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

New variants and genotype-phenotype correlation in KIF5A mutation: the contribution of a large Italian cohort

KIF5A突变的新变异及基因型-表型相关性:一项大型意大利队列研究的贡献

Ferese, Rosangela; Suppa, Antonio; Campopiano, Rosa; Scala, Simona; Sammarone, Federica; Di Pilla, Luana; Di Pardo, Alba; Chiaravalloti, Maria Antonietta; Griguoli, Anna Maria; Cannella, Milena; D'Alessio, Carmelo; Storto, Marianna; Fanelli, Mirco; Zampogna, Alessandro; Patera, Martina; Inghilleri, Maurizio; Ceccanti, Marco; Cambieri, Chiara; Buttari, Fabio; Peconi, Cristina; Giardina, Emiliano; Zampatti, Stefania; Centonze, Diego; Gambardella, Stefano

An IL-5 Single-Nucleotide Polymorphism Influences Neuroinflammation and Prospective Disease Activity in Multiple Sclerosis

IL-5单核苷酸多态性影响多发性硬化症的神经炎症和未来疾病活动

Dolcetti, Ettore; Buttari, Fabio; Bruno, Antonio; Azzolini, Federica; Gilio, Luana; Borrelli, Angela; Di Caprio, Veronica; Lauritano, Gianluca; Galifi, Giovanni; Gambardella, Stefano; Ferese, Rosangela; Giardina, Emiliano; Rovella, Valentina; Furlan, Roberto; Finardi, Annamaria; Musella, Alessandra; Balletta, Sara; Mandolesi, Georgia; Centonze, Diego; Stampanoni Bassi, Mario

Interaction between miR-142-3p and BDNF Val/Met Polymorphism Regulates Multiple Sclerosis Severity

miR-142-3p 与 BDNF Val/Met 多态性的相互作用调节多发性硬化症的严重程度

Ettore Dolcetti, Alessandra Musella, Sara Balletta, Luana Gilio, Antonio Bruno, Mario Stampanoni Bassi, Gianluca Lauritano, Fabio Buttari, Diego Fresegna, Alice Tartacca, Fabrizio Mariani, Federica Palmerio, Valentina Rovella, Rosangela Ferese, Stefano Gambardella, Emiliano Giardina, Annamaria Finar

Autophagy Activation Associates with Suppression of Prion Protein and Improved Mitochondrial Status in Glioblastoma Cells

自噬激活与胶质母细胞瘤细胞中朊病毒蛋白的抑制和线粒体状态的改善有关

Paola Lenzi, Carla L Busceti, Gloria Lazzeri, Rosangela Ferese, Francesca Biagioni, Alessandra Salvetti, Elena Pompili, Valerio De Franchis, Stefano Puglisi-Allegra, Alessandro Frati, Michela Ferrucci, Francesco Fornai

A Splicing Variant in RDH8 Is Associated with Autosomal Recessive Stargardt Macular Dystrophy

RDH8 基因剪接变异与常染色体隐性遗传的 Stargardt 黄斑营养不良症相关

Zampatti, Stefania; Peconi, Cristina; Calvino, Giulia; Ferese, Rosangela; Gambardella, Stefano; Cascella, Raffaella; Sebastiani, Jacopo; Falsini, Benedetto; Cusumano, Andrea; Giardina, Emiliano

Cohort analysis of novel SPAST variants in SPG4 patients and implementation of in vitro and in vivo studies to identify the pathogenic mechanism caused by splicing mutations

对SPG4患者中新的SPAST变异进行队列分析,并开展体内外研究,以确定剪接突变引起的致病机制

Rosangela Ferese, Simona Scala, Antonio Suppa, Rosa Campopiano, Francesco Asci, Alessandro Zampogna, Maria Antonietta Chiaravalloti, Annamaria Griguoli, Marianna Storto, Alba Di Pardo, Emiliano Giardina, Stefania Zampatti, Francesco Fornai, Giuseppe Novelli, Mirco Fanelli, Chiara Zecca, Giancarlo Lo

Establishing an online resource to facilitate global collaboration and inclusion of underrepresented populations: Experience from the MJFF Global Genetic Parkinson's Disease Project

