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

When gene replacement becomes a double-edged sword: Guardrails for precision neurotherapeutics in Lafora disease

基因替代疗法是一把双刃剑:拉福拉病精准神经治疗的护栏

Riva, Antonella; Striano, Pasquale

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

Functional Characterization of a De Novo SCN2A Mixed Variant Linked to Early Infantile Developmental and Epileptic Encephalopathy.

对与早期婴儿发育和癫痫性脑病相关的SCN2A新生混合变异进行功能表征。

Corradi Anna, Riva Antonella, Sterlini Bruno, Morinelli Lisastella, Ludovico Alessandra, Madia Francesca, Striano Pasquale, Albini Martina, Vitale Paola, Pusch Michael, Lombardo Giulia, Elia Maurizio, Chatron Nicolas, Lesca Gaetan, Zara Federico, Falsaperla Raffaele, Ferrera Loretta

Fenfluramine in SCN1A-related GEFS+: A multicenter observational study on efficacy, EEG improvement, and tolerability

芬氟拉明治疗 SCN1A 相关 GEFS+:一项关于疗效、脑电图改善和耐受性的多中心观察性研究

Dell'Isola, Giovanni B; Muda, Alice; Giordano, Lucio; Guerrini, Renzo; Boncristiano, Alessandra; Pietrafusa, Nicola; Polselli, Maria; Bisulli, Francesca; Ragona, Francesca; Riva, Antonella; Striano, Pasquale; Battaglia, Domenica Immacolata; Vigevano, Federico

Gut-immune-brain interactions during neurodevelopment: from a brain-centric to a multisystem perspective

神经发育过程中肠-免疫-脑相互作用:从以脑为中心到多系统视角

Volpedo, Greta; Riva, Antonella; Nobili, Lino; Zara, Federico; Ravizza, Teresa; Striano, Pasquale

Safety and efficacy of Igk-TATk-CDKL5 gene therapy in mosaic CDKL5 deficiency

Igk-TATk-CDKL5基因疗法治疗嵌合型CDKL5缺陷的安全性和有效性

Medici, Giorgio; Tassinari, Marianna; Loi, Manuela; Bove, Angelica Marina; Garofani, Beatrice Casadei; Volpedo, Greta; Mottolese, Nicola; Matteoli, Gabriele; Lo Martire, Viviana; Berteotti, Chiara; Candini, Giulia; Trebbi, Federica; Riva, Antonella; Striano, Pasquale; Zoccoli, Giovanna; Curia, Giulia; Trazzi, Stefania; Ciani, Elisabetta

Medication-resistant epilepsy is associated with a unique gut microbiota signature

药物难治性癫痫与独特的肠道菌群特征相关。

Riva, Antonella; Sahin, Eray; Volpedo, Greta; Catania, Noemi Teresa; Venara, Isabel; Biagioli, Valentina; Balagura, Ganna; Amadori, Elisabetta; De Caro, Carmen; Cerulli Irelli, Emanuele; Di Bonaventura, Carlo; Zara, Federico; Sezerman, Osman Ugur; Russo, Emilio; Striano, Pasquale

Fenfluramine treatment for Dravet syndrome: Long term real-world analysis demonstrates safety and reduced health care burden

芬氟拉明治疗德拉韦综合征:长期真实世界分析表明其安全性和可减轻医疗负担

Boncristiano, Alessandra; Balestrini, Simona; Doccini, Viola; Specchio, Nicola; Pietrafusa, Nicola; Trivisano, Marina; Darra, Francesca; Cossu, Alberto; Battaglia, Domenica; Quintiliani, Michela; Gambardella, M Luigia; Parente, Eliana; Monni, Rita; Matricardi, Sara; Marini, Carla; Ragona, Francesca; Granata, Tiziana; Striano, Pasquale; Riva, Antonella; Guerrini, Renzo

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

Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders

ACTL6B相关常染色体隐性和显性遗传性脑发育障碍的临床和遗传学特征

Cali, Elisa; Quirin, Tania; Rocca, Clarissa; Efthymiou, Stephanie; Riva, Antonella; Marafi, Dana; Zaki, Maha S; Suri, Mohnish; Dominguez, Roberto; Elbendary, Hasnaa M; Alavi, Shahryar; Abdel-Hamid, Mohamed S; Morsy, Heba; Mau-Them, Frederic Tran; Nizon, Mathilde; Tesner, Pavel; Ryba, Lukáš; Zafar, Faisal; Rana, Nuzhat; Saadi, Nebal W; Firoozfar, Zahra; Gencpinar, Pinar; Unay, Bulent; Ustun, Canan; Bruel, Ange-Line; Coubes, Christine; Stefanich, Jennifer; Sezer, Ozlem; Agolini, Emanuele; Novelli, Antonio; Vasco, Gessica; Lettori, Donatella; Milh, Mathieu; Villard, Laurent; Zeidler, Shimriet; Opperman, Henry; Strehlow, Vincent; Issa, Mahmoud Y; El Khassab, Hebatallah; Chand, Prem; Ibrahim, Shahnaz; Rashidi-Nezhad, Ali; Miryounesi, Mohammad; Larki, Pegah; Morrison, Jennifer; Cristian, Ingrid; Thiffault, Isabelle; Bertsch, Nicole L; Noh, Grace J; Pappas, John; Moran, Ellen; Marinakis, Nikolaos M; Traeger-Synodinos, Joanne; Hosseini, Susan; Abbaszadegan, Mohammad Reza; Caumes, Roseline; Vissers, Lisenka E L M; Neshatdoust, Maedeh; Montazer Zohour, Mostafa; El Fahime, Elmostafa; Canavati, Christina; Kamal, Lara; Kanaan, Moien; Askander, Omar; Voinova, Victoria; Levchenko, Olga; Haider, Shahzhad; Halbach, Sara S; Elias Maia, Rayana; Mansoor, Salehi; Jain, Vivek; Tawde, Sanjukta; Challa, Viveka Santhosh R; Gowda, Vykuntaraju K; Srinivasan, Varunvenkat M; Victor, Lucas Alves; Pinero-Banos, Benito; Hague, Jennifer; ElAwady, Heba Ahmed; Maria de Miranda Henriques-Souza, Adelia; Cheema, Huma Arshad; Anjum, Muhammad Nadeem; Idkaidak, Sara; Alqarajeh, Firas; Atawneh, Osama; Mor-Shaked, Hagar; Harel, Tamar; Zifarelli, Giovanni; Bauer, Peter; Kok, Fernando; Kitajima, Joao Paulo; Monteiro, Fabiola; Josahkian, Juliana; Lesca, Gaetan; Chatron, Nicolas; Ville, Dorothe; Murphy, David; Neul, Jeffrey L; Mullegama, Sureni V; Begtrup, Amber; Herman, Isabella; Mitani, Tadahiro; Posey, Jennifer E; Tay, Chee Geap; Javed, Iram; Carr, Lucinda; Kanani, Farah; Beecroft, Fiona; Hane, Lee; Abdelkreem, Elsayed; Macek, Milan; Bispo, Luciana; Elmaksoud, Marwa Abd; Hashemi-Gorji, Farzad; Pehlivan, Davut; Amor, David J; Jamra, Rami Abou; Chung, Wendy K; Ghayoor Karimiani, Eshan; Campeau, Philippe M; Alkuraya, Fowzan S; Pagnamenta, Alistair T; Gleeson, Joseph G; Lupski, James R; Striano, Pasquale; Moreno-De-Luca, Andres; Lafontaine, Denis L J; Houlden, Henry; Maroofian, Reza