdeletion in a multiplex family with autism spectrum disorder
2023-01-01 Barone, Rita; Cirnigliaro, Lara; Saccuzzo, Lucia; Valdese, Silvia; Pettinato, Fabio; Prato, Adriana; Bernardini, Laura; Fichera, Marco; Rizzo, Renata
Self- and Parent-Reported Psychological Symptoms in Young Cancer Survivors and Control Peers: Results from a Clinical Center
2020-01-01 Barone, Rita; Gulisano, Mariangela; Cannata, Emanuela; Padalino, Sara; Saia, Federica; Maugeri, Nicoletta; Pettinato, Fabio; Lo Nigro, Luca; Casabona, Antonino; Russo, Giovanna; Di Cataldo, Andrea; Rizzo, Renata
Targeted metabolomic evaluation of peripheral blood mononucleated cells from patients with PMM2-CDG
file da validare2025-01-01 Mangione, Renata; Cirnigliaro, Lara; Saab, Miriam Wissam; Pettinato, Fabio; Barbato, Alessandro; Distefano, Alfio; Spina, Enrico La; Lazzarino, Giuseppe; Volti, Giovanni Li; Longhitano, Lucia; Tibullo, Daniele; Pittalà, Alessandra; Giallongo, Cesarina; Di Pietro, Valentina; Tabbi, Giovanni; Longo, Salvatore Antonio; Graziani, Andrea; Tavazzi, Barbara; Amorini, Angela Maria; Lazzarino, Giacomo; Barone, Rita
The Griffiths Autism Early Screening (GAES): A Novel Developmental Test for Screening Autism Spectrum Disorder
2023-01-01 Cirnigliaro, L.; Valle, Maria Stella Carmela; Casabona, A.; Randazzo, M.; La Bruna, F.; Pettinato, F.; Narzisi, A.; Rizzo, R.; Barone, R.
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| Acute neurological regression following fever as presenting sign of pontocerebellar hypoplasia type 2D (SEPSECS mutation) | 1-gen-2025 | Pettinato, Fabio; Marzà, Viviana; Ciantia, Fiorella; Romanello, Giorgia; Cocuzza, Maria; Fichera, Marco; Rizzo, Renata; Barone, Rita | file da validare |
| Clinical and radiological correlates of activities of daily living in cerebellar atrophy caused by PMM2 mutations (PMM2-CDG) | 1-gen-2021 | Pettinato, Fabio; Mostile, Giovanni; Battini, Roberta; Martinelli, Diego; Madeo, Annalisa; Biamino, Elisa; Frattini, Daniele; Garozzo, Domenico; Gasperini, Serena; Parini, Rossella; Sirchia, Fabio; Sortino, Giuseppe; Sturiale, Luisa; Matthijs, Gert; Morrone, Amelia; Di Rocco, Maja; Rizzo, Renata; Jaeken, Jaak; Fiumara, Agata; Barone, Rita | |
| Clinical severity and cardiac phenotype in phosphomannomutase 2‐congenital disorders of glycosylation : Insights into genetics and management recommendations | 1-gen-2024 | Holubova, Veronika; Barone, Rita; Grunewald, Stephanie; Tesařová, Markéta; Hansíková, Hana; Augustínová, Jana; Sykut‐cegielska, Jolanta; De Nictolis, Francesca; Diaz‐moreno, Unai; Elangovan, Ramyia; Epifani, Florencia; Gasperini, Serena; Jansen, Mirian; Lefeber, Dirk; Maksym‐gasiorek, Dorota; Diego, Martinelli; Ounap, Katrin; Pettinato, Fabio; Põder, Haide; Rymen, Daisy; Vals, Mari‐anne; Serrano, Mercedes; Witters, Peter; Honzík, Tomáš | |
| Correction: The Developmental Autism Early Screening (DAES): a novel test for screening Autism Spectrum Disorder | 1-gen-2024 | Cirnigliaro, Lara; Valle, Maria Stella Carmela; Casabona, Antonino; Randazzo, Martina; LA BRUNA, Francesca; Pettinato, Fabio; Narzisi, Antonio; Rizzo, Renata; Barone, Rita | |
| Dynamical complexity of postural control system in autism spectrum disorder: a feasibility study of linear and non-linear measures in posturographic analysis of upright posture | 1-gen-2024 | Pettinato, FABIO SALVATORE; Valle, Maria Stella Carmela; Cioni, Matteo; Cirnigliaro, Lara; Rizzo, Renata; Barone, RITA MARIA ELISA; Bosco, Gianfranco; Casabona, Antonino | |
| Early lexical development measurements by the Language Development Survey: A feasibility study in Italian-learning children with autism spectrum disorder | 1-gen-2021 | Barone, R; Gulisano, M; Cirnigliaro, L; LO FARO, C; Pettinato, F; Maugeri, F; Guardabasso, V; Rizzo, R | |
| Electroclinical Features of Epilepsy in Mucopolysaccharidosis III: Outcome Description in a Cohort of 15 Italian Patients | 1-gen-2021 | Barone, R.; Fiumara, A.; Gulisano, M.; Cirnigliaro, L.; Cocuzza, M. D.; Guida, C.; Pettinato, F.; Greco, F.; Elia, M.; Rizzo, R. | |
| Instrumented assessment of gait disturbance in PMM2-CDG adults: a feasibility analysis | 1-gen-2024 | Cirnigliaro, L.; Pettinato, F.; Valle, Maria Stella Carmela; Casabona, A.; Fiumara, A.; Vecchio, M.; Amico, V.; Rizzo, R.; Jaeken, J.; Barone, R.; Cioni, M. | |
| PARK2 microdeletion in a multiplex family with autism spectrum disorder | 1-gen-2023 | Barone, Rita; Cirnigliaro, Lara; Saccuzzo, Lucia; Valdese, Silvia; Pettinato, Fabio; Prato, Adriana; Bernardini, Laura; Fichera, Marco; Rizzo, Renata | |
| Self- and Parent-Reported Psychological Symptoms in Young Cancer Survivors and Control Peers: Results from a Clinical Center | 1-gen-2020 | Barone, Rita; Gulisano, Mariangela; Cannata, Emanuela; Padalino, Sara; Saia, Federica; Maugeri, Nicoletta; Pettinato, Fabio; Lo Nigro, Luca; Casabona, Antonino; Russo, Giovanna; Di Cataldo, Andrea; Rizzo, Renata | |
| Targeted metabolomic evaluation of peripheral blood mononucleated cells from patients with PMM2-CDG | 1-gen-2025 | Mangione, Renata; Cirnigliaro, Lara; Saab, Miriam Wissam; Pettinato, Fabio; Barbato, Alessandro; Distefano, Alfio; Spina, Enrico La; Lazzarino, Giuseppe; Volti, Giovanni Li; Longhitano, Lucia; Tibullo, Daniele; Pittalà, Alessandra; Giallongo, Cesarina; Di Pietro, Valentina; Tabbi, Giovanni; Longo, Salvatore Antonio; Graziani, Andrea; Tavazzi, Barbara; Amorini, Angela Maria; Lazzarino, Giacomo; Barone, Rita | file da validare |
| The Griffiths Autism Early Screening (GAES): A Novel Developmental Test for Screening Autism Spectrum Disorder | 1-gen-2023 | Cirnigliaro, L.; Valle, Maria Stella Carmela; Casabona, A.; Randazzo, M.; La Bruna, F.; Pettinato, F.; Narzisi, A.; Rizzo, R.; Barone, R. |