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

Deficiency of Glucocerebrosidase Activity beyond Gaucher Disease: PSAP and LIMP-2 Dysfunctions

戈谢病以外的葡萄糖脑苷脂酶活性缺乏:PSAP 和 LIMP-2 功能障碍

Eleonora Pavan, Paolo Peruzzo, Silvia Cattarossi, Natascha Bergamin, Andrea Bordugo, Annalisa Sechi, Maurizio Scarpa, Jessica Biasizzo, Fabiana Colucci, Andrea Dardis

Exploring the Pathophysiologic Cascade Leading to Osteoclastogenic Activation in Gaucher Disease Monocytes Generated via CRISPR/Cas9 Technology

通过 CRISPR/Cas9 技术探索导致戈谢病单核细胞破骨细胞激活的病理生理级联

Maximiliano Emanuel Ormazabal, Eleonora Pavan, Emilio Vaena, Dania Ferino, Jessica Biasizzo, Juan Marcos Mucci, Fabrizio Serra, Adriana Cifù, Maurizio Scarpa, Paula Adriana Rozenfeld, Andrea Elena Dardis

A Computational Workflow for the Identification of Novel Fragments Acting as Inhibitors of the Activity of Protein Kinase CK1δ

用于鉴定新型蛋白激酶CK1δ活性抑制剂片段的计算工作流程

Bolcato, Giovanni; Cescon, Eleonora; Pavan, Matteo; Bissaro, Maicol; Bassani, Davide; Federico, Stephanie; Spalluto, Giampiero; Sturlese, Mattia; Moro, Stefano

Accurate Molecular Diagnosis of Gaucher Disease Using Clinical Exome Sequencing as a First-Tier Test

使用临床外显子组测序作为一级检测,准确进行戈谢病的分子诊断

Stefania Zampieri, Silvia Cattarossi, Eleonora Pavan, Antonio Barbato, Agata Fiumara, Paolo Peruzzo, Maurizio Scarpa, Giovanni Ciana, Andrea Dardis

In vitro and in vivo effects of Ambroxol chaperone therapy in two Italian patients affected by neuronopathic Gaucher disease and epilepsy

氨溴索伴侣疗法对两名患有神经性戈谢病和癫痫的意大利患者的体外和体内效果

Giovanni Ciana, Andrea Dardis, Eleonora Pavan, Rosalia Maria Da Riol, Jessica Biasizzo, Dania Ferino, Manuela Zanatta, Antonella Boni, Luisa Antonini, Giovanni Crichiutti, Bruno Bembi

CRISPR/Cas9 Editing for Gaucher Disease Modelling

利用 CRISPR/Cas9 编辑戈谢病模型

Eleonora Pavan, Maximiliano Ormazabal, Paolo Peruzzo, Emilio Vaena, Paula Rozenfeld, Andrea Dardis