FUSCO, Carlo
FUSCO, Carlo
A 15-year epileptogenic period after perinatal brain injury
2017-01-01 Pisani, Francesco; Pavlidis, Elena; Facini, Carlotta; La Morgia, Chiara; Fusco, Carlo; Cantalupo, Gaetano
A Case of Congenital Paramyotonia with Atypical Features in a Family with a New Variation of SCN4A Gene
2018-01-01 Fusco, Carlo; Pavlidis, Elena; Spagnoli, Carlotta; Grazia Gabriella Salerno, ; Daniele, Frattini; Pisani, Francesco
Aromatic L-Amino-Acid Decarboxylase Deficiency Screening by Analysis of 3-O-Methyldopa in Dried Blood Spots: Results of a Multicentric Study in Neurodevelopmental Disorders
2023-01-01 Rizzi, Susanna; Spagnoli, Carlotta; Bellini, Melissa; Cesaroni, Carlo Alberto; Spezia, Elisabetta; Bergonzini, Patrizia; Caramaschi, Elisa; Soliani, Luca; Turco, Emanuela Claudia; Piccolo, Benedetta; Demuth, Laura; Cordelli, Duccio Maria; Biasucci, Giacomo; Frattini, Daniele; Fusco, Carlo
Charcot-marie-tooth disease with pyramidal features due to a new mutation of EGR2 gene
2019-01-01 Fusco, Carlo; Spagnoli, Carlotta; Salerno, Grazia Gabriella; Pavlidis, Elena; Frattini, Daniele; Pisani, Francesco; Bassi, Maria Teresa
Clinical and genetic findings in a series of eight families with arthrogryposis
2022-01-01 Pollazzon, M.; Caraffi, S. G.; Faccioli, S.; Rosato, S.; Fodstad, H.; Campos-Xavier, B.; Soncini, E.; Comitini, G.; Frattini, D.; Grimaldi, T.; Marinelli, M.; Martorana, D.; Percesepe, A.; Sassi, S.; Fusco, C.; Gargano, G.; Superti-Furga, A.; Garavelli, L.
CMV-associated axonal sensory-motor Guillain-Barré syndrome in a child: Case report and review of the literature
2016-01-01 Spagnoli, Carlotta; Iodice, Alessandro; Salerno, Grazia Gabriella; Frattini, Daniele; Bertani, Gianna; Pisani, Francesco; Fusco, Carlo
Hereditary neuropathy with liability to pressure palsy (HNPP): Report of a family with a new point mutation in PMP22 gene
2017-01-01 Fusco, Carlo; Spagnoli, Carlotta; Salerno, Grazia Gabriella; Pavlidis, Elena; Frattini, Daniele; Pisani, Francesco
KCNQ2 encephalopathy: A case due to a de novo deletion
2018-01-01 Spagnoli, Carlotta; Salerno, Grazia Gabriella; Iodice, Alessandro; Frattini, Daniele; Pisani, Francesco; Fusco, Carlo
Late diagnosis of severe long-standing autoimmune hypothyroidism after the first lockdown for the Covid-19 pandemic: clinical features and follow-up
2021-01-01 Mansueto, M. L.; Zagni, G.; Sartori, C.; Bermudez, B. A. O.; Righi, B.; Catellani, C.; Fusco, C.; Frasoldati, A.; De Fanti, A.; Iughetti, L.; Street, M. E.
