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

Ameliorating Seizures in Dravet Syndrome: A Review of Newly Approved and Investigational Drugs, RNA and Gene-Based Therapies

改善德拉韦综合征癫痫发作:新批准药物和研究性药物、RNA和基因疗法的综述

Balestrini, Simona; Scheffer, Ingrid E

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

Nrf2-Activating Natural Compounds in Neurodegenerative Diseases: Targeting Oxidative Stress and Protein Aggregation

神经退行性疾病中Nrf2激活天然化合物:靶向氧化应激和蛋白质聚集

Chico, Lucia; Schirinzi, Erika; Balestrini, Linda; Polzella, Maico; Siciliano, Gabriele

Epilepsy with myoclonic-atonic seizures: genetic aetiologies, outcomes and prognostic indicators

肌阵挛-失张力性发作型癫痫:遗传病因、预后及预后指标

Pellacani, Simona; Balestrini, Simona; Fino, Edoardo; Barba, Carmen; Cavallin, Mara; Pisano, Tiziana; Parrini, Elena; Ferrari, Anna Rita; Marzi, Chiara; Grisotto, Laura; Guerrini, Renzo

Real-World Use of Cenobamate in Paediatric Drug-Resistant Epilepsy: Long-Term Efficacy, Safety, and Co-Medication Adjustment

Cenobamate在儿童耐药性癫痫中的真实世界应用:长期疗效、安全性和联合用药调整

Pisano, Tiziana; Balestrini, Simona; Boncristiano, Alessandra; Caini, Saverio; Lombardini, Martina; Scuma, Erica; Cavallin, Mara; Bartolini, Luca; Pellacani, Simona; Barba, Carmen; Guerrini, Renzo

Characterization of Sleep in Alternating Hemiplegia of Childhood: An International Survey

儿童交替性偏瘫患者睡眠特征:一项国际调查

Fortunato, Francesco; Vivekananda, Umesh; Behl, Katherine Elizabeth; Vavassori, Rosaria; Cordani, Ramona; Stagnaro, Michela; De Grandis, Elisa; Sisodiya, Sanjay M; Balestrini, Simona

Advancing clinical insight into creatine transporter deficiency: long term outcome and new observations from the Italian cohort

加深对肌酸转运蛋白缺乏症的临床认识:意大利队列研究的长期结果和新发现

Alessandrì, Maria Grazia; Bosetti, Chiara; Scaffei, Elena; Casalini, Claudia; Balestrini, Simona; Tramacere, Luciana; Ambrosi, Pierfrancesco; Tosetti, Michela; Guerrini, Renzo; Battini, Roberta

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

SUDEP risk is influenced by longevity genomics: a polygenic risk score study

长寿基因组学影响 SUDEP 风险:一项多基因风险评分研究

Martins, Helena; Mills, James D; Pagni, Susanna; Gulcebi, Medine I; Vakrinou, Angeliki; Moloney, Patrick B; Clayton, Lisa M; Bellampalli, Ravishankara; Stamberger, Hannah; Weckhuysen, Sarah; Striano, Pasquale; Zara, Federico; Bagnall, Richard D; Harris, Rebekah V; Lawrence, Kate M; Sadleir, Lynette G; Crompton, Douglas E; Friedman, Daniel; Laze, Juliana; Li, Ling; Berkovic, Samuel F; Semsarian, Christopher; Scheffer, Ingrid E; Devinsky, Orrin; Kuchenbaecker, Karoline; Balestrini, Simona; Sisodiya, Sanjay M