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

PGM1 deficiency is linked to sarcomeric and mitochondrial dysfunction in patient-derived iPSC-cardiomyocytes

PGM1 缺乏与患者来源的 iPSC 心肌细胞的肌节和线粒体功能障碍有关

期刊:Journal of Translational Medicine
影响因子:7.5
doi:10.1186/s12967-026-07808-9
Radenkovic, Silvia; Preston, Graeme; Budhraja, Rohit; Muffels, Irena; Ligezka, Anna; Staff, Nathan P; Hrstka, Ron; Balakrishnan, Bijina; Shah, Rameen; Verberkmoes, Sanne; Shammas, Ibrahim; Bosnyak, Inez; Stiers, Kyle M; Lai, Kent; Beamer, Lesa J; Pandey, Akhilesh; Morava, Eva; Kozicz, Tamas
细胞生物学
线粒体
发表日期：2026
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Reversible Metabolic and Liver Disease in Complex III Deficiency: Novel Variants Expand the Reported UQCRC2-Associated Phenotype

复合物 III 缺陷引起的可逆性代谢和肝脏疾病：新变异扩展了已报道的 UQCRC2 相关表型

期刊:Cells
影响因子:5.2
doi:10.3390/cells15070596
Preston, Graeme; Shammas, Ibrahim; Pinto E Vairo, Filippo; Ligezka, Anna; Aschoff, Carlos Alberto de Moura; Poswar, Fabiano; Schwartz, Ida Vanessa D; Kozicz, Tamas; Morava, Eva
代谢
发表日期：2026
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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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Albumin as a glycoprotein biomarker in congenital disorders of glycosylation

白蛋白作为先天性糖基化障碍中的糖蛋白生物标志物

期刊:Molecular Genetics and Metabolism
影响因子:3.5
doi:10.1016/j.ymgme.2026.109846
Garapati, Kishore; Jain, Anu; Joshi, Neha; Sachdeva, Gunveen S; Nam, Dowoon; Saraswat, Mayank; Pasupuleti, Raghavendra Rao; Schultz, Matthew J; Kozicz, Tamas; Morava, Eva; Pandey, Akhilesh
发表日期：2026
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Blood mitochondrial heteroplasmic variants and cognitive performance in late midlife: REGARDS study

血液线粒体异质性变异与中年晚期认知能力：REGARDS 研究

期刊:BMC Neurology
影响因子:2.2
doi:10.1186/s12883-026-04857-x
Prada, Diddier; Morava-Kozicz, Eva; Rajendrakumar, Aravind Lathika; Kupsco, Allison; Lesseur, Corina; Irizar, Haritz; Cantú-de-Leon, David; García-Cuellar, Claudia; Ramírez, Andrea; González-Ruíz, Jonathan; Horowitz, Carol R; Cushman, Mary; Manly, Jennifer; Judd, Suzanne; Bagiella, Emilia; Baccarelli, Andrea; Parks, Robbie
线粒体
神经科学
发表日期：2026
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Drivers of Diagnostic Delay in Mitochondrial Disease: Missed Recognition of Canonical Features

线粒体疾病诊断延迟的驱动因素：未能识别典型特征

期刊:JIMD Reports
影响因子:1.8
doi:10.1002/jmd2.70068
Tinker, Rory J; Jacob, Neil; Syed, Mohammad Ghouse; Kelkar, Janhawi; Donnelly, Colleen; Elsharkawi, Ibrahim; Ganesh, Jaya; Gelb, Bruce D; Pejaver, Vikas; Kozicz, Tamas; Morava, Eva
线粒体
发表日期：2026
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Multilevel impairment of mitochondrial respiration with sex-specific signatures in inclusion body myositis

包涵体肌炎中线粒体呼吸的多层次损伤及其性别特异性特征

期刊:
影响因子:
doi:10.64898/2026.02.18.706692
Shammas, Ibrahim; Iaali, Hazem; Watzlawik, Jens O; Folch, Noemi Vidal; Dasari, Surendra; Preston, Graeme; Nguyen, Thi Kim Oanh; Springer, Wolfdieter; Kozicz, Tamas; Hasadsri, Linda; Trushina, Eugenia; Lanza, Ian R; Naddaf, Elie
线粒体
发表日期：2026
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Pseudohypoxia-Stabilized HIF2α Transcriptionally Inhibits MNRR1, a Druggable Target in MELAS.

假性缺氧稳定 HIF2α 转录抑制 MNRR1，MNRR1 是 MELAS 中的可药物靶点

期刊:Cells
影响因子:5.2
doi:10.3390/cells14141078
Purandare Neeraja, Pasupathi Vignesh, Xi Yue, Rajan Vikram, Vegh Caleb, Firestine Steven, Kozicz Tamas, Fribley Andrew M, Grossman Lawrence I, Aras Siddhesh
信号转导
发表日期：2025
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Are viral vector-mediated therapies compatible with aberrant glycosylation?

病毒载体介导的疗法是否与异常糖基化兼容？

期刊:Molecular Therapy-Methods & Clinical Development
影响因子:4.7
doi:10.1016/j.omtm.2025.101540
Muffels, I J J; Budhraja, R; Radenkovic, S; Shah, R; Pandey, A; Morava, E; Kozicz, T
微生物学
发表日期：2025
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Goal attainment in PMM2-CDG: A new approach measuring meaningful clinical outcomes

PMM2-CDG 中的目标达成情况：一种衡量有意义临床结果的新方法

期刊:Molecular Genetics and Metabolism
影响因子:3.5
doi:10.1016/j.ymgme.2025.109087
Verberkmoes, Sanne; Mazza, Gina L; Edmondson, Andrew C; Scaglia, Fernando; Horikoshi, Seishu; Kuschel, Bryce; Janssen, Mirian C H; Mousa, Jehan; Larson, Austin; Shah, Rameen; McDonald, Georgia; Sarafoglou, Kyriaki; Berry, Gerard; Kozicz, Tamas; Lam, Christina; Morava, Eva
多发性骨髓瘤
发表日期：2025
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