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G

Gaetano Terrone

university of naples federico ii
H指数:22
被引数:2,091

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Reanalysis of Undiagnosed Neurodevelopmental Disorder Cases: From RNU4-2 Variants to Clinical Phenotypes
NEUROLOGY-GENETICS
IF3.7
2025-12-011
PRE
Di Letto, Pasquale; De Leonibus, Chiara; Palmieri, Francesca Pia; Zanobio, Mariateresa; Scarpato, Margherita; Cetrangolo, Viviana; Rahman, Sarah Iffat; Selicorni, Angelo; Mariani, Milena; D'Arrigo, Stefano; Ciaccio, Claudia; Milani, Donatella; Ajmone, Paola Francesca; Morleo, Manuela; Spampanato, Carmine; Piluso, Giulio; Zollino, Marcella; L'Erario, Federica Francesca; Greco, Donatella; Capra, Valeria; Scala, Marcello; Romano, Ferruccio; Terrone, Gaetano; De Falco, Alessandro; Paolella, Chiara; Mastrangelo, Mario; Ricciardi, Giacomina; Brunetti-Pierri, Nicola; Nigro, Vincenzo; Torella, Annalaura
A novel pathogenic variant causing POU3F3-related neurodevelopmental disorder in a child presenting with infantile epileptic spasms syndrome: Expanding the epileptic phenotype

一种新型致病变异导致POU3F3相关神经发育障碍，该患儿表现为婴儿癫痫性痉挛综合征：扩展癫痫表型

seizure european journal of epilepsy
IF0
2025-05-310
PRE
Gaetano Terrone; Emilia Cirillo; Francesca Ripoli; Selene Votta; Maria Francesca Fiorile; Salvatore Aiello; Chiara Paolella; Immacolata Andolfo; Roberta Russo; Carmela Bravaccio
Deletion Testing of the DEGS1 Gene Should Be Part of the Diagnostic Pipeline for Hypomyelinating Leukodystrophy (HLD18)

