PIRONTI, ERICA
PIRONTI, ERICA
Dipartimento di Patologia Umana dell'adulto e dell'età evolutiva "Gaetano Barresi"
8q22.1 Microduplication Syndrome: Why the Brain Should Be Spared? A Literature Review and a Case Report
2018-01-01 Gagliano, A; Pironti, E; Cucinotta, F; Galati, C; Maggio, R; Alquino, Ma; Di Rosa, G
A de novo truncating mutation in ASXL1 associated with segmental overgrowth
2019-01-01 Efthymiou, S; Salpietro, V; Pironti, E; Bonsignore, M; Ferrazzoli, V; Di Rosa, G; Houlden, H
A novel SLC1A4 homozygous mutation causing congenital microcephaly, epileptic encephalopathy and spastic tetraparesis: a video-EEG and tractography – case study
2018-01-01 PIRONTI, ERICA; Salpietro, V; Cucinotta, F; Granata, F; Mormina, E; Efthymiou, S; Scuderi, C; Gagliano, A; Houlden, H; Di Rosa, G
Aripiprazole-induced Tardive Dyskinesia in 13 Years Old Girl Successfully Treated with Biperiden: A Case Report.
2017-01-01 Lamberti, M; Di Rosa, G; Cucinotta, F; Pironti, E; Galati, C; Gagliano, A.
CNTN2 gene: probabile causa di Encefalopatia Epilettica fenotipo Lennox-Gastaut like.
2018-01-01 Prato, A.; Scuderi, A.; Garufi, M.; Pironti, E.; Cucinotta, F.; Lo Re, E.; Calabrò, N.; Spanò, M.; Sgro, D. L.; Gagliano, A.
De novo mutation in SLC25A22 gene: expansion of the clinical and electroencephalographic phenotype
2021-01-01 Nicotera, Ag; Dicanio, D; Pironti, E; Bonsignore, M; Cafeo, A; Efthymiou, S; Mondello, P; Salpietro, V; Houlden, H; Di Rosa, G
Electroclinical history of a five-year-old girl with GRIN1-related early-onset epileptic encephalopathy: a video-case study
2018-01-01 Pironti, E; Granata, F; Cucinotta, F; Gagliano, A; Efthymiou, S; Houlden, H; Salpietro, V; Di Rosa, G
Gender affects early psychomotor milestones and long-term neurodevelopment of preterm infants
2018-01-01 Di Rosa, G; Pironti, E; Cucinotta, F; Alibrandi, A; Gagliano, A
Il Parent Training in età evolutiva
2018-01-01 Persico, Antonio M.; Pironti, Erica; Turriziani, Laura
Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment
2019-01-01 Salpietro, V; Efthymiou, S; Kriouile, Y; El Khorassani, M; Aguennouz, M; Karashova, B; Avdjieva, D; Kathom, H; Tincheva, R; Van Maldergem, L; Nachbauer, W; Boesch, S; Arning, L; Timmann, D; Cormand, B; Pérez-Dueñas, B; Di Rosa, G; Pironti, E; Goraya, Js; Sultan, T; Kirmani, S; Ibrahim, S; Jan, F; Mine, J; Banu, S; Veggiotti, P; Ferrari, Md; Verrotti, A; Marseglia, Gl; Savasta, S; Garavaglia, B; Scuderi, C; Borgione, E; Dipasquale, V; Cutrupi, Mc; Portaro, S; Sanchez, Bm; Pineda-Marfa', M; Munell, F; Macaya, A; Boles, R; Heimer, G; Papacostas, S; Manole, A; Malintan, N; Zanetti, Mn; Hanna, Mg; Rothman, Je; Kullmann, Dm; Houlden, H.
Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment
2019-01-01 Salpietro, Vincenzo; Malintan, Nancy T.; Llano-Rivas, Isabel; Spaeth, Christine G.; Efthymiou, Stephanie; Striano, Pasquale; Vandrovcova, Jana; Cutrupi, Maria C.; Chimenz, Roberto; David, Emanuele; Di Rosa, Gabriella; Marce-Grau, Anna; Raspall-Chaure, Miquel; Martin-Hernandez, Elena; Zara, Federico; Minetti, Carlo; Kriouile, Yamna; El Khorassani, Mohamed; Aguennouz, Mhammed; Karashova, Blagovesta; Avdjieva, Daniela; Kathom, Hadil; Tincheva, Radka; Van Maldergem, Lionel; Nachbauer, Wolfgang; Boesch, Sylvia; Arning, Larissa; Timmann, Dagmar; Cormand, Bru; Pérez-Dueñas, Belen; Pironti, Erica; Goraya, Jatinder S.; Sultan, Tipu; Kirmani, Salman; Ibrahim, Shahnaz; Jan, Farida; Mine, Jun; Banu, Selina; Veggiotti, Pierangelo; Ferrari, Michel D.; Verrotti, Alberto; Marseglia, Gian Luigi; Savasta, Salvatore; Garavaglia, Barbara; Scuderi, Carmela; Borgione, Eugenia; Dipasquale, Valeria; Cutrupi, Maria Concetta; Portaro, Simona; Sanchez, Benigno Monteagudo; Pineda-Marfa, Mercedes; Munell, Francina; Macaya, Alfons; Boles, Richard; Heimer, Gali; Papacostas, Savvas; Manole, Andreea; Malintan, Nancy; Zanetti, Maria Natalia; Hanna, Michael G.; Rothman, James E.; Kullmann, Dimitri M.; Houlden, Henry; Bello, Oscar D.; De Zorzi, Rita; Fortuna, Sara; Dauber, Andrew; Alkhawaja, Mariam; Mankad, Kshitij; Vitobello, Antonio; Thomas, Quentin; Mau-Them, Frederic Tran; Faivre, Laurence; Martinez-Azorin, Francisco; Prada, Carlos E.; Krishnakumar, Shyam S.
Titolo | Data di pubblicazione | Autore(i) | File |
---|---|---|---|
8q22.1 Microduplication Syndrome: Why the Brain Should Be Spared? A Literature Review and a Case Report | 1-gen-2018 | Gagliano, A; Pironti, E; Cucinotta, F; Galati, C; Maggio, R; Alquino, Ma; Di Rosa, G | |
A de novo truncating mutation in ASXL1 associated with segmental overgrowth | 1-gen-2019 | Efthymiou, S; Salpietro, V; Pironti, E; Bonsignore, M; Ferrazzoli, V; Di Rosa, G; Houlden, H | |
A novel SLC1A4 homozygous mutation causing congenital microcephaly, epileptic encephalopathy and spastic tetraparesis: a video-EEG and tractography – case study | 1-gen-2018 | PIRONTI, ERICA; Salpietro, V; Cucinotta, F; Granata, F; Mormina, E; Efthymiou, S; Scuderi, C; Gagliano, A; Houlden, H; Di Rosa, G | |
Aripiprazole-induced Tardive Dyskinesia in 13 Years Old Girl Successfully Treated with Biperiden: A Case Report. | 1-gen-2017 | Lamberti, M; Di Rosa, G; Cucinotta, F; Pironti, E; Galati, C; Gagliano, A. | |
CNTN2 gene: probabile causa di Encefalopatia Epilettica fenotipo Lennox-Gastaut like. | 1-gen-2018 | Prato, A.; Scuderi, A.; Garufi, M.; Pironti, E.; Cucinotta, F.; Lo Re, E.; Calabrò, N.; Spanò, M.; Sgro, D. L.; Gagliano, A. | |
De novo mutation in SLC25A22 gene: expansion of the clinical and electroencephalographic phenotype | 1-gen-2021 | Nicotera, Ag; Dicanio, D; Pironti, E; Bonsignore, M; Cafeo, A; Efthymiou, S; Mondello, P; Salpietro, V; Houlden, H; Di Rosa, G | |
