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

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

Translational lipidomics reveals BMP and its precursor LPG as biomarkers for CLN5 Batten disease

转化脂质组学揭示BMP及其前体LPG可作为CLN5巴顿病的生物标志物。

Rawat, Eshaan S; Manfred, Nick; Alsohybe, Hisham N; Dong, Wentao; Peña, Isabelle V; Idris, Maryam; Posern, Christian; Westermann, Lena M; Murray, Samantha J; Panneman, Daan M; Vecchia, Stefania Della; Doccini, Stefano; Marchese, Maria; Santorelli, Filippo M; van Hasselt, Peter M; Mitchell, Nadia L; Schulz, Angela; Abu-Remaileh, Monther

CLN5 deficiency impairs glucose uptake and uncovers PHGDH as a potential biomarker in Batten disease.

CLN5 缺乏会损害葡萄糖吸收,并揭示 PHGDH 是巴顿病的潜在生物标志物

Marchese Maria, Bernardi Sara, Vivarelli Rachele, Doccini Stefano, Santucci Lorenzo, Ogi Asahi, Licitra Rosario, Zang Jingjing, Soliymani Rabah, Mero Serena, Neuhauss Stephan Cf, Ciarmoli Lea, Signore Giovanni, Lalowski Maciej M, Santorelli Filippo M

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

Mitochondrial Dysfunction in Genetic and Non-Genetic Parkinson's Disease

遗传性和非遗传性帕金森病中的线粒体功能障碍

Lucchesi, Martina; Biso, Letizia; Bonaso, Marco; Longoni, Biancamaria; Buchignani, Bianca; Battini, Roberta; Santorelli, Filippo Maria; Doccini, Stefano; Scarselli, Marco

Cephalomannine as in vitro and in vivo anticancer agent in mesothelioma cells: mechanisms of action

头孢菌素作为间皮瘤细胞体外和体内抗癌剂的作用机制

Morani, Federica; Dell'Anno, Irene; Daga, Antonio; Doccini, Stefano; Bisceglia, Luisa; Gemignani, Federica; Landi, Stefano

Targeting autophagy impairment improves the phenotype of a novel CLN8 zebrafish model

针对自噬损伤可改善新型 CLN8 斑马鱼模型的表型

Maria Marchese, Sara Bernardi, Asahi Ogi, Rosario Licitra, Giada Silvi, Serena Mero, Daniele Galatolo, Nicola Gammaldi, Stefano Doccini, Gian Michele Ratto, Simona Rapposelli, Stephan C F Neuhauss, Jingjing Zang, Silvia Rocchiccioli, Elena Michelucci, Elisa Ceccherini, Filippo M Santorelli

Extracellular Vesicles Induce Nuclear Factor-κB Activation and Interleukin-8 Synthesis through miRNA-191-5p Contributing to Inflammatory Processes: Potential Implications in the Pathogenesis of Chronic Obstructive Pulmonary Disease

细胞外囊泡通过 miRNA-191-5p 诱导核因子-κB 活化和白细胞介素-8 合成,从而促进炎症过程:在慢性阻塞性肺疾病发病机制中的潜在意义

Carpi, Sara; Polini, Beatrice; Nieri, Dario; Doccini, Stefano; Conti, Maria; Bazzan, Erika; Pagnini, Marta; Santorelli, Filippo Maria; Cecchini, Marco; Nieri, Paola; Celi, Alessandro; Neri, Tommaso

SCAR32: Functional characterization and expansion of the clinical-genetic spectrum

SCAR32:临床遗传谱的功能表征和扩展

Valentina Naef, Maria Lieto, Sara Satolli, Rosa De Micco, Martina Troisi, Rosa Pasquariello, Stefano Doccini, Flavia Privitera, Alessandro Filla, Alessandro Tessitore, Filippo Maria Santorelli

Proteomics and lipidomic analysis reveal dysregulated pathways associated with loss of sacsin

蛋白质组学和脂质组学分析揭示了与sacsin缺失相关的失调通路

Galatolo, Daniele; Rocchiccioli, Silvia; Di Giorgi, Nicoletta; Dal Canto, Flavio; Signore, Giovanni; Morani, Federica; Ceccherini, Elisa; Doccini, Stefano; Santorelli, Filippo Maria