建立在线资源以促进全球合作和弱势群体参与:MJFF全球遗传帕金森病项目的经验

Vollstedt, Eva-Juliane; Madoev, Harutyun; Aasly, Anna; Ahmad-Annuar, Azlina; Al-Mubarak, Bashayer; Alcalay, Roy N; Alvarez, Victoria; Amorin, Ignacio; Annesi, Grazia; Arkadir, David; Bardien, Soraya; Barker, Roger A; Barkhuizen, Melinda; Basak, A Nazli; Bonifati, Vincenzo; Boon, Agnita; Brighina, Laura; Brockmann, Kathrin; Carmine Belin, Andrea; Carr, Jonathan; Clarimon, Jordi; Cornejo-Olivas, Mario; Correia Guedes, Leonor; Corvol, Jean-Christophe; Crosiers, David; Damásio, Joana; Das, Parimal; de Carvalho Aguiar, Patricia; De Rosa, Anna; Dorszewska, Jolanta; Ertan, Sibel; Ferese, Rosangela; Ferreira, Joaquim; Gatto, Emilia; Genç, Gençer; Giladi, Nir; Gómez-Garre, Pilar; Hanagasi, Hasmet; Hattori, Nobutaka; Hentati, Faycal; Hoffman-Zacharska, Dorota; Illarioshkin, Sergey N; Jankovic, Joseph; Jesús, Silvia; Kaasinen, Valtteri; Kievit, Anneke; Klivenyi, Peter; Kostic, Vladimir; Koziorowski, Dariusz; Kühn, Andrea A; Lang, Anthony E; Lim, Shen-Yang; Lin, Chin-Hsien; Lohmann, Katja; Markovic, Vladana; Martikainen, Mika Henrik; Mellick, George; Merello, Marcelo; Milanowski, Lukasz; Mir, Pablo; Öztop-Çakmak, Özgür; Pimentel, Márcia Mattos Gonçalves; Pulkes, Teeratorn; Puschmann, Andreas; Rogaeva, Ekaterina; Sammler, Esther M; Skaalum Petersen, Maria; Skorvanek, Matej; Spitz, Mariana; Suchowersky, Oksana; Tan, Ai Huey; Termsarasab, Pichet; Thaler, Avner; Tumas, Vitor; Valente, Enza Maria; van de Warrenburg, Bart; Williams-Gray, Caroline H; Wu, Ruey-Mei; Zhang, Baorong; Zimprich, Alexander; Solle, Justin; Padmanabhan, Shalini; Klein, Christine

Modeling native and seeded Synuclein aggregation and related cellular dysfunctions in dopaminergic neurons derived by a new set of isogenic iPSC lines with SNCA multiplications

通过 SNCA 增殖的一组新的同源 iPSC 系衍生的多巴胺能神经元中的天然和种子突触核蛋白聚集和相关细胞功能障碍进行建模

Angelo Iannielli #, Mirko Luoni #, Serena Gea Giannelli #, Rosangela Ferese, Gabriele Ordazzo, Matteo Fossati, Andrea Raimondi, Felipe Opazo, Olga Corti, Jochen H M Prehn, Stefano Gambardella, Ronald Melki, Vania Broccoli

The BDNF Val66Met Polymorphism (rs6265) Modulates Inflammation and Neurodegeneration in the Early Phases of Multiple Sclerosis

BDNF Val66Met多态性(rs6265)调节多发性硬化症早期阶段的炎症和神经退行性变

Dolcetti, Ettore; Bruno, Antonio; Azzolini, Federica; Gilio, Luana; Moscatelli, Alessandro; De Vito, Francesca; Pavone, Luigi; Iezzi, Ennio; Gambardella, Stefano; Giardina, Emiliano; Ferese, Rosangela; Buttari, Fabio; Rizzo, Francesca Romana; Furlan, Roberto; Finardi, Annamaria; Musella, Alessandra; Mandolesi, Georgia; Guadalupi, Livia; Centonze, Diego; Stampanoni Bassi, Mario

Interleukin 6 SNP rs1818879 Regulates Radiological and Inflammatory Activity in Multiple Sclerosis

白细胞介素 6 SNP rs1818879 调节多发性硬化症的放射学和炎症活动

Bruno, Antonio; Dolcetti, Ettore; Azzolini, Federica; Moscatelli, Alessandro; Gambardella, Stefano; Ferese, Rosangela; Rizzo, Francesca Romana; Gilio, Luana; Iezzi, Ennio; Galifi, Giovanni; Borrelli, Angela; Buttari, Fabio; Furlan, Roberto; Finardi, Annamaria; De Vito, Francesca; Musella, Alessandra; Guadalupi, Livia; Mandolesi, Georgia; Centonze, Diego; Stampanoni Bassi, Mario