Sfoglia per Autore
L-serine treatment in patients with GRIN-related encephalopathy: A phase 2A, non-randomized study
2024 Juliá-Palacios, Natalia; Olivella, Mireia; Sigatullina Bondarenko, Mariya; Ibáñez-Micó, Salvador; Muñoz-Cabello, Beatriz; Alonso-Luengo, Olga; Soto-Insuga, Víctor; García-Navas, Deyanira; Cuesta-Herraiz, Laura; Andreo-Lillo, Patricia; Aguilera-Albesa, Sergio; Hedrera-Fernández, Antonio; González Alguacil, Elena; Sánchez-Carpintero, Rocío; Martín Del Valle, Fernando; Jiménez González, Erika; Cean Cabrera, Lourdes; Medina-Rivera, Ines; Perez-Ordoñez, Marta; Colomé, Roser; Lopez, Laura; Engracia Cazorla, María; Fornaguera, Montserrat; Ormazabal, Aida; Alonso-Colmenero, Itziar; Sofía Illescas, Katia; Balsells-Mejía, Sol; Mari-Vico, Rosanna; Duffo Viñas, Maria; Cappuccio, Gerarda; Terrone, Gaetano; Romano, Roberta; Manti, Filippo; Mastrangelo, Mario; Alfonsi, Chiara; de Siqueira Barros, Bruna; Nizon, Mathilde; Elisabeth Gjerulfsen, Cathrine; L Muro, Valeria; Karall, Daniela; Zeiner, Fiona; Masnada, Silvia; Peterlongo, Irene; Oyarzábal, Alfonso; Santos-Gómez, Ana; Altafaj, Xavier; García-Cazorla, Ángeles
Metabolic stroke-like events in a girl with pyruvate dehydrogenase complex deficiency caused by a novel de novo mutation in PDHA1
2024 Fecarotta, Simona; D’Amico, Alessandra; Di Gennaro, Simona; Alagia, Marianna; Rossi, Alessandro; Zuppaldi, Claudia; Parenti, Giancarlo; Terrone, Gaetano
DNA methylation episignature and comparative epigenomic profiling of HNRNPU-related neurodevelopmental disorder
2023 Rooney, Kathleen; van der Laan, Liselot; Trajkova, Slavica; Haghshenas, Sadegheh; Relator, Raissa; Lauffer, Peter; Vos, Niels; Levy, Michael A; Brunetti-Pierri, Nicola; Terrone, Gaetano; Mignot, Cyril; Keren, Boris; Billette de Villemeur, Thierry; Volker-Touw, Catharina M L; Verbeek, Nienke; van der Smagt, Jasper J; Oegema, Renske; Brusco, Alfredo; Ferrero, Giovanni Battista; Misra-Isrie, Mala; Hochstenbach, Ron; Alders, Mariëlle; Mannens, Marcel M A M; Sadikovic, Bekim; van Haelst, Mieke M; Henneman, Peter
Contribution of Genetic Test to Early Diagnosis of Methylenetetrahydrofolate Reductase (MTHFR) Deficiency: The Experience of a Reference Center in Southern Italy
2023 Barretta, Ferdinando; Uomo, Fabiana; Fecarotta, Simona; Albano, Lucia; Crisci, Daniela; Verde, Alessandra; Fisco, Maria Grazia; Gallo, Giovanna; Dottore Stagna, Daniela; Pricolo, Maria Rosaria; Alagia, Marianna; Terrone, Gaetano; Rossi, Alessandro; Parenti, Giancarlo; Ruoppolo, Margherita; Mazzaccara, Cristina; Frisso, Giulia
Respiratory phenotypes of neuromuscular diseases: A challenging issue for pediatricians
2023 Borrelli, Melissa; Terrone, Gaetano; Evangelisti, Roberto; Fedele, Flora; Corcione, Adele; Santamaria, Francesca
