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

Characterization of Skeletal Muscle Biopsy and Derived Myoblasts in a Patient Carrying Arg14del Mutation in Phospholamban Gene

对携带磷蛋白基因Arg14del突变的患者进行骨骼肌活检和衍生成肌细胞的特征分析

Zanotti, Simona; Ripolone, Michela; Napoli, Laura; Velardo, Daniele; Salani, Sabrina; Ciscato, Patrizia; Priori, Silvia; Kukavica, Deni; Mazzanti, Andrea; Diamanti, Luca; Vegezzi, Elisa; Moggio, Maurizio; Corti, Stefania; Comi, Giacomo; Sciacco, Monica

Transcriptomic characterization of tissues from patients and subsequent pathway analyses reveal biological pathways that are implicated in spastic ataxia

对患者组织进行转录组学表征以及后续的通路分析,揭示了与痉挛性共济失调相关的生物学通路。

Kakouri, Andrea C; Votsi, Christina; Oulas, Anastasis; Nicolaou, Paschalis; Aureli, Massimo; Lunghi, Giulia; Samarani, Maura; Compagnoni, Giacomo M; Salani, Sabrina; Di Fonzo, Alessio; Christophides, Thalis; Tanteles, George A; Zamba-Papanicolaou, Eleni; Pantzaris, Marios; Spyrou, George M; Christodoulou, Kyproula

Dystonia-ataxia syndrome with permanent torsional nystagmus caused by ECHS1 deficiency

由ECHS1缺陷引起的伴有永久性扭转性眼球震颤的肌张力障碍-共济失调综合征

Ronchi, Dario; Monfrini, Edoardo; Bonato, Sara; Mancinelli, Veronica; Cinnante, Claudia; Salani, Sabrina; Bordoni, Andreina; Ciscato, Patrizia; Fortunato, Francesco; Villa, Marianna; Di Fonzo, Alessio; Corti, Stefania; Bresolin, Nereo; Comi, Giacomo P

Human induced pluripotent stem cell models for the study and treatment of Duchenne and Becker muscular dystrophies

用于研究和治疗杜氏肌营养不良症和贝克尔肌营养不良症的人类诱导多能干细胞模型

Piga, Daniela; Salani, Sabrina; Magri, Francesca; Brusa, Roberta; Mauri, Eleonora; Comi, Giacomo P; Bresolin, Nereo; Corti, Stefania

Mitochondrial Dysregulation and Impaired Autophagy in iPSC-Derived Dopaminergic Neurons of Multiple System Atrophy.

多系统萎缩症中iPSC衍生多巴胺能神经元的线粒体功能失调和自噬受损

Monzio Compagnoni Giacomo, Kleiner Giulio, Samarani Maura, Aureli Massimo, Faustini Gaia, Bellucci Arianna, Ronchi Dario, Bordoni Andreina, Garbellini Manuela, Salani Sabrina, Fortunato Francesco, Frattini Emanuele, Abati Elena, Bergamini Christian, Fato Romana, Tabano Silvia, Miozzo Monica, Serratto Giulia, Passafaro Maria, Deleidi Michela, Silipigni Rosamaria, Nizzardo Monica, Bresolin Nereo, Comi Giacomo P, Corti Stefania, Quinzii Catarina M, Di Fonzo Alessio

Gene therapy rescues disease phenotype in a spinal muscular atrophy with respiratory distress type 1 (SMARD1) mouse model

基因疗法可挽救脊髓性肌萎缩症伴呼吸窘迫1型(SMARD1)小鼠模型的疾病表型

Nizzardo, Monica; Simone, Chiara; Rizzo, Federica; Salani, Sabrina; Dametti, Sara; Rinchetti, Paola; Del Bo, Roberto; Foust, Kevin; Kaspar, Brian K; Bresolin, Nereo; Comi, Giacomo P; Corti, Stefania

Spinal muscular atrophy phenotype is ameliorated in human motor neurons by SMN increase via different novel RNA therapeutic approaches

通过不同的新型RNA治疗方法增加SMN蛋白,可以改善人类运动神经元中的脊髓性肌萎缩症表型。

Nizzardo, Monica; Simone, Chiara; Dametti, Sara; Salani, Sabrina; Ulzi, Gianna; Pagliarani, Serena; Rizzo, Federica; Frattini, Emanuele; Pagani, Franco; Bresolin, Nereo; Comi, Giacomo; Corti, Stefania

Cellular therapy to target neuroinflammation in amyotrophic lateral sclerosis

细胞疗法靶向治疗肌萎缩侧索硬化症中的神经炎症

Rizzo, Federica; Riboldi, Giulietta; Salani, Sabrina; Nizzardo, Monica; Simone, Chiara; Corti, Stefania; Hedlund, Eva

Generation of skeletal muscle cells from embryonic and induced pluripotent stem cells as an in vitro model and for therapy of muscular dystrophies

利用胚胎干细胞和诱导多能干细胞生成骨骼肌细胞作为体外模型和治疗肌营养不良症

Salani, Sabrina; Donadoni, Chiara; Rizzo, Federica; Bresolin, Nereo; Comi, Giacomo P; Corti, Stefania

Beta-lactam antibiotic offers neuroprotection in a spinal muscular atrophy model by multiple mechanisms: Experimental Neurology 2011; 229: 214-225

β-内酰胺类抗生素通过多种机制在脊髓性肌萎缩症模型中发挥神经保护作用:实验神经病学 2011; 229: 214-225

Nizzardo, Monica; Nardini, Martina; Ronchi, Dario; Salani, Sabrina; Donadoni, Chiara; Fortunato, Francesco; Colciago, Giorgia; Falcone, Marianna; Simone, Chiara; Riboldi, Giulietta; Govoni, Alessandra; Bresolin, Nereo; Comi, Giacomo P; Corti, Stefania