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

Clinical and genetic landscape of epilepsies with absence seizures and single-gene etiology

伴有失神发作和单基因病因的癫痫的临床和遗传特征

Balestrini, Simona; Galli, Ilaria; Ricci, Maria Luisa; Parrini, Elena; Mei, Davide; Mastrangelo, Mario; Pisani, Francesco; Filippi, Corinna; Giordano, Lucio; Cesaroni, Elisabetta; Marini, Carla; Cerulli Irelli, Emanuele; di Bonaventura, Carlo; Rubino, Marica; Coppola, Antonietta; Proietti, Jacopo; Barco, Tommaso Lo; Darra, Francesca; Licchetta, Laura; Bisulli, Francesca; Perulli, Marco; Battaglia, Domenica; De Dominicis, Angela; Trivisano, Marina; Specchio, Nicola; Solazzi, Roberta; Caputo, Davide; Canafoglia, Laura; Guerrini, Renzo

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

Molecular mechanisms underlying the ferroptosis-induced epileptiform activity in mouse cortical slices

小鼠皮层切片中铁死亡诱导癫痫样活动的分子机制

Petrillo, Sara; Loia, Federica; Giustizieri, Michela; Torda, Caterina; Cairoli, Sara; Goffredo, Bianca; Trivisano, Marina; de Palma, Luca; Vigevano, Federico; Specchio, Nicola; Cherubini, Enrico; Piemonte, Fiorella

Telemedicine in epilepsy care: A Nationwide survey by the Italian Chapter of the International League Against Epilepsy (LICE) on adoption, barriers, and perceived value

远程医疗在癫痫治疗中的应用:意大利国际抗癫痫联盟 (LICE) 分会开展的一项全国性调查,内容涉及远程医疗的采纳、障碍和感知价值

Brigo, Francesco; Assenza, Giovanni; Dono, Fedele; Duca, Maddalena; Lanzone, Jacopo; Lo Barco, Tommaso; Licchetta, Laura; Spagnoli, Carlotta; Tassi, Laura; Trivisano, Marina; Mecarelli, Oriano

Cost-effectiveness of fenfluramine as add-on treatment in the management of Dravet Syndrome: A real-world multicenter study

芬氟拉明作为辅助治疗药物在Dravet综合征治疗中的成本效益:一项真实世界多中心研究

Cortesi, Paolo A; Fornari, Carla; Boncristiano, Alessandra; Facchetti, Rita; Balestrini, Simona; Doccini, Viola; Specchio, Nicola; Pietrafusa, Nicola; Trivisano, Marina; Darra, Francesca; Cossu, Alberto; Battaglia, Domenica I; Quintiliani, Michela; Gambardella, Maria L; Mantovani, Lorenzo G; Guerrini, Renzo

Evaluation of Anti-dsDNA Antibodies in Laboratory Practice: Management of Different Analytical Methods and Correlation with HEp-2 Immunofluorescence Patterns

实验室实践中抗dsDNA抗体的评价:不同分析方法的管理及与HEp-2免疫荧光模式的相关性

Papale, Massimo; Paolillo, Carmela; Iafelice, Loredana; Trivisano, Tiziana; Netti, Giuseppe Stefano; Ranieri, Elena; Corso, Gaetano

Ultra long-term EEG monitoring for developmental and epileptic encephalopathies: protocol for a prospective study using subscalp EEG

发育性和癫痫性脑病超长期脑电图监测:一项采用皮下脑电图的前瞻性研究方案

Affronte, Leonardo; Maffei, Stefania; Malerba, Mara; Giovannini, Giada; Manganotti, Paolo; Coppola, Antonietta; Bilo, Leonilda; Vaudano, Anna Elisabetta; Trivisano, Marina; Specchio, Nicola; Meletti, Stefano

White-Sutton Syndrome: Insight of an Italian Cohort of 19 Subjects

怀特-萨顿综合征:一项对19名意大利受试者的研究

Facchini, Anna; Concas, Maria Pina; Zampieri, Stefania; Scala, Iris; Graziano, Claudio; Innoceta, Anna Maria; Trivisano, Marina; De Dominicis, Angela; Trimarchi, Gabriele; Garavelli, Livia; Baldassarri, Margherita; De Maggio, Ilaria; Mari, Francesca; Greco, Donatella; Gasparini, Paolo

Long-Term Open-Label Study Evaluating Oral Miglustat Treatment in Patients With Neuronal Ceroid Lipofuscinosis Type 3

一项评估口服米格鲁司他治疗神经元蜡样脂褐质沉积症3型患者的长期开放标签研究

Pietrafusa, Nicola; Trivisano, Marina; Calabrese, Costanza; De Dominicis, Angela; Cappelletti, Simona; Correale, Cinzia; Salimbene, Licia; Vallesi, Leonardo; Corsetti, Tiziana; Specchio, Nicola

Development and Adaptive Function in Individuals With SCN2A-Related Disorders

SCN2A相关疾病患者的发育和适应功能

Goad, Beatrice Southby; Rodda, Jill; Allen, Meagan; Bamborschke, Daniel; Overmars, Isabella; Kerr, Rachel J; Bushlin, Ittai; Chopra, Saurabh; Coorg, Rohini; Dabscheck, Gabriel; Freeman, Jeremy L; Mackay, Mark T; Devinsky, Orrin; Guerrini, Renzo; Parrini, Elena; Bölsterli, Bigna; Hughes, Inna; Huh, Linda L; Kamate, Mahesh; Kunz, Abby B; Melikishvili, Gia; Miteff, Christina; Myers, Kenneth Alexis; Olson, Heather E; Poduri, Annapurna; Pillai, Sekhar; Riney, Catherine Kate; Sinclair, Adriane; Calvert, Sophie; Reynolds, Thomas Q; Martinez, Ana Roche; Russo, Angelo; Sadleir, Lynette Grant; Sanchez-Albisua, Iciar; Sartori, Stefano; Shea, Stephanie; Smith-Hicks, Constance L; Spooner, Claire G; Thomas, Rhys H; Ardern-Holmes, Simone L; Webster, Richard Ian; Valeriani, Massimiliano; Veggiotti, Pierangelo; Masnada, Silvia; Ware, Tyson L; Yoong, Michael; Berecki, Geza; De Dominicis, Angela; Specchio, Nicola; Trivisano, Marina; Møller, Rikke Steensbjerre; Wolff, Markus; Fazeli, Walid; Scheffer, Ingrid; Howell, Katherine B