Electroclinical history of a five-year-old girl with GRIN1-related early-onset epileptic encephalopathy: a video-case study | 1-gen-2018 | Pironti, E; Granata, F; Cucinotta, F; Gagliano, A; Efthymiou, S; Houlden, H; Salpietro, V; Di Rosa, G | |
Gender affects early psychomotor milestones and long-term neurodevelopment of preterm infants | 1-gen-2018 | Di Rosa, G; Pironti, E; Cucinotta, F; Alibrandi, A; Gagliano, A | |
Il Parent Training in età evolutiva | 1-gen-2018 | Persico, Antonio M.; Pironti, Erica; Turriziani, Laura | |
Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment | 1-gen-2019 | Salpietro, V; Efthymiou, S; Kriouile, Y; El Khorassani, M; Aguennouz, M; Karashova, B; Avdjieva, D; Kathom, H; Tincheva, R; Van Maldergem, L; Nachbauer, W; Boesch, S; Arning, L; Timmann, D; Cormand, B; Pérez-Dueñas, B; Di Rosa, G; Pironti, E; Goraya, Js; Sultan, T; Kirmani, S; Ibrahim, S; Jan, F; Mine, J; Banu, S; Veggiotti, P; Ferrari, Md; Verrotti, A; Marseglia, Gl; Savasta, S; Garavaglia, B; Scuderi, C; Borgione, E; Dipasquale, V; Cutrupi, Mc; Portaro, S; Sanchez, Bm; Pineda-Marfa', M; Munell, F; Macaya, A; Boles, R; Heimer, G; Papacostas, S; Manole, A; Malintan, N; Zanetti, Mn; Hanna, Mg; Rothman, Je; Kullmann, Dm; Houlden, H. | |
Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment | 1-gen-2019 | Salpietro, Vincenzo; Malintan, Nancy T.; Llano-Rivas, Isabel; Spaeth, Christine G.; Efthymiou, Stephanie; Striano, Pasquale; Vandrovcova, Jana; Cutrupi, Maria C.; Chimenz, Roberto; David, Emanuele; Di Rosa, Gabriella; Marce-Grau, Anna; Raspall-Chaure, Miquel; Martin-Hernandez, Elena; Zara, Federico; Minetti, Carlo; Kriouile, Yamna; El Khorassani, Mohamed; Aguennouz, Mhammed; Karashova, Blagovesta; Avdjieva, Daniela; Kathom, Hadil; Tincheva, Radka; Van Maldergem, Lionel; Nachbauer, Wolfgang; Boesch, Sylvia; Arning, Larissa; Timmann, Dagmar; Cormand, Bru; Pérez-Dueñas, Belen; Pironti, Erica; Goraya, Jatinder S.; Sultan, Tipu; Kirmani, Salman; Ibrahim, Shahnaz; Jan, Farida; Mine, Jun; Banu, Selina; Veggiotti, Pierangelo; Ferrari, Michel D.; Verrotti, Alberto; Marseglia, Gian Luigi; Savasta, Salvatore; Garavaglia, Barbara; Scuderi, Carmela; Borgione, Eugenia; Dipasquale, Valeria; Cutrupi, Maria Concetta; Portaro, Simona; Sanchez, Benigno Monteagudo; Pineda-Marfa, Mercedes; Munell, Francina; Macaya, Alfons; Boles, Richard; Heimer, Gali; Papacostas, Savvas; Manole, Andreea; Malintan, Nancy; Zanetti, Maria Natalia; Hanna, Michael G.; Rothman, James E.; Kullmann, Dimitri M.; Houlden, Henry; Bello, Oscar D.; De Zorzi, Rita; Fortuna, Sara; Dauber, Andrew; Alkhawaja, Mariam; Mankad, Kshitij; Vitobello, Antonio; Thomas, Quentin; Mau-Them, Frederic Tran; Faivre, Laurence; Martinez-Azorin, Francisco; Prada, Carlos E.; Krishnakumar, Shyam S. |