Are Mutations in the DHRS9 Gene Causally Linked to Epilepsy? A Case Report
2020-01-01 Calì, Francesco; Elia, Maurizio; Vinci, Mirella; Vetri, Luigi; Correnti, Edvige; Trapolino, Emanuele; Roccella, Michele; Vanadia, Francesca; Romano, Valentino
TBC1D24 gene mRNA expression in a boy with early infantile epileptic encephalopathy-16
2017-01-01 Salemi, Michele; Cali', Francesco; Giambirtone, Mariaconcetta; Elia, Maurizio; Romano, Corrado
Sensory Profiles of Children with Autism Spectrum Disorder with and without Feeding Problems: A Comparative Study in Sicilian Subjects
2020-01-01 Panerai, Simonetta; Ferri, Raffaele; Catania, Valentina; Zingale, Marinella; Ruccella, Daniela; Gelardi, Donatella; Fasciana, Daniela; Elia, Maurizio
Cognitive, adaptive, and behavioral effects of adjunctive rufinamide in Lennox–Gastaut syndrome: A prospective observational clinical study
2020-01-01 Operto, Francesca Felicia; Verrotti, Alberto; Marrelli, Alfonso; Ciuffini, Roberta; Coppola, Giangennaro; Pastorino, Grazia Maria Giovanna; Striano, Pasquale; Sole, Michela; Zucca, Claudio; Manfredi, Valentina; Città, Santina; Elia, Maurizio
Targeted re-sequencing in malformations of cortical development: genotype-phenotype correlations
2020-01-01 Accogli, Andrea; Severino, Mariasavina; Riva, Antonella; Madia, Francesca; Balagura, Ganna; Iacomino, Michele; Carlini, Barbara; Baldassari, Simona; Giacomini, Thea; Croci, Carolina; Pisciotta, Livia; Messana, Tullio; Boni, Antonella; Russo, Angelo; Bilo, Leonilda; Tonziello, Rosa; Coppola, Antonietta; Filla, Alessandro; Mecarelli, Oriano; Casalone, Rosario; Pisani, Francesco; Falsaperla, Raffaele; Marino, Silvia; Parisi, Pasquale; Ferretti, Alessandro; Elia, Maurizio; Luchetti, Anna; Milani, Donatella; Vanadia, Francesca; Silvestri, Laura; Rebessi, Erika; Parente, Eliana; Vatti, Giampaolo; Mancardi, Maria Margherita; Nobili, Lino; Capra, Valeria; Salpietro, Vincenzo; Striano, Pasquale; Zara, Federico
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders
2020-01-01 Wang, Tianyun; Hoekzema, Kendra; Vecchio, Davide; Wu, Huidan; Sulovari, Arvis; Coe, Bradley P.; Gillentine, Madelyn A.; Wilfert, Amy B.; Perez-Jurado, Luis A.; Kvarnung, Malin; Sleyp, Yoeri; Earl, Rachel K.; Rosenfeld, Jill A.; Geisheker, Madeleine R.; Han, Lin; Du, Bing; Barnett, Chris; Thompson, Elizabeth; Shaw, Marie; Carroll, Renee; Friend, Kathryn; Catford, Rachael; Palmer, Elizabeth E.; Zou, Xiaobing; Ou, Jianjun; Li, Honghui; Guo, Hui; Gerdts, Jennifer; Avola, Emanuela; Calabrese, G; Elia, Maurizio; Greco, Donatella; Lindstrand, Anna; Nordgren, Ann; Anderlid, Britt-Marie; Vandeweyer, Geert; Van Dijck, Anke; Van Der Aa, Nathalie; Mckenna, Brooke; Hancarova, Miroslava; Bendova, Sarka; Havlovicova, Marketa; Malerba, Giovanni; Bernardina, Bernardo Dalla; Muglia, Pierandrea; Van Haeringen, Arie; Hoffer, Mariette J. V.; Franke, Barbara; Cappuccio, Gerarda; Delatycki, Martin; Lockhart, Paul J.; Manning, Melanie A.; Liu, Pengfei; Scheffer, Ingrid E.; Brunetti-Pierri, Nicola; Rommelse, Nanda; Amaral, David G.; Santen, Gijs W. E.; Trabetti, Elisabetta; Sedláček, Zdeněk; Michaelson, Jacob