A Novel Splicing SCN2A Mutation in an Adolescent With Low-Functioning Autism, Acute Dystonic Movement Disorder, and Late-Onset Generalized Epilepsy
2023 Alagia, Marianna; Fecarotta, Simona; Romano, Alfonso; Parrini, Elena; Auricchio, Gianfranca; Giuseppina Miano, Maria; Terrone, Gaetano
The Evolving Landscape of Therapeutics for Epilepsy in Tuberous Sclerosis Complex
2023 Vitale, Giovanni; Terrone, Gaetano; Vitale, Samuel; Vitulli, Francesca; Aiello, Salvatore; Bravaccio, Carmela; Pisano, Simone; Bove, Ilaria; Rizzo, Francesca; Seetahal-Maraj, Panduranga; Wiese, Thomas
Cholesterol 24-hydroxylase is a novel pharmacological target for anti-ictogenic and disease modification effects in epilepsy
2022 Salamone, Alessia; Terrone, Gaetano; Di Sapia, Rossella; Balosso, Silvia; Ravizza, Teresa; Beltrame, Luca; Craparotta, Ilaria; Mannarino, Laura; Cominesi, Sara Raimondi; Rizzi, Massimo; Pauletti, Alberto; Marchini, Sergio; Porcu, Luca; Zimmer, Till S.; Aronica, Eleonora; During, Matthew; Abrahams, Brett; Kondo, Shinichi; Nishi, Toshiya; Vezzani, Annamaria
COVID-19-associated severe mono-hemispheric encephalitis in a young infant
2022 Nunziata, Francesco; Vassallo, Edoardo; Alessio, Maria; Romano, Alfonso; LO VECCHIO, Andrea; D'Amico, Alessandra; Buono, Giuseppe; Bruzzese, Eugenia; Guarino, Alfredo; Terrone, Gaetano
Mild neurological phenotype in a family carrying a novel N-terminal null GRIN2A variant
2022 DE BERNARDI, MARGHERITA LUCIA; DI STAZIO, Agnese; Romano, Alfonso; Minardi, Raffaella; Bisulli, Francesca; Licchetta, Laura; Aiello, Salvatore; Carelli, Valerio; BRUNETTI PIERRI, Nicola; Cappuccio, Gerarda; Terrone, Gaetano
Bi-allelic loss-of-function variants in PPFIBP1 cause a neurodevelopmental disorder with microcephaly, epilepsy, and periventricular calcifications
2022 Rosenhahn, Erik; J O'Brien, Thomas; S Zaki, Maha; Sorge, Ina; Wieczorek, Dagmar; Rostasy, Kevin; Vitobello, Antonio; Nambot, Sophie; S Alkuraya, Fowzan; O Hashem, Mais; Alhashem, Amal; Tabarki, Brahim; S Alamri, Abdullah; H Al Safar, Ayat; K Bubshait, Dalal; F Alahmady, Nada; G Gleeson, Joseph; S Abdel-Hamid, Mohamed; Lesko, Nicole; Ygberg, Sofia; P Correia, Sandrina; Wredenberg, Anna; Alavi, Shahryar; M Seyedhassani, Seyed; Ebrahimi Nasab, Mahya; Hussien, Haytham; I Omar, Tarek E; Harzallah, Ines; Touraine, Renaud; Tajsharghi, Homa; Morsy, Heba; Houlden, Henry; Shahrooei, Mohammad; Ghavideldarestani, Maryam; H Abdel-Salam, Ghada M; Torella, Annalaura; Zanobio, Mariateresa; Terrone, Gaetano; BRUNETTI PIERRI, Nicola; Omrani, Abdolmajid; Hentschel, Julia; R Lemke, Johannes; Sticht, Heinrich; Abou Jamra, Rami; X Brown, Andre E; Maroofian, Reza; Platzer, Konrad