DEGS1基因的缺失检测应作为诊断少突胶质细胞减少性脑白质营养不良（HLD18）流程的一部分。

HUMAN MUTATION
IF3.7
2025-05-070
OA
Zanobio, Mariateresa; Nardecchia, Francesca; Cappuccio, Gerarda; Onore, Maria Elena; Di Letto, Pasquale; Rahman, Sarah Iffat; Terrone, Gaetano; Ugga, Lorenzo; De Giorgi, Agnese; Cas, Michele Dei; Trinchera, Marco; Leuzzi, Vincenzo; Piluso, Giulio; Nigro, Vincenzo; Brunetti-Pierri, Nicola; Torella, Annalaura
L-serine treatment in patients with GRIN-related encephalopathy: a phase 2A, non-randomized study
BRAIN
IF11.7
2024-02-214
PRE
Julia-Palacios, Natalia; Olivella, Mireia; Sigatullina Bondarenko, Mariya; Ibanez-Mico, Salvador; Munoz-Cabello, Beatriz; Alonso-Luengo, Olga; Soto-Insuga, Victor; Garcia-Navas, Deyanira; Cuesta-Herraiz, Laura; Andreo-Lillo, Patricia; Aguilera-Albesa, Sergio; Hedrera-Fernandez, Antonio; Alguacil, Elena Gonzalez; Sanchez-Carpintero, Rocio; Martin del Valle, Fernando; Gonzalez, Erika Jimenez; Cabrera, Lourdes Cean; Medina-Rivera, Ines; Perez-Ordonez, Marta; Colome, Roser; Lopez, Laura; Cazorla, Maria Engracia; Fornaguera, Montserrat; Ormazabal, Aida; Alonso-Colmenero, Itziar; Illescas, Katia Sofia; Balsells-Mejia, Sol; Mari-Vico, Rosanna; Vinas, Maria Duffo; Cappuccio, Gerarda; Terrone, Gaetano; Romano, Roberta; Manti, Filippo; Mastrangelo, Mario; Alfonsi, Chiara; de Siqueira Barros, Bruna; Nizon, Mathilde; Gjerulfsen, Cathrine Elisabeth; Muro, Valeria L.; Karall, Daniela; Zeiner, Fiona; Masnada, Silvia; Peterlongo, Irene; Oyarzabal, Alfonso; Santos-Gomez, Ana; Altafaj, Xavier; Garcia-Cazorla, Angeles
DNA methylation episignature and comparative epigenomic profiling of HNRNPU-related neurodevelopmental disorder
GENETICS IN MEDICINE
IF6.2
2023-08-0111
PRE
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; Villemeur, Thierry B. de; Volker-Touw, Catharina M. L.; Verbeek, Nienke; Smagt, Jasper J. van der; Oegema, Renske; Brusco, Alfredo; Ferrero, Giovanni B.; Misra-Isrie, Mala; Hochstenbach, Ron; Alders, Marielle; Mannens, Marcel M. A. M.; Sadikovic, Bekim; van Haelst, Mieke M.; Henneman, Peter
Cholesterol 24-hydroxylase is a novel pharmacological target for anti-ictogenic and disease modification effects in epilepsy
NEUROBIOLOGY OF DISEASE
IF5.6
2022-10-0110
OAAI
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
Bi-allelic loss-of-function variants in PPFIBP1 cause a neurodevelopmental disorder with microcephaly, epilepsy, and periventricular calcifications
AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2022-08-0111
OAAI
Rosenhahn, Erik; O'Brien, Thomas J.; Zaki, Maha S.; Sorge, Ina; Wieczorek, Dagmar; Rostasy, Kevin; Vitobello, Antonio; Nambot, Sophie; Alkuraya, Fowzan S.; Hashem, Mais O.; Alhashem, Amal; Tabarki, Brahim; Alamri, Abdullah S.; Al Safar, Ayat H.; Bubshait, Dalal K.; Alahmady, Nada F.; Gleeson, Joseph G.; Abdel-Hamid, Mohamed S.; Lesko, Nicole; Ygberg, Sofia; Correia, Sandrina P.; Wredenberg, Anna; Alavi, Shahryar; Seyedhassani, Seyed M.; Nasab, Mahya Ebrahimi; Hussien, Haytham; Omar, Tarek E., I; Harzallah, Ines; Touraine, Renaud; Tajsharghi, Homa; Morsy, Heba; Houlden, Henry; Shahrooei, Mohammad; Ghavideldarestani, Maryam; Abdel-Salam, Ghada M. H.; Torella, Annalaura; Zanobio, Mariateresa; Terrone, Gaetano; Brunetti-Pierri, Nicola; Omrani, Abdolmajid; Hentschel, Julia; Lemke, Johannes R.; Sticht, Heinrich; Abou Jamra, Rami; Brown, Andre E. X.; Maroofian, Reza; Platzer, Konrad
Developmental and epilepsy spectrum ofKCNB1encephalopathy with long-term outcome
EPILEPSIA
IF6.6
2020-09-2132
OAAI
Bar, Claire; Kuchenbuch, Mathieu; Barcia, Giulia; Schneider, Amy; Jennesson, Melanie; Le Guyader, Gwenael; Lesca, Gaetan; Mignot, Cyril; Montomoli, Martino; Parrini, Elena; Isnard, Herve; Rolland, Anne; Keren, Boris; Afenjar, Alexandra; Dorison, Nathalie; Sadleir, Lynette G.; Breuillard, Delphine; Levy, Raphael; Rio, Marlene; Dupont, Sophie; Negrin, Susanna; Danieli, Alberto; Scalais, Emmanuel; De Saint Martin, Anne; El Chehadeh, Salima; Chelly, Jamel; Poisson, Alice; Lebre, Anne-Sophie; Nica, Anca; Odent, Sylvie; Sekhara, Tayeb; Brankovic, Vesna; Goldenberg, Alice; Vrielynck, Pascal; Lederer, Damien; Maurey, Helene; Terrone, Gaetano; Besmond, Claude; Hubert, Laurence; Berquin, Patrick; Billette de Villemeur, Thierry; Isidor, Bertrand; Freeman, Jeremy L.; Mefford, Heather C.; Myers, Candace T.; Howell, Katherine B.; Rodriguez-Sacristan Cascajo, Andres; Meyer, Pierre; Genevieve, David; Guet, Agnes; Doummar, Diane; Durigneux, Julien; van Dooren, Marieke F.; de Wit, Marie Claire Y.; Gerard, Marion; Marey, Isabelle; Munnich, Arnold; Guerrini, Renzo; Scheffer, Ingrid E.; Kabashi, Edor; Nabbout, Rima
Heterozygous KIF1A variants underlie a wide spectrum of neurodevelopmental and neurodegenerative disorders
JOURNAL OF MEDICAL GENETICS
IF3.7
2020-07-3125
PREAI
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
Expanding the genetic and phenotypic relevance of KCNB1 variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literature
HUMAN MUTATION
IF3.7
2019-10-0443
OAAI
Bar, Claire; Barcia, Giulia; Jennesson, Melanie; Le Guyader, Gwenael; Schneider, Amy; Mignot, Cyril; Lesca, Gaetan; Breuillard, Delphine; Montomoli, Martino; Keren, Boris; Doummar, Diane; de Villemeur, Thierry Billette; Afenjar, Alexandra; Marey, Isabelle; Gerard, Marion; Isnard, Herve; Poisson, Alice; Dupont, Sophie; Berquin, Patrick; Meyer, Pierre; Genevieve, David; De Saint Martin, Anne; El Chehadeh, Salima; Chelly, Jamel; Guet, Agnes; Scalais, Emmanuel; Dorison, Nathalie; Myers, Candace T.; Mefford, Heather C.; Howell, Katherine B.; Marini, Carla; Freeman, Jeremy L.; Nica, Anca; Terrone, Gaetano; Sekhara, Tayeb; Lebre, Anne-Sophie; Odent, Sylvie; Sadleir, Lynette G.; Munnich, Arnold; Guerrini, Renzo; Scheffer, Ingrid E.; Kabashi, Edor; Nabbout, Rima
RETRACTION: Targeting oxidative stress improves disease outcomes in a rat model of acquired epilepsy (Retraction of Vol 140, Pg 1885, 2017)

撤回: 靶向氧化应激可改善获得性癫痫大鼠模型的疾病结局 (140卷，1885页，2017页)

BRAIN
IF11.7
2019-05-3097
OAAI
Pauletti, Alberto; Terrone, Gaetano; Shekh-Ahmad, Tawfeeq; Salamone, Alessia; Ravizza, Teresa; Rizzi, Massimo; Pastore, Anna; Pascente, Rosaria; Liang, Li-Ping; Villa, Bianca R.; Balosso, Silvia; Abramov, Andrey Y.; van Vliet, Erwin A.; Del Giudice, Ennio; Aronica, Eleonora; Patel, Manisha; Walker, Matthew C.; Vezzani, Annamaria

研究方向

暂未获取到该数据
A
Annamaria Vezzani
H 指数:99论文数:376被引数:3.9万
E
Ennio Del Giudice
H 指数:28论文数:130被引数:3,509
N
Nicola Brunetti‐Pierri
H 指数:59论文数:380被引数:2.4万
A
Alessia Salamone
H 指数:15论文数:29被引数:1,075
A
Alberto Pauletti
H 指数:9论文数:27被引数:836
G
Gerarda Cappuccio
H 指数:29论文数:140被引数:2,705
M
Massimo Rizzi
H 指数:27论文数:65被引数:3,172
C
Carmela Bravaccio
H 指数:39论文数:164被引数:5,776
E
Eleonora Aronica
H 指数:115论文数:769被引数:5.0万
S
Silvia Balosso
H 指数:29论文数:55被引数:6,120