J.; Pierce, Karen; Courchesne, Eric; Kooy, R. Frank; Null, Null; Acampado, John; Ace, Andrea J.; Amatya, Alpha; Astrovskaya, Irina; Bashar, Asif; Brooks, Elizabeth; Butler, Martin E.; Cartner, Lindsey A.; Chin, Wubin; Chung, Wendy K.; Daniels, Amy M.; Feliciano, Pamela; Fleisch, Chris; Ganesan, Swami; Jensen, William; Lash, Alex E.; Marini, Richard; Myers, Vincent J.; O'Connor, Eirene; Rigby, Chris; Robertson, Beverly E.; Shah, Neelay; Shah, Swapnil; Singer, Emily; Snyder, Leeanne G.; Stephens, Alexandra N.; Tjernagel, Jennifer; Vernoia, Brianna M.; Volfovsky, Natalia; White, Loran Casey; Hsieh, Alexander; Shen, Yufeng; Zhou, Xueya; Turner, Tychele N.; Bahl, Ethan; Thomas, Taylor R.; Brueggeman, Leo; Koomar, Tanner; Michaelson, Jacob J.; O'Roak, Brian J.; Barnard, Rebecca A.; Gibbs, Richard A.; Muzny, Donna; Sabo, Aniko; Ahmed, Kelli L. Baalman; Eichler, Evan E.; Siegel, Matthew; Abbeduto, Leonard; Amaral, David G.; Hilscher, Brittani A.; Li, Deana; Smith, Kaitlin; Thompson, Samantha; Albright, Charles; Butter, Eric M.; Eldred, Sara; Hanna, Nathan; Jones, Mark; Coury, Daniel Lee; Scherr, Jessica; Pifher, Taylor; Roby, Erin; Dennis, Brandy; Higgins, Lorrin; Brown, Melissa; Alessandri, Michael; Gutierrez, Anibal; Hale, Melissa N.; Herbert, Lynette M.; Schneider, Hoa Lam; David, Giancarla; Annett, Robert D.; Sarver, Dustin E.; Arriaga, Ivette; Camba, Alexies; Gulsrud, Amanda C.; Haley, Monica; Mccracken, James T.; Sandhu, Sophia; Tafolla, Maira; Yang, Wha S.; Carpenter, Laura A.; Bradley, Catherine C.; Gwynette, Frampton; Manning, Patricia; Shaffer, Rebecca; Thomas, Carrie; Bernier, Raphael A.; Fox, Emily A.; Gerdts, Jennifer A.; Pepper, Micah; Ho, Theodore; Cho, Daniel; Piven, Joseph; Lechniak, Holly; Soorya, Latha V.; Gordon, Rachel; Wainer, Allison; Yeh, Lisa; Ochoa-Lubinoff, Cesar; Russo, Nicole; Berry-Kravis, Elizabeth; Booker, Stephanie; Erickson, Craig A.; Prock, Lisa M.; Pawlowski, Katherine G.; Matthews, Emily T.; Brewster, Stephanie J.; Hojlo, Margaret A.; Abada, Evi; Lamarche, Elena; Wang, Tianyun; Murali, Shwetha C.; Harvey, William T.; Kaplan, Hannah E.; Pierce, Karen L.; Demarco, Lindsey; Horner, Susannah; Pandey, Juhi; Plate, Samantha; Sahin, Mustafa; Riley, Katherine D.; Carmody, Erin; Constantini, Julia; Esler, Amy; Fatemi, Ali; Hutter, Hanna; Landa, Rebecca J.; Mckenzie, Alexander P.; Neely, Jason; Singh, Vini; Van Metre, Bonnie; Wodka, Ericka L.; Fombonne, Eric J.; Huang-Storms, Lark Y.; Pacheco, Lillian D.; Mastel, Sarah A.; Coppola, Leigh A.; Francis, Sunday; Jarrett, Andrea; Jacob, Suma; Lillie, Natasha; Gunderson, Jaclyn; Istephanous, Dalia; Simon, Laura; Wasserberg, Ori; Rachubinski, Angela L.; Rosenberg, Cordelia R.; Kanne, Stephen M.; Shocklee, Amanda D.; Takahashi, Nicole; Bridwell, Shelby L.; Klimczac, Rebecca L.; Mahurin, Melissa A.; Cotrell, Hannah E.; Grant, Cortaiga A.; Hunter, Samantha G.; Martin, Christa Lese; Taylor, Cora M.; Walsh, Lauren K.; Dent, Katherine A.; Mason, Andrew; Sziklay, Anthony; Smith, Christopher J.; Nordenskjöld, Magnus; Romano, Corrado; Peeters, Hilde; Bernier, Raphael A.; Gecz, Jozef; Xia, Kun; Eichler, Evan E.