Electroencephalographic findings in ATRX syndrome: A new case series and review of literature
2022 Aiello, Salvatore; Mancardi, Maria Margherita; Romano, Alfonso; Santucci, Margherita; Scaduto, Maria Cristina; Vari, Maria Stella; Striano, Pasquale; Operto, Francesca Felicia; Elia, Maurizio; Vitiello, Giuseppina; Del Giudice, Ennio; Terrone, Gaetano
Deregulation of microtubule organization and RNA metabolism in Arx models for Lissencephaly and developmental epileptic encephalopathy
2022 Drongitis, Denise; Caterino, Marianna; Verrillo, Lucia; Santonicola, Pamela; Costanzo, Michele; Poeta, Loredana; Attianese, Benedetta; Barra, Adriano; Terrone, Gaetano; Brigida Lioi, Maria; Paladino, Simona; Di Schiavi, Elia; Costa, Valerio; Ruoppolo, Margherita; Giuseppina Miano, Maria
A complicated association between two different genetic rare disorders: Cystic Fibrosis and Spinal Muscular Atrophy
2021 Palma, Marta; Spadarella, Simona; Donnarumma, Bernadette; Zollo, Giada; Nunziata, Francesco; Cimbalo, Chiara; Castaldo, Alice; Buonpensiero, Paolo; Terrone, Gaetano; Varone, Antonio; Tosco, Antonella; Sepe, Angela; Raia, Valeria
Heterozygous KIF1A variants underlie a wide spectrum of neurodevelopmental and neurodegenerative disorders
2021 Nicita, Francesco; Ginevrino, Monia; Travaglini, Lorena; D'Arrigo, Stefano; Zorzi, Giovanna; Borgatti, Renato; Terrone, Gaetano; Catteruccia, Michela; Vasco, Gessica; Brankovic, Vesna; Siliquini, Sabrina; Romano, Silvia; Veredice, Chiara; Pedemonte, Marina; Armando, Michelina; Lettori, Donatella; Stregapede, Fabrizia; Bosco, Luca; Sferra, Antonella; Tessarollo, Valeria; Romaniello, Romina; Ristori, Giovanni; Bertini, Enrico; Valente, ENZA MARIA; Zanni, Ginevra
Cerebellar dentate nuclei swelling: a new and early magnetic resonance imaging finding of beta-propeller protein-associated neurodegeneration
2021 D’Amico, Alessandra; Romano, Alfonso; Parrini, Elena; Ugga &, Lorenzo; Terrone, Gaetano
Dual diagnosis in a child with familial SCN8A-related encephalopathy complicated by a 1p13.2 deletion involving NRAS gene
2021 Alagia, M.; Bernardo, P.; Genesio, R.; Gennaro, E.; Brunetti-Pierri, N.; Coppola, A.; Zara, F.; Striano, P.; Striano, S.; Terrone, G.
Expanding the neurological and behavioral phenotype of White-Sutton syndrome: a case report
2021 Donnarumma, B.; Riccio, M. P.; Terrone, G.; Palma, M.; Strisciuglio, P.; Scala, I.
Low-grade tumour over the left temporal neocortex and ictal asystole: network and surgical implications
2021 Russo, Angelo; Francione, Stefano; Martinoni, Matteo; Zucchelli, Mino; Guerra, Angelo; Terrone, Gaetano; Del Giudice, Ennio; Gobbi, Giuseppe
Inflammation and reactive oxygen species as disease modifiers in epilepsy.