Letter to the Editor
2016-01-01 Pisani, Francesco; Piccolo, Benedetta; Cantalupo, Gaetano; Copioli, Cristiana; Fusco, Carlo; Pelosi, Annalisa; Tassinari, CARLO ALBERTO; Seri, Stefano
Novel phenotype in a family with infantile convulsions and paroxysmal choreoathetosis syndrome and PRRT2 gene mutation
2014-01-01 Fusco, Carlo; Russo, Angelo; Invernizzi, Federica; Frattini, Daniele; Pisani, Francesco; Garavaglia, Barbara
Peripheral neuropathy and gastroenterologic disorders: an overview on an underrecognized association
2018-01-01 Spagnoli, Carlotta; Pisani, Francesco; Di Mario, Francesco; Leandro, Gioacchino; Gaiani, Federica; De' Angelis, Gian Luigi; Fusco, Carlo
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| A 15-year epileptogenic period after perinatal brain injury | 1-gen-2017 | Pisani, Francesco; Pavlidis, Elena; Facini, Carlotta; La Morgia, Chiara; Fusco, Carlo; Cantalupo, Gaetano | |
| A Case of Congenital Paramyotonia with Atypical Features in a Family with a New Variation of SCN4A Gene | 1-gen-2018 | Fusco, Carlo; Pavlidis, Elena; Spagnoli, Carlotta; Grazia Gabriella Salerno, ; Daniele, Frattini; Pisani, Francesco | |
| Aromatic L-Amino-Acid Decarboxylase Deficiency Screening by Analysis of 3-O-Methyldopa in Dried Blood Spots: Results of a Multicentric Study in Neurodevelopmental Disorders | 1-gen-2023 | Rizzi, Susanna; Spagnoli, Carlotta; Bellini, Melissa; Cesaroni, Carlo Alberto; Spezia, Elisabetta; Bergonzini, Patrizia; Caramaschi, Elisa; Soliani, Luca; Turco, Emanuela Claudia; Piccolo, Benedetta; Demuth, Laura; Cordelli, Duccio Maria; Biasucci, Giacomo; Frattini, Daniele; Fusco, Carlo | |
| Charcot-marie-tooth disease with pyramidal features due to a new mutation of EGR2 gene | 1-gen-2019 | Fusco, Carlo; Spagnoli, Carlotta; Salerno, Grazia Gabriella; Pavlidis, Elena; Frattini, Daniele; Pisani, Francesco; Bassi, Maria Teresa | |
| Clinical and genetic findings in a series of eight families with arthrogryposis | 1-gen-2022 | Pollazzon, M.; Caraffi, S. G.; Faccioli, S.; Rosato, S.; Fodstad, H.; Campos-Xavier, B.; Soncini, E.; Comitini, G.; Frattini, D.; Grimaldi, T.; Marinelli, M.; Martorana, D.; Percesepe, A.; Sassi, S.; Fusco, C.; Gargano, G.; Superti-Furga, A.; Garavelli, L. | |
| CMV-associated axonal sensory-motor Guillain-Barré syndrome in a child: Case report and review of the literature | 1-gen-2016 | Spagnoli, Carlotta; Iodice, Alessandro; Salerno, Grazia Gabriella; Frattini, Daniele; Bertani, Gianna; Pisani, Francesco; Fusco, Carlo | |
| Hereditary neuropathy with liability to pressure palsy (HNPP): Report of a family with a new point mutation in PMP22 gene | 1-gen-2017 | Fusco, Carlo; Spagnoli, Carlotta; Salerno, Grazia Gabriella; Pavlidis, Elena; Frattini, Daniele; Pisani, Francesco | |
| KCNQ2 encephalopathy: A case due to a de novo deletion | 1-gen-2018 | Spagnoli, Carlotta; Salerno, Grazia Gabriella; Iodice, Alessandro; Frattini, Daniele; Pisani, Francesco; Fusco, Carlo | |
| Late diagnosis of severe long-standing autoimmune hypothyroidism after the first lockdown for the Covid-19 pandemic: clinical features and follow-up | 1-gen-2021 | Mansueto, M. L.; Zagni, G.; Sartori, C.; Bermudez, B. A. O.; Righi, B.; Catellani, C.; Fusco, C.; Frasoldati, A.; De Fanti, A.; Iughetti, L.; Street, M. E. | |
| Letter to the Editor | 1-gen-2016 | Pisani, Francesco; Piccolo, Benedetta; Cantalupo, Gaetano; Copioli, Cristiana; Fusco, Carlo; Pelosi, Annalisa; Tassinari, CARLO ALBERTO; Seri, Stefano | |
| Novel phenotype in a family with infantile convulsions and paroxysmal choreoathetosis syndrome and PRRT2 gene mutation | 1-gen-2014 | Fusco, Carlo; Russo, Angelo; Invernizzi, Federica; Frattini, Daniele; Pisani, Francesco; Garavaglia, Barbara | |
| Peripheral neuropathy and gastroenterologic disorders: an overview on an underrecognized association | 1-gen-2018 | Spagnoli, Carlotta; Pisani, Francesco; Di Mario, Francesco; Leandro, Gioacchino; Gaiani, Federica; De' Angelis, Gian Luigi; Fusco, Carlo |