A de novo heterozygous mutation in KCNC2 gene implicated in severe developmental and epileptic encephalopathy
2020-01-01 Vetri, Luigi; Calì, Francesco; Vinci, Mirella; Amato, Carmelo; Roccella, Michele; Granata, Tiziana; Freri, Elena; Solazzi, Roberta; Romano, Valentino; Elia, Maurizio
Perampanel tolerability in children and adolescents with focal epilepsy: Effects on behavior and executive functions
2020-01-01 Operto, Francesca Felicia; Pastorino, Grazia Maria Giovanna; Mazza, Roberta; Di Bonaventura, Carlo; Matricardi, Sara; Verrotti, Alberto; Carotenuto, Marco; Viggiano, Andrea; Coppola, Giangennaro; Elia, Maurizio
Advances in genetic testing and optimization of clinical management in children and adults with epilepsy
2020-01-01 Scala, Marcello; Bianchi, Amedeo; Bisulli, Francesca; Coppola, Antonietta; Elia, Maurizio; Trivisano, Marina; Pruna, Dario; Pippucci, Tommaso; Canafoglia, Laura; Lattanzi, Simona; Franceschetti, Silvana; Nobile, Carlo; Gambardella, Antonio; Michelucci, Roberto; Zara, Federico; Striano, Pasquale
A validation study of the clinical diagnosis of Dup15q syndrome: Which symptoms matter most?
2020-01-01 Beghi, E.; Giussani, G.; Bianchi, E.; Randazzo, G.; Sarcona, V.; Elia, M.; Striano, P.; Verrotti, A.; Ferretti, A.; Rebessi, E.; Specchio, N.; Bonanni, P.
The management of epilepsy in clinical practice: Do the needs manifested by the patients correspond to the priorities of the caring physicians? Findings from the EPINEEDS Study
2020-01-01 Giussani, Giorgia; Enia, Gabriele; Bianchi, Elisa; Mecarelli, Oriano; Beghi, Ettore; Pulitano, Patrizia; Cagnetti, Claudia; Baldinelli, Sara; Lattanzi, Simona; La Neve, Angela; Tappatà, Maria; Francavilla, Teresa; De Maria, Giovanni; Sofia, Vito; Giuliano, Loretta; Mainieri, Greta; Fatuzzo, Daniela; Belcastro, Vincenzo; Elia, Maurizio; D'Orsi, Giuseppe; Lalla, Alessandra; Salmaggi, Andrea; Brigo, Francesco; Magaudda, Adriana; Pisani, Francesco; Galletta, Santi; Pisani, Laura R.; Raffaele, Massimo; Cosenza, Domenico; Villani, Flavio S.; Quintas, Rui M. M.; Cervellione, Rosa; Borroni, Simona; Meletti, Stefano; Ferrarese, Carlo; Barbella, Giuseppina; Di Francesco, Jacopo; Bogliun, Graziella; Beretta, Simone; Galimberti, Carlo A.; Cantisani, Teresa A.; Cecconi, Michela; Celani, Maria G.; Papetti, Rossella; Giorgi, Filippo S.; Aguglia, Umberto; Gasparini, Sara; Ferlazzo, Edoardo; Manganotti, Paolo; Crichiutti, Giovanni; Bravar, Giulia
Early results from a combined low-intensive psychoeducational intervention for preschoolers with autism spectrum disorder
2020-01-01 Panerai, Simonetta; Suraniti, Grazia S.; Catania, Valentina; Zingale, Marinella; Ferri, Raffaele; Raggi, Alberto; Trubia, Grazia; Elia, Maurizio