2020 Terrone, G; Balosso, S; Pauletti, A; Ravizza, T; Vezzani, A
| Titolo | Tipologia | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|---|
| L-serine treatment in patients with GRIN-related encephalopathy: A phase 2A, non-randomized study | 1.1 Articolo in rivista | 2024 | Juliá-Palacios, Natalia; Olivella, Mireia; Sigatullina Bondarenko, Mariya; Ibáñez-Micó, Salvador; Muñoz-Cabello, Beatriz; Alonso-Luengo, Olga; Soto-Insuga, Víctor; García-Navas, Deyanira; Cuesta-Herraiz, Laura; Andreo-Lillo, Patricia; Aguilera-Albesa, Sergio; Hedrera-Fernández, Antonio; González Alguacil, Elena; Sánchez-Carpintero, Rocío; Martín Del Valle, Fernando; Jiménez González, Erika; Cean Cabrera, Lourdes; Medina-Rivera, Ines; Perez-Ordoñez, Marta; Colomé, Roser; Lopez, Laura; Engracia Cazorla, María; Fornaguera, Montserrat; Ormazabal, Aida; Alonso-Colmenero, Itziar; Sofía Illescas, Katia; Balsells-Mejía, Sol; Mari-Vico, Rosanna; Duffo Viñas, Maria; Cappuccio, Gerarda; Terrone, Gaetano; Romano, Roberta; Manti, Filippo; Mastrangelo, Mario; Alfonsi, Chiara; de Siqueira Barros, Bruna; Nizon, Mathilde; Elisabeth Gjerulfsen, Cathrine; L Muro, Valeria; Karall, Daniela; Zeiner, Fiona; Masnada, Silvia; Peterlongo, Irene; Oyarzábal, Alfonso; Santos-Gómez, Ana; Altafaj, Xavier; García-Cazorla, Ángeles | |
| Metabolic stroke-like events in a girl with pyruvate dehydrogenase complex deficiency caused by a novel de novo mutation in PDHA1 | 1.1 Articolo in rivista | 2024 | Fecarotta, Simona; D’Amico, Alessandra; Di Gennaro, Simona; Alagia, Marianna; Rossi, Alessandro; Zuppaldi, Claudia; Parenti, Giancarlo; Terrone, Gaetano | |
| DNA methylation episignature and comparative epigenomic profiling of HNRNPU-related neurodevelopmental disorder | 1.1 Articolo in rivista | 2023 | Rooney, Kathleen; van der Laan, Liselot; Trajkova, Slavica; Haghshenas, Sadegheh; Relator, Raissa; Lauffer, Peter; Vos, Niels; Levy, Michael A; Brunetti-Pierri, Nicola; Terrone, Gaetano; Mignot, Cyril; Keren, Boris; Billette de Villemeur, Thierry; Volker-Touw, Catharina M L; Verbeek, Nienke; van der Smagt, Jasper J; Oegema, Renske; Brusco, Alfredo; Ferrero, Giovanni Battista; Misra-Isrie, Mala; Hochstenbach, Ron; Alders, Mariëlle; Mannens, Marcel M A M; Sadikovic, Bekim; van Haelst, Mieke M; Henneman, Peter | |
| Contribution of Genetic Test to Early Diagnosis of Methylenetetrahydrofolate Reductase (MTHFR) Deficiency: The Experience of a Reference Center in Southern Italy | 1.1 Articolo in rivista | 2023 | Barretta, Ferdinando; Uomo, Fabiana; Fecarotta, Simona; Albano, Lucia; Crisci, Daniela; Verde, Alessandra; Fisco, Maria Grazia; Gallo, Giovanna; Dottore Stagna, Daniela; Pricolo, Maria Rosaria; Alagia, Marianna; Terrone, Gaetano; Rossi, Alessandro; Parenti, Giancarlo; Ruoppolo, Margherita; Mazzaccara, Cristina; Frisso, Giulia | |
| Respiratory phenotypes of neuromuscular diseases: A challenging issue for pediatricians | 1.1 Articolo in rivista | 2023 | Borrelli, Melissa; Terrone, Gaetano; Evangelisti, Roberto; Fedele, Flora; Corcione, Adele; Santamaria, Francesca | |
