日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Lennox-Gastaut syndrome unveiled: Advancing diagnosis, therapies, and advocacy-insights from the Genoa International Workshop

Lennox-Gastaut综合征揭开面纱:推进诊断、治疗和宣传——来自热那亚国际研讨会的见解

Riva, Antonella; D'Onofrio, Gianluca; Amadori, Elisabetta; Arzimanoglou, Alexis; Auvin, Stéphane; Bagnasco, Irene; Barabino, Paola; Biagioli, Valentina; Brambilla, Isabella; Cangemi, Giuliana; Coppola, Antonietta; De Lillo, Antonella; Di Bonaventura, Carlo; Di Gennaro, Giancarlo; Ferlazzo, Edoardo; Gil-Nagel, Antonio; Gobbi, Giuseppe; Lattanzi, Simona; Kluger, Gerhard; Krämer, Günter; Mancardi, Maria Margherita; Minetti, Carlo; Nobili, Lino; Paravati, Elisa; Pringsheim, Milka; Rebessi, Erika; Romeo, Antonino; Russo, Angelo; Russo, Emilio; Santoro, Katia; Schubert-Bast, Susanne; Siri, Laura; Sourbron, Jo; Vari, Maria Stella; Verrotti, Alberto; Villani, Flavio; Viri, Maurizio; von Stülpnagel, Celina; Zamponi, Nelia; Zara, Federico; Striano, Pasquale

Predictive value of seizure onset for gross motor dysfunction in individuals with pathogenic GABRB2 and GABRB3 variants

癫痫发作对携带致病性GABRB2和GABRB3变异的个体粗大运动功能障碍的预测价值

Ortiz, Sebastian; Affronte, Leonardo; Bagliani, Chiara; El-Kamand, Serene; Kan, Anthony Sze Hon; Kristoffersen, Isabel T; Dahl, Rebekka S; Højte, Anne F; Auvin, Stéphane; Bouman, Arjan; Zeidler, Shimriet; Kluger, Gerhard; Lesca, Gaetan; Chatron, Nicolas; Goke-Samar, Zeynep; Papadopoulou, Maria T; Terzi, Matthildi Athina Papathanasiou; Schaefer, Elise; de Saint Martin, Anne; Baer, Sarah; Al Owain, Mohammed; Takroni, Saud; Al-Dhalaan, Hesham; Bonanni, Paolo; Rossi, Alessandra; Zanotta, Nicoletta; Trivisano, Marina; Specchio, Nicola; de Dominicis, Angela; Striano, Pasquale; Orsini, Alessandro; Mancardi, Maria Margherita; Neuens, Sebastian; Jennesson-Lyver, Melanie; Benkel-Herrenbrueck, Ira; Genevieve, David; Sidlow, Richard; Tezcan, Kamer; Krey, Ilona; Lemke, Johannes R; Platzer, Konrad; Lederer, Damien; Talvik, Inga; Vaher, Ulvi; Braun, Kees P J; Guerrot, Anne-Marie; More, Rebecca; De Wachter, Matthias; Weckhuysen, Sarah; Carapancea, Evelina; Cilio, Maria Roberta; Jacobs, Julia; Sterbova, Katalin; Balestrini, Simona; Guerrini, Renzo; Peroni, Giulio; Mero, Inger-Lise; ElNaggar, Walaa; Elkhateeb, Nour; Schmetz, Ariane; Chan, Denise L; Mirzaa, Ghayda M; Chaumette, Boris; Legrand, Adrien; McTague, Amy; Stödberg, Tommy; Harris, Rebekah V; Berkovic, Samuel F; Scheffer, Ingrid E; Chebib, Mary; Gardella, Elena; Ahring, Philip K; Absalom, Nathan L; Møller, Rikke S

Isolated absence epilepsy associated with a de novo FBXW7 missense variant in the F-box domain

孤立性失神癫痫与F-box结构域中新发的FBXW7错义变异相关

Muhammad, Anees; Nosrati, Mohammad Sadegh Shams; Dostmohammadi, Alireza; Madia, Francesca; Mancardi, Maria Margherita; Fornarino, Stefania; Bosisio, Luca; Tavassol, Zahra Hoseini; Omrani, Mir Davood; Zara, Federico; Scala, Marcello

Autoinflammatory encephalopathy due to PTPN1 haploinsufficiency: a case series

PTPN1单倍体功能不全引起的自身炎症性脑病:病例系列

Zhu, Gaofeng; Didry-Barca, Blaise; Seabra, Luis; Rice, Gillian I; Uggenti, Carolina; Touimy, Moncef; Rodero, Mathieu P; Trapero, Rolando Hernandez; Bondet, Vincent; Duffy, Darragh; Gautier, Philippe; Livingstone, Katie; Sutherland, Fraser J H; Lebon, Pierre; Parisot, Mélanie; Bole-Feysot, Christine; Masson, Cécile; Cagnard, Nicolas; Nitschké, Patrick; Anderson, Glenn; Assmann, Birgit; Barth, Magalie; Boespflug-Tanguy, Odile; D'Arco, Felice; Dorboz, Imen; Giese, Thomas; Hacohen, Yael; Hancarova, Miroslava; Husson, Marie; Lepine, Anne; Lim, Ming; Mancardi, Maria Margherita; Melki, Isabelle; Neubauer, David; Sa, Mario; Sedlacek, Zdenek; Seitz, Angelika; Rottman, Mika Shapiro; Sanquer, Sylvia; Straussberg, Rachel; Vlčková, Markéta; Villéga, Frédéric; Wagner, Matias; Zerem, Ayelet; Marsh, Joseph A; Frémond, Marie-Louise; Kaliakatsos, Marios; Crow, Yanick J; El-Daher, Marie-Thérèse; Lepelley, Alice

DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders

DNA结合亲和力和特异性决定了BCL11B相关疾病的表型多样性

Lessel, Ivana; Baresic, Anja; Chinn, Ivan K; May, Jonathan; Goenka, Anu; Chandler, Kate E; Posey, Jennifer E; Afenjar, Alexandra; Averdunk, Luisa; Bedeschi, Maria Francesca; Besnard, Thomas; Brager, Rae; Brick, Lauren; Brugger, Melanie; Brunet, Theresa; Byrne, Susan; Calle-Martín, Oscar de la; Capra, Valeria; Cardenas, Paul; Chappé, Céline; Chong, Hey J; Cogne, Benjamin; Conboy, Erin; Cope, Heidi; Courtin, Thomas; Deb, Wallid; Dilena, Robertino; Dubourg, Christèle; Elgizouli, Magdeldin; Fernandes, Erica; Fitzgerald, Kristi K; Gangi, Silvana; George-Abraham, Jaya K; Gucsavas-Calikoglu, Muge; Haack, Tobias B; Hadonou, Medard; Hanker, Britta; Hüning, Irina; Iascone, Maria; Isidor, Bertrand; Järvelä, Irma; Jin, Jay J; Jorge, Alexander A L; Josifova, Dragana; Kalinauskiene, Ruta; Kamsteeg, Erik-Jan; Keren, Boris; Kessler, Elena; Kölbel, Heike; Kozenko, Mariya; Kubisch, Christian; Kuechler, Alma; Leal, Suzanne M; Leppälä, Juha; Luu, Sharon M; Lyon, Gholson J; Madan-Khetarpal, Suneeta; Mancardi, Margherita; Marchi, Elaine; Mehta, Lakshmi; Menendez, Beatriz; Morel, Chantal F; Harasink, Sue Moyer; Nevay, Dayna-Lynn; Nigro, Vincenzo; Odent, Sylvie; Oegema, Renske; Pappas, John; Pastore, Matthew T; Perilla-Young, Yezmin; Platzer, Konrad; Powell-Hamilton, Nina; Rabin, Rachel; Rekab, Aisha; Rezende, Raissa C; Robert, Leema; Romano, Ferruccio; Scala, Marcello; Poths, Karin; Schrauwen, Isabelle; Sebastian, Jessica; Short, John; Sidlow, Richard; Sullivan, Jennifer; Szakszon, Katalin; Tan, Queenie K G; Wagner, Matias; Wieczorek, Dagmar; Yuan, Bo; Maeding, Nicole; Strunk, Dirk; Begtrup, Amber; Banka, Siddharth; Lupski, James R; Tolosa, Eva; Lessel, Davor

Differential outcomes in familial and sporadic SCN8A self-limited infantile epilepsies: Insights from a large international registry

家族性和散发性SCN8A自限性婴儿癫痫的差异性预后:来自大型国际注册研究的启示

Furia, Francesca; Gverdtsiteli, Sopio; Janzarik, Wibke; Korff, Christian; Lesca, Gaetan; Mancardi, Maria Margherita; Montomoli, Martino; Nikanorova, Marina; Romaniello, Romina; Rubboli, Guido; Syrbe, Steffen; Vigevano, Federico; Møller, Rikke S; Gardella, Elena

Expanding the therapeutic role of highly purified cannabidiol in monogenic epilepsies: A multicenter real-world study

拓展高纯度大麻二酚在单基因癫痫治疗中的作用:一项多中心真实世界研究

Cerulli Irelli, Emanuele; Mazzeo, Adolfo; Caraballo, Roberto H; Perulli, Marco; Moloney, Patrick B; Peña-Ceballos, Javier; Rubino, Marica; Mieszczanek, Katarzyna M; Santangelo, Andrea; Licchetta, Laura; De Giorgis, Valentina; Reyes Valenzuela, Gabriela; Casellato, Susanna; Cesaroni, Elisabetta; Operto, Francesca F; Domínguez-Carral, Jana; Ramírez-Camacho, Alia; Ferretti, Alessandro; Santangelo, Giuseppe; Aledo-Serrano, Angel; Rüegger, Andrea; Mancardi, Maria M; Prato, Giulia; Riva, Antonella; Bergonzini, Luca; Cordelli, Duccio M; Bonanni, Paolo; Bisulli, Francesca; Di Gennaro, Giancarlo; Matricardi, Sara; Striano, Pasquale; Delanty, Norman; Marini, Carla; Battaglia, Domenica; Di Bonaventura, Carlo; Ramantani, Georgia; Gardella, Elena; Orsini, Alessandro; Coppola, Antonietta

Special Issue "The 25th Anniversary of NO"

特刊“NO诞生25周年”

Mancardi, Daniele; Samaja, Michele

Relationship between sodium and diffusion MRI metrics in multiple sclerosis

多发性硬化症中钠与扩散磁共振成像指标的关系

Cipriano, Emilio; Boffa, Giacomo; Graziano, Nicole; Wigley, Claire; Petracca, Maria; Schiavi, Simona; Mancardi, Giovanni Luigi; Klineova, Sylvia; Boada, Fernando; Lublin, Fred; Inglese, Matilde; Fleysher, Lazar

Multidisciplinary, multicenter consensus for the care of patients affected with Sturge-Weber syndrome

针对Sturge-Weber综合征患者的诊疗,已达成多学科、多中心共识。

El Hachem, May; Diociaiuti, Andrea; Galeotti, Angela; Grussu, Francesca; Gusson, Elena; Ferretti, Alessandro; Marras, Carlo Efisio; Vecchio, Davide; Cappelletti, Simona; Severino, Mariasavina; Gandolfo, Carlo; Reali, Simone; Longo, Rosa; D'Amore, Carmen; Gariazzo, Lodovica; Marraffa, Federica; Ciofi Degli Atti, Marta Luisa; Mancardi, Maria Margherita