Connectivity measures suggest a sub-cortical generator of myoclonus in Angelman syndrome
2019-01-01 Ferlazzo, Edoardo; Franceschetti, Silvana; Gasparini, Sara; Elia, Maurizio; Canafoglia, Laura; Pantaleoni, Chiara; Ascoli, Michele; D'Agostino, Tiziana; Sueri, Chiara; Ferrigno, Giulia; Panzica, Ferruccio; Cianci, Vittoria; Aguglia, Umberto
Eyelid myoclonia with absences: Electroclinical features and prognostic factors
2019-01-01 Giuliano, Loretta; Fatuzzo, Daniela; Mainieri, Greta; Maira, Giulia; Elia, Maurizio; Ferlazzo, Edoardo; Gasparini, Sara; Nicoletti, Alessandra; Sofia, Vito; Zappia, Mario
Reevaluating Usher Syndrome: Transitioning from traditional subtypes to precision diagnosis
2025-01-01 Zeppieri, Marco; Musa, Mutali; Francesca Cordeiro, M.; Gagliano, Caterina; D’Esposito, Fabiana
Phenotypic and functional characteristics of pituitary adenoma stem cells
2025-01-01 Agosti, Edoardo; Gelmini, Lorenzo; Paolo Panciani, Pier; Fiorindi, Alessandro; Maria Fontanella, Marco; Tengattini, Francesco; Denaro, Luca; Gagliano, Caterina; Tognetto And Marco Zeppieri, Daniele
Applications of Artificial Intelligence in the Study and Diagnosis of Orbital Patologies: State of the Art and Future Directions
2025-01-01 Michelutti, Luca; Tel, Alessandro; Robiony, Massimo; Agosti, Edoardo; Ius, Tamara; Catapano, Giuseppe; Gagliano, Caterina; Zeppieri, Marco
Five Years After the COVID-19 Pandemic: Old Problems and New Challenges in Forensic Pathology
2025-01-01 Chisari, M.; Francaviglia, M.; Franco, S.; Volonnino, G.; Rinaldi, R.; Di Fazio, N.; Di Mauro, L.
Legume Cowpea Leaves Classification for Crop Phenotyping Using Deep Learning and Big Data
2025-01-01 Choudhary, Vijaya; Guha, Paramita; Pau, Giovanni
Interplay Between Childhood Maltreatment, Subclinical Post‐Traumatic Stress Symptoms, and IQ: Findings From the EU‐GEI Multicentre Case–Control Study
2025-01-01 Sideli, Lucia; Aas, Monica; Alameda, Luis; Trotta, Giulia; La Barbera, Daniele; La Cascia, Caterina; Ferraro, Laura; Velthorst, Eva; Tripoli, Giada; Schimmenti, Adriano; Fontana, Andrea; Quattrone, Diego; Gayer‐anderson, Charlotte; Rodriguez, Victoria; Spinazzola, Edoardo; Stilo, Simona; Seminerio, Fabio; Sartorio, Crocettarachele; Marrazzo, Giovanna; Lasalvia, Antonio; Tosato, Sarah; Tarricone, Ilaria; D'Andrea, Giuseppe; Null, Null; Arango, Celso; Arrojo, Manuel; Bernardo, Miguel; Bobes, Julio; Sanjuán, Julio; Santos, Jose Luis; Menezes, Paulo Rossi; Del‐ben, Cristina Marta; Jongsma, Hannah E.; Jones, Peter B.; Kirkbride, James B.; Llorca, Pierre‐michel; Tortelli, Andrea; Pignon, Baptiste; De Haan, Lieuwe; Selten, Jean‐paul; Van Os, Jim; Rutten, Bart P.; Di Forti, Marta; Murray, Robin M.; Morgan, Craig; Fisher, Helen L.