| A Novel Splicing SCN2A Mutation in an Adolescent With Low-Functioning Autism, Acute Dystonic Movement Disorder, and Late-Onset Generalized Epilepsy | 1.1 Articolo in rivista | 2023 | Alagia, Marianna; Fecarotta, Simona; Romano, Alfonso; Parrini, Elena; Auricchio, Gianfranca; Giuseppina Miano, Maria; Terrone, Gaetano | |
| The Evolving Landscape of Therapeutics for Epilepsy in Tuberous Sclerosis Complex | 1.1 Articolo in rivista | 2023 | Vitale, Giovanni; Terrone, Gaetano; Vitale, Samuel; Vitulli, Francesca; Aiello, Salvatore; Bravaccio, Carmela; Pisano, Simone; Bove, Ilaria; Rizzo, Francesca; Seetahal-Maraj, Panduranga; Wiese, Thomas | |
| Cholesterol 24-hydroxylase is a novel pharmacological target for anti-ictogenic and disease modification effects in epilepsy | 1.1 Articolo in rivista | 2022 | Salamone, Alessia; Terrone, Gaetano; Di Sapia, Rossella; Balosso, Silvia; Ravizza, Teresa; Beltrame, Luca; Craparotta, Ilaria; Mannarino, Laura; Cominesi, Sara Raimondi; Rizzi, Massimo; Pauletti, Alberto; Marchini, Sergio; Porcu, Luca; Zimmer, Till S.; Aronica, Eleonora; During, Matthew; Abrahams, Brett; Kondo, Shinichi; Nishi, Toshiya; Vezzani, Annamaria | |
| COVID-19-associated severe mono-hemispheric encephalitis in a young infant | 1.1 Articolo in rivista | 2022 | Nunziata, Francesco; Vassallo, Edoardo; Alessio, Maria; Romano, Alfonso; LO VECCHIO, Andrea; D'Amico, Alessandra; Buono, Giuseppe; Bruzzese, Eugenia; Guarino, Alfredo; Terrone, Gaetano | |
| Mild neurological phenotype in a family carrying a novel N-terminal null GRIN2A variant | 1.1 Articolo in rivista | 2022 | DE BERNARDI, MARGHERITA LUCIA; DI STAZIO, Agnese; Romano, Alfonso; Minardi, Raffaella; Bisulli, Francesca; Licchetta, Laura; Aiello, Salvatore; Carelli, Valerio; BRUNETTI PIERRI, Nicola; Cappuccio, Gerarda; Terrone, Gaetano | |
| Bi-allelic loss-of-function variants in PPFIBP1 cause a neurodevelopmental disorder with microcephaly, epilepsy, and periventricular calcifications | 1.1 Articolo in rivista | 2022 | Rosenhahn, Erik; J O'Brien, Thomas; S Zaki, Maha; Sorge, Ina; Wieczorek, Dagmar; Rostasy, Kevin; Vitobello, Antonio; Nambot, Sophie; S Alkuraya, Fowzan; O Hashem, Mais; Alhashem, Amal; Tabarki, Brahim; S Alamri, Abdullah; H Al Safar, Ayat; K Bubshait, Dalal; F Alahmady, Nada; G Gleeson, Joseph; S Abdel-Hamid, Mohamed; Lesko, Nicole; Ygberg, Sofia; P Correia, Sandrina; Wredenberg, Anna; Alavi, Shahryar; M Seyedhassani, Seyed; Ebrahimi Nasab, Mahya; Hussien, Haytham; I Omar, Tarek E; Harzallah, Ines; Touraine, Renaud; Tajsharghi, Homa; Morsy, Heba; Houlden, Henry; Shahrooei, Mohammad; Ghavideldarestani, Maryam; H Abdel-Salam, Ghada M; Torella, Annalaura; Zanobio, Mariateresa; Terrone, Gaetano; BRUNETTI PIERRI, Nicola; Omrani, Abdolmajid; Hentschel, Julia; R Lemke, Johannes; Sticht, Heinrich; Abou Jamra, Rami; X Brown, Andre E; Maroofian, Reza; Platzer, Konrad | |
| Electroencephalographic findings in ATRX syndrome: A new case series and review of literature | 1.1 Articolo in rivista | 2022 | Aiello, Salvatore; Mancardi, Maria Margherita; Romano, Alfonso; Santucci, Margherita; Scaduto, Maria Cristina; Vari, Maria Stella; Striano, Pasquale; Operto, Francesca Felicia; Elia, Maurizio; Vitiello, Giuseppina; Del Giudice, Ennio; Terrone, Gaetano | |
| Deregulation of microtubule organization and RNA metabolism in Arx models for Lissencephaly and developmental epileptic encephalopathy | 1.1 Articolo in rivista | 2022 | Drongitis, Denise; Caterino, Marianna; Verrillo, Lucia; Santonicola, Pamela; Costanzo, Michele; Poeta, Loredana; Attianese, Benedetta; Barra, Adriano; Terrone, Gaetano; Brigida Lioi, Maria; Paladino, Simona; Di Schiavi, Elia; Costa, Valerio; Ruoppolo, Margherita; Giuseppina Miano, Maria | |
| A complicated association between two different genetic rare disorders: Cystic Fibrosis and Spinal Muscular Atrophy | 1.1 Articolo in rivista | 2021 | Palma, Marta; Spadarella, Simona; Donnarumma, Bernadette; Zollo, Giada; Nunziata, Francesco; Cimbalo, Chiara; Castaldo, Alice; Buonpensiero, Paolo; Terrone, Gaetano; Varone, Antonio; Tosco, Antonella; Sepe, Angela; Raia, Valeria | |
| Heterozygous KIF1A variants underlie a wide spectrum of neurodevelopmental and neurodegenerative disorders | 1.1 Articolo in rivista | 2021 | Nicita, Francesco; Ginevrino, Monia; Travaglini, Lorena; D'Arrigo, Stefano; Zorzi, Giovanna; Borgatti, Renato; Terrone, Gaetano; Catteruccia, Michela; Vasco, Gessica; Brankovic, Vesna; Siliquini, Sabrina; Romano, Silvia; Veredice, Chiara; Pedemonte, Marina; Armando, Michelina; Lettori, Donatella; Stregapede, Fabrizia; Bosco, Luca; Sferra, Antonella; Tessarollo, Valeria; Romaniello, Romina; Ristori, Giovanni; Bertini, Enrico; Valente, ENZA MARIA; Zanni, Ginevra | |
| Cerebellar dentate nuclei swelling: a new and early magnetic resonance imaging finding of beta-propeller protein-associated neurodegeneration | 1.1 Articolo in rivista | 2021 | D’Amico, Alessandra; Romano, Alfonso; Parrini, Elena; Ugga &, Lorenzo; Terrone, Gaetano | |
| Dual diagnosis in a child with familial SCN8A-related encephalopathy complicated by a 1p13.2 deletion involving NRAS gene | 1.1 Articolo in rivista | 2021 | Alagia, M.; Bernardo, P.; Genesio, R.; Gennaro, E.; Brunetti-Pierri, N.; Coppola, A.; Zara, F.; Striano, P.; Striano, S.; Terrone, G. | |
| Expanding the neurological and behavioral phenotype of White-Sutton syndrome: a case report | 1.1 Articolo in rivista | 2021 | Donnarumma, B.; Riccio, M. P.; Terrone, G.; Palma, M.; Strisciuglio, P.; Scala, I. | |
| Low-grade tumour over the left temporal neocortex and ictal asystole: network and surgical implications | 1.1 Articolo in rivista | 2021 | Russo, Angelo; Francione, Stefano; Martinoni, Matteo; Zucchelli, Mino; Guerra, Angelo; Terrone, Gaetano; Del Giudice, Ennio; Gobbi, Giuseppe | |
| Inflammation and reactive oxygen species as disease modifiers in epilepsy. | 1.1 Articolo in rivista | 2020 | Terrone, G; Balosso, S; Pauletti, A; Ravizza, T; Vezzani, A |
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