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

Network Hypoactivity in ALG13-CDG: Disrupted Developmental Pathways and E/I Imbalance as Early Drivers of Neurological Features in CDG

ALG13-CDG中的网络活动减弱：发育通路紊乱和兴奋/抑制失衡是CDG神经系统特征的早期驱动因素

期刊:Cells
影响因子:5.2
doi:10.3390/cells15020147
Shah, Rameen; Budhraja, Rohit; Radenkovic, Silvia; Preston, Graeme; King, Alexia Tyler; Sabry, Sahar; Bleukx, Charlotte; Shammas, Ibrahim; Young, Lyndsay; Chandran, Jisha; Byeon, Seul Kee; Hrstka, Ronald; Smith, Doughlas Y 4th; Staff, Nathan P; Drake, Richard; Sloan, Steven A; Pandey, Akhilesh; Morava, Eva; Kozicz, Tamas
信号转导
发育与干细胞
发表日期：2026
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ALG13 loss-of-function alters glycosylation, impairs neuronal maturation, and drives network hypoactivity in a cortical organoid model of CDG

ALG13功能缺失会改变糖基化，损害神经元成熟，并在CDG皮质类器官模型中导致网络活动减弱。

期刊:
影响因子:
doi:10.1101/2025.07.09.663964
Shah, Rameen; Budhraja, Rohit; Radenkovic, Silvia; Preston, Graeme; King, Alexia Tyler; Sabry, Sahar; Bleukx, Charlotte; Shammas, Ibrahim; Young, Lyndsay; Chandran, Jisha; Byeon, Seul Kee; Hrstka, Ronald; Smith, Doughlas Y; Staff, Nathan P; Drake, Richard; Sloan, Steven A; Pandey, Akhilesh; Morava, Eva; Kozicz, Tamas
3D/类器官
神经科学
发表日期：2025
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Coagulation abnormalities and vascular complications are common in PGM1-CDG

PGM1-CDG患者常出现凝血异常和血管并发症。

期刊:Molecular Genetics and Metabolism
影响因子:3.5
doi:10.1016/j.ymgme.2024.108530
Radenkovic, Silvia; Bleukx, Sofie; Engelhardt, Nicole; Eklund, Erik; Mercimek-Andrews, Saadet; Edmondson, Andrew C; Morava, Eva
发表日期：2024
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