Titolo | Data di pubblicazione | Autore(i) | File |
---|---|---|---|
Are Mutations in the DHRS9 Gene Causally Linked to Epilepsy? A Case Report | 1-gen-2020 | Calì, Francesco; Elia, Maurizio; Vinci, Mirella; Vetri, Luigi; Correnti, Edvige; Trapolino, Emanuele; Roccella, Michele; Vanadia, Francesca; Romano, Valentino | |
TBC1D24 gene mRNA expression in a boy with early infantile epileptic encephalopathy-16 | 1-gen-2017 | Salemi, Michele; Cali', Francesco; Giambirtone, Mariaconcetta; Elia, Maurizio; Romano, Corrado | |
Sensory Profiles of Children with Autism Spectrum Disorder with and without Feeding Problems: A Comparative Study in Sicilian Subjects | 1-gen-2020 | Panerai, Simonetta; Ferri, Raffaele; Catania, Valentina; Zingale, Marinella; Ruccella, Daniela; Gelardi, Donatella; Fasciana, Daniela; Elia, Maurizio | |
Cognitive, adaptive, and behavioral effects of adjunctive rufinamide in Lennox–Gastaut syndrome: A prospective observational clinical study | 1-gen-2020 | Operto, Francesca Felicia; Verrotti, Alberto; Marrelli, Alfonso; Ciuffini, Roberta; Coppola, Giangennaro; Pastorino, Grazia Maria Giovanna; Striano, Pasquale; Sole, Michela; Zucca, Claudio; Manfredi, Valentina; Città, Santina; Elia, Maurizio | |
Targeted re-sequencing in malformations of cortical development: genotype-phenotype correlations | 1-gen-2020 | Accogli, Andrea; Severino, Mariasavina; Riva, Antonella; Madia, Francesca; Balagura, Ganna; Iacomino, Michele; Carlini, Barbara; Baldassari, Simona; Giacomini, Thea; Croci, Carolina; Pisciotta, Livia; Messana, Tullio; Boni, Antonella; Russo, Angelo; Bilo, Leonilda; Tonziello, Rosa; Coppola, Antonietta; Filla, Alessandro; Mecarelli, Oriano; Casalone, Rosario; Pisani, Francesco; Falsaperla, Raffaele; Marino, Silvia; Parisi, Pasquale; Ferretti, Alessandro; Elia, Maurizio; Luchetti, Anna; Milani, Donatella; Vanadia, Francesca; Silvestri, Laura; Rebessi, Erika; Parente, Eliana; Vatti, Giampaolo; Mancardi, Maria Margherita; Nobili, Lino; Capra, Valeria; Salpietro, Vincenzo; Striano, Pasquale; Zara, Federico | |
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders | 1-gen-2020 | Wang, Tianyun; Hoekzema, Kendra; Vecchio, Davide; Wu, Huidan; Sulovari, Arvis; Coe, Bradley P.; Gillentine, Madelyn A.; Wilfert, Amy B.; Perez-Jurado, Luis A.; Kvarnung, Malin; Sleyp, Yoeri; Earl, Rachel K.; Rosenfeld, Jill A.; Geisheker, Madeleine R.; Han, Lin; Du, Bing; Barnett, Chris; Thompson, Elizabeth; Shaw, Marie; Carroll, Renee; Friend, Kathryn; Catford, Rachael; Palmer, Elizabeth E.; Zou, Xiaobing; Ou, Jianjun; Li, Honghui; Guo, Hui; Gerdts, Jennifer; Avola, Emanuela; Calabrese, G; Elia, Maurizio; Greco, Donatella; Lindstrand, Anna; Nordgren, Ann; Anderlid, Britt-Marie; Vandeweyer, Geert; Van Dijck, Anke; Van Der Aa, Nathalie; Mckenna, Brooke; Hancarova, Miroslava; Bendova, Sarka; Havlovicova, Marketa; Malerba, Giovanni; Bernardina, Bernardo Dalla; Muglia, Pierandrea; Van Haeringen, Arie; Hoffer, Mariette J. V.; Franke, Barbara; Cappuccio, Gerarda; Delatycki, Martin; Lockhart, Paul J.; Manning, Melanie A.; Liu, Pengfei; Scheffer, Ingrid E.; Brunetti-Pierri, Nicola; Rommelse, Nanda; Amaral, David G.; Santen, Gijs W. E.; Trabetti, Elisabetta; Sedláček, Zdeněk; Michaelson, Jacob