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

Phase 2b program with sonlicromanol in patients with mitochondrial disease due to m.3243A>G mutation

针对因 m.3243A>G 突变引起的线粒体疾病患者，开展了 sonlicromanol 的 IIb 期临床试验项目。

期刊:Brain
影响因子:11.7
doi:10.1093/brain/awae277
Smeitink, Jan; van Es, Just; Bosman, Brigitte; Janssen, Mirian C H; Klopstock, Thomas; