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1دورية أكاديمية
المؤلفون: Cirillo, Emilia, Polizzi, Agata, Soresina, Annarosa, Prencipe, Rosaria, Giardino, Giuliana, Cancrini, Caterina, Finocchi, Andrea, Rivalta, Beatrice, Dellepiane, Rosa M., Baselli, Lucia A., Montin, Davide, Trizzino, Antonino, Consolini, Rita, Azzari, Chiara, Ricci, Silvia, Lodi, Lorenzo, Quinti, Isabella, Milito, Cinzia, Leonardi, Lucia, Duse, Marzia, Carrabba, Maria, Fabio, Giovanna, Bertolini, Patrizia, Coccia, Paola, D’Alba, Irene, Pession, Andrea, Conti, Francesca, Zecca, Marco, Lunardi, Claudio, Bianco, Manuela Lo, Presti, Santiago, Sciuto, Laura, Micheli, Roberto, Bruzzese, Dario, Lougaris, Vassilios, Badolato, Raffaele, Plebani, Alessandro, Chessa, Luciana, Pignata, ClaudioAff1, IDs10875022012344_cor39
المصدر: Journal of Clinical Immunology: International Journal of Inborn Errors of Immunity and Related Diseases. 42(4):783-797
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2دورية أكاديمية
المؤلفون: Falsaperla, RaffaeleAff1, Aff2, Sciuto, LauraAff3, La Spina, Luisa, Sciuto, Sarah, Praticò, Andrea D., Ruggieri, Martino
المصدر: Metabolic Brain Disease. 36(8):2195-2203
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3دورية أكاديمية
المؤلفون: Patanè, Francesca, Pasquetti, Elisa, Sullo, Federica, Tosto, Monica, Sciuto, Laura, Garozzo, Maria Teresa, Praticò, Elena R., Falsaperla, Raffaele
المصدر: Journal of Pediatric Neurology; Aug2023, Vol. 21 Issue 4, p306-311, 6p
مصطلحات موضوعية: EPILEPSY risk factors, BRAIN, GENETIC mutation, BRAIN diseases, INFANTILE spasms, EPILEPSY, RISK assessment, SEIZURES (Medicine), INBORN errors of metabolism, PHENOTYPES, DISEASE risk factors, DISEASE complications, CHILDREN
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4دورية أكاديمية
المؤلفون: Sauna, Alessandra, Sciuto, Laura, Criscione, Roberta, Messina, Giulia, Presti, Santiago, Soma, Rachele, Oliva, Claudia, Salafia, Stefania, Falsaperla, Raffaele
المصدر: Journal of Pediatric Neurology; Aug2023, Vol. 21 Issue 4, p283-291, 9p
مصطلحات موضوعية: GENETIC mutation, GENETICS, NEURONS, EPILEPSY, MOVEMENT disorders, GENETIC testing, GENE expression, SEX distribution, DNA-binding proteins, BRAIN-derived neurotrophic factor, SEIZURES (Medicine), PHENOTYPES, INTELLECTUAL disabilities, RETT syndrome
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5دورية أكاديمية
المؤلفون: Massimino, Carmela Rita, Portale, Laura, Sapuppo, Annamaria, Pizzo, Francesco, Sciuto, Laura, Romano, Catia, Salafia, Stefania, Falsaperla, Raffaele
المصدر: Journal of Pediatric Neurology; Aug2023, Vol. 21 Issue 4, p264-272, 9p
مصطلحات موضوعية: DIAGNOSIS of epilepsy, GENETICS of epilepsy, GENETIC mutation, GENES, GENOTYPES, PHENOTYPES
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6دورية أكاديمية
المؤلفون: Motta, Milena, Consentino, Maria Chiara, Fontana, Alessandra, Sciuto, Laura, Falsaperla, Raffaele, Praticò, Elena R., Salafia, Stefania, Zanghì, Antonio, Praticò, Andrea D.
المصدر: Journal of Pediatric Neurology; Aug2023, Vol. 21 Issue 4, p273-282, 10p
مصطلحات موضوعية: EPILEPSY, HYDROLASES, MUSCLE hypotonia, PHENOTYPES
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7دورية أكاديميةAristaless-Related Homeobox (ARX): Epilepsy Phenotypes beyond Lissencephaly and Brain Malformations.
المؤلفون: Scalia, Bruna, Venti, Valeria, Ciccia, Lina M., Criscione, Roberta, Lo Bianco, Manuela, Sciuto, Laura, Falsaperla, Raffaele, Zanghì, Antonio, Praticò, Andrea D.
المصدر: Journal of Pediatric Neurology; Aug2023, Vol. 21 Issue 4, p320-327, 8p
مصطلحات موضوعية: BRAIN, GENETIC mutation, INFANTILE spasms, EPILEPSY, LISSENCEPHALY, SPASTICITY, TRANSCRIPTION factors, PHENOTYPES, INTELLECTUAL disabilities
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8دورية أكاديمية
المؤلفون: Falsaperla, Raffaele, Sciuto, Sarah, Gioè, Daniela, Sciuto, Laura, Pisani, Francesco, Pavone, Piero, Ruggieri, Martino
المصدر: American Journal of Perinatology; Jun2023, Vol. 40 Issue 8, p833-838, 6p
مصطلحات موضوعية: ONLINE information services, BRAIN, ELECTROENCEPHALOGRAPHY, PREDICTIVE tests, META-analysis, SYSTEMATIC reviews, SEVERITY of illness index, RISK assessment, CHILD psychopathology, BRAIN injuries, MEDLINE, ODDS ratio, DISEASE complications, CHILDREN
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9دورية أكاديمية
المؤلفون: Venti, Valeria, Ciccia, Lina, Scalia, Bruna, Sciuto, Laura, Cimino, Carla, Marino, Simona, Praticò, Andrea D., Falsaperla, Raffaele
المصدر: Journal of Pediatric Neurology; Jun2023, Vol. 21 Issue 3, p197-202, 6p
مصطلحات موضوعية: POTASSIUM metabolism, DIAGNOSIS of epilepsy, KETOGENIC diet, ANTICONVULSANTS, GENETIC mutation, INFANTILE spasms, EPILEPSY, MOVEMENT disorders, POTASSIUM, MUSCLE hypotonia, QUINIDINE, GENOTYPES, OPSOCLONUS-Myoclonus syndrome, INTELLECTUAL disabilities, PHENOTYPES
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10دورية أكاديمية
المؤلفون: Pasquetti, Elisa, Lo Bianco, Manuela, Sullo, Federica, Patanè, Francesca, Sciuto, Laura, Polizzi, Agata, Praticò, Andrea D., Zanghì, Antonio, Falsaperla, Raffaele
المصدر: Journal of Pediatric Neurology; Jun2023, Vol. 21 Issue 3, p168-172, 5p
مصطلحات موضوعية: GENETICS of epilepsy, GENETIC mutation, BRAIN diseases, FEBRILE seizures, SEVERITY of illness index, GENES, MEMBRANE proteins, PHENOTYPES