J.; Pierce, Karen; Courchesne, Eric; Kooy, R. Frank; Null, Null; Acampado, John; Ace, Andrea J.; Amatya, Alpha; Astrovskaya, Irina; Bashar, Asif; Brooks, Elizabeth; Butler, Martin E.; Cartner, Lindsey A.; Chin, Wubin; Chung, Wendy K.; Daniels, Amy M.; Feliciano, Pamela; Fleisch, Chris; Ganesan, Swami; Jensen, William; Lash, Alex E.; Marini, Richard; Myers, Vincent J.; O'Connor, Eirene; Rigby, Chris; Robertson, Beverly E.; Shah, Neelay; Shah, Swapnil; Singer, Emily; Snyder, Leeanne G.; Stephens, Alexandra N.; Tjernagel, Jennifer; Vernoia, Brianna M.; Volfovsky, Natalia; White, Loran Casey; Hsieh, Alexander; Shen, Yufeng; Zhou, Xueya; Turner, Tychele N.; Bahl, Ethan; Thomas, Taylor R.; Brueggeman, Leo; Koomar, Tanner; Michaelson, Jacob J.; O'Roak, Brian J.; Barnard, Rebecca A.; Gibbs, Richard A.; Muzny, Donna; Sabo, Aniko; Ahmed, Kelli L. Baalman; Eichler, Evan E.; Siegel, Matthew; Abbeduto, Leonard; Amaral, David G.; Hilscher, Brittani A.; Li, Deana; Smith, Kaitlin; Thompson, Samantha; Albright, Charles; Butter, Eric M.; Eldred, Sara; Hanna, Nathan; Jones, Mark; Coury, Daniel Lee; Scherr, Jessica; Pifher, Taylor; Roby, Erin; Dennis, Brandy; Higgins, Lorrin; Brown, Melissa; Alessandri, Michael; Gutierrez, Anibal; Hale, Melissa N.; Herbert, Lynette M.; Schneider, Hoa Lam; David, Giancarla; Annett, Robert D.; Sarver, Dustin E.; Arriaga, Ivette; Camba, Alexies; Gulsrud, Amanda C.; Haley, Monica; Mccracken, James T.; Sandhu, Sophia; Tafolla, Maira; Yang, Wha S.; Carpenter, Laura A.; Bradley, Catherine C.; Gwynette, Frampton; Manning, Patricia; Shaffer, Rebecca; Thomas, Carrie; Bernier, Raphael A.; Fox, Emily A.; Gerdts, Jennifer A.; Pepper, Micah; Ho, Theodore; Cho, Daniel; Piven, Joseph; Lechniak, Holly; Soorya, Latha V.; Gordon, Rachel; Wainer, Allison; Yeh, Lisa; Ochoa-Lubinoff, Cesar; Russo, Nicole; Berry-Kravis, Elizabeth; Booker, Stephanie; Erickson, Craig A.; Prock, Lisa M.; Pawlowski, Katherine G.; Matthews, Emily T.; Brewster, Stephanie J.; Hojlo, Margaret A.; Abada, Evi; Lamarche, Elena; Wang, Tianyun; Murali, Shwetha C.; Harvey, William T.; Kaplan, Hannah E.; Pierce, Karen L.; Demarco, Lindsey; Horner, Susannah; Pandey, Juhi; Plate, Samantha; Sahin, Mustafa; Riley, Katherine D.; Carmody, Erin; Constantini, Julia; Esler, Amy; Fatemi, Ali; Hutter, Hanna; Landa, Rebecca J.; Mckenzie, Alexander P.; Neely, Jason; Singh, Vini; Van Metre, Bonnie; Wodka, Ericka L.; Fombonne, Eric J.; Huang-Storms, Lark Y.; Pacheco, Lillian D.; Mastel, Sarah A.; Coppola, Leigh A.; Francis, Sunday; Jarrett, Andrea; Jacob, Suma; Lillie, Natasha; Gunderson, Jaclyn; Istephanous, Dalia; Simon, Laura; Wasserberg, Ori; Rachubinski, Angela L.; Rosenberg, Cordelia R.; Kanne, Stephen M.; Shocklee, Amanda D.; Takahashi, Nicole; Bridwell, Shelby L.; Klimczac, Rebecca L.; Mahurin, Melissa A.; Cotrell, Hannah E.; Grant, Cortaiga A.; Hunter, Samantha G.; Martin, Christa Lese; Taylor, Cora M.; Walsh, Lauren K.; Dent, Katherine A.; Mason, Andrew; Sziklay, Anthony; Smith, Christopher J.; Nordenskjöld, Magnus; Romano, Corrado; Peeters, Hilde; Bernier, Raphael A.; Gecz, Jozef; Xia, Kun; Eichler, Evan E. | |
A de novo heterozygous mutation in KCNC2 gene implicated in severe developmental and epileptic encephalopathy | 1-gen-2020 | Vetri, Luigi; Calì, Francesco; Vinci, Mirella; Amato, Carmelo; Roccella, Michele; Granata, Tiziana; Freri, Elena; Solazzi, Roberta; Romano, Valentino; Elia, Maurizio | |
Perampanel tolerability in children and adolescents with focal epilepsy: Effects on behavior and executive functions | 1-gen-2020 | Operto, Francesca Felicia; Pastorino, Grazia Maria Giovanna; Mazza, Roberta; Di Bonaventura, Carlo; Matricardi, Sara; Verrotti, Alberto; Carotenuto, Marco; Viggiano, Andrea; Coppola, Giangennaro; Elia, Maurizio | |
Advances in genetic testing and optimization of clinical management in children and adults with epilepsy | 1-gen-2020 | Scala, Marcello; Bianchi, Amedeo; Bisulli, Francesca; Coppola, Antonietta; Elia, Maurizio; Trivisano, Marina; Pruna, Dario; Pippucci, Tommaso; Canafoglia, Laura; Lattanzi, Simona; Franceschetti, Silvana; Nobile, Carlo; Gambardella, Antonio; Michelucci, Roberto; Zara, Federico; Striano, Pasquale | |
A validation study of the clinical diagnosis of Dup15q syndrome: Which symptoms matter most? | 1-gen-2020 | Beghi, E.; Giussani, G.; Bianchi, E.; Randazzo, G.; Sarcona, V.; Elia, M.; Striano, P.; Verrotti, A.; Ferretti, A.; Rebessi, E.; Specchio, N.; Bonanni, P. | |
The management of epilepsy in clinical practice: Do the needs manifested by the patients correspond to the priorities of the caring physicians? Findings from the EPINEEDS Study | 1-gen-2020 | Giussani, Giorgia; Enia, Gabriele; Bianchi, Elisa; Mecarelli, Oriano; Beghi, Ettore; Pulitano, Patrizia; Cagnetti, Claudia; Baldinelli, Sara; Lattanzi, Simona; La Neve, Angela; Tappatà, Maria; Francavilla, Teresa; De Maria, Giovanni; Sofia, Vito; Giuliano, Loretta; Mainieri, Greta; Fatuzzo, Daniela; Belcastro, Vincenzo; Elia, Maurizio; D'Orsi, Giuseppe; Lalla, Alessandra; Salmaggi, Andrea; Brigo, Francesco; Magaudda, Adriana; Pisani, Francesco; Galletta, Santi; Pisani, Laura R.; Raffaele, Massimo; Cosenza, Domenico; Villani, Flavio S.; Quintas, Rui M. M.; Cervellione, Rosa; Borroni, Simona; Meletti, Stefano; Ferrarese, Carlo; Barbella, Giuseppina; Di Francesco, Jacopo; Bogliun, Graziella; Beretta, Simone; Galimberti, Carlo A.; Cantisani, Teresa A.; Cecconi, Michela; Celani, Maria G.; Papetti, Rossella; Giorgi, Filippo S.; Aguglia, Umberto; Gasparini, Sara; Ferlazzo, Edoardo; Manganotti, Paolo; Crichiutti, Giovanni; Bravar, Giulia | |
Early results from a combined low-intensive psychoeducational intervention for preschoolers with autism spectrum disorder | 1-gen-2020 | Panerai, Simonetta; Suraniti, Grazia S.; Catania, Valentina; Zingale, Marinella; Ferri, Raffaele; Raggi, Alberto; Trubia, Grazia; Elia, Maurizio | |
Connectivity measures suggest a sub-cortical generator of myoclonus in Angelman syndrome | 1-gen-2019 | Ferlazzo, Edoardo; Franceschetti, Silvana; Gasparini, Sara; Elia, Maurizio; Canafoglia, Laura; Pantaleoni, Chiara; Ascoli, Michele; D'Agostino, Tiziana; Sueri, Chiara; Ferrigno, Giulia; Panzica, Ferruccio; Cianci, Vittoria; Aguglia, Umberto | |
Eyelid myoclonia with absences: Electroclinical features and prognostic factors | 1-gen-2019 | Giuliano, Loretta; Fatuzzo, Daniela; Mainieri, Greta; Maira, Giulia; Elia, Maurizio; Ferlazzo, Edoardo; Gasparini, Sara; Nicoletti, Alessandra; Sofia, Vito; Zappia, Mario | |
Reevaluating Usher Syndrome: Transitioning from traditional subtypes to precision diagnosis | 1-gen-2025 | Zeppieri, Marco; Musa, Mutali; Francesca Cordeiro, M.; Gagliano, Caterina; D’Esposito, Fabiana | |
Phenotypic and functional characteristics of pituitary adenoma stem cells | 1-gen-2025 | Agosti, Edoardo; Gelmini, Lorenzo; Paolo Panciani, Pier; Fiorindi, Alessandro; Maria Fontanella, Marco; Tengattini, Francesco; Denaro, Luca; Gagliano, Caterina; Tognetto And Marco Zeppieri, Daniele | |
Applications of Artificial Intelligence in the Study and Diagnosis of Orbital Patologies: State of the Art and Future Directions | 1-gen-2025 | Michelutti, Luca; Tel, Alessandro; Robiony, Massimo; Agosti, Edoardo; Ius, Tamara; Catapano, Giuseppe; Gagliano, Caterina; Zeppieri, Marco | |
Five Years After the COVID-19 Pandemic: Old Problems and New Challenges in Forensic Pathology | 1-gen-2025 | Chisari, M.; Francaviglia, M.; Franco, S.; Volonnino, G.; Rinaldi, R.; Di Fazio, N.; Di Mauro, L. | |
Legume Cowpea Leaves Classification for Crop Phenotyping Using Deep Learning and Big Data | 1-gen-2025 | Choudhary, Vijaya; Guha, Paramita; Pau, Giovanni | |
Interplay Between Childhood Maltreatment, Subclinical Post‐Traumatic Stress Symptoms, and IQ: Findings From the EU‐GEI Multicentre Case–Control Study | 1-gen-2025 | Sideli, Lucia; Aas, Monica; Alameda, Luis; Trotta, Giulia; La Barbera, Daniele; La Cascia, Caterina; Ferraro, Laura; Velthorst, Eva; Tripoli, Giada; Schimmenti, Adriano; Fontana, Andrea; Quattrone, Diego; Gayer‐anderson, Charlotte; Rodriguez, Victoria; Spinazzola, Edoardo; Stilo, Simona; Seminerio, Fabio; Sartorio, Crocettarachele; Marrazzo, Giovanna; Lasalvia, Antonio; Tosato, Sarah; Tarricone, Ilaria; D'Andrea, Giuseppe; Null, Null; Arango, Celso; Arrojo, Manuel; Bernardo, Miguel; Bobes, Julio; Sanjuán, Julio; Santos, Jose Luis; Menezes, Paulo Rossi; Del‐ben, Cristina Marta; Jongsma, Hannah E.; Jones, Peter B.; Kirkbride, James B.; Llorca, Pierre‐michel; Tortelli, Andrea; Pignon, Baptiste; De Haan, Lieuwe; Selten, Jean‐paul; Van Os, Jim; Rutten, Bart P.; Di Forti, Marta; Murray, Robin M.; Morgan, Craig; Fisher, Helen L. |
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- 1 Contributo su Rivista13383
- 2 Contributo in Volume1
- 4 Contributo in Atti di Convegno ...1
Data di pubblicazione
- In corso di stampa16
- 2020 - 20255658
- 2010 - 20195420
- 2000 - 20091818
- 1990 - 1999416
- 1980 - 198956
- 1979 - 19791
Editore
- Trans Tech Publications1
Rivista
- INTERNATIONAL JOURNAL OF MOLECULA...156
- JOURNAL OF CLINICAL MEDICINE112
- INTERNATIONAL JOURNAL OF ENVIRONM...106
- CANCERS101
- LNS. ACTIVITY REPORT85
- PHD KORE REVIEW78
- RIVISTA DELLA COOPERAZIONE GIURID...72
- DIAGNOSTICS70
- SUSTAINABILITY65
- JACC: CARDIOVASCULAR INTERVENTIONS60
Serie
- ADVANCED MATERIALS RESEARCH1
- WORKING PAPERS RES1
Keyword
- COVID-19220
- Humans212
- Female111
- Male107
- SARS-CoV-292
- Italy66
- Epilepsy62
- inflammation61
- Adult52
- Middle Aged51
Lingua
- eng9404
- ita2420
- fre66
- spa61
- lat12
- ger9
- por6
- ara3
- cat3
- enm2
Accesso al fulltext
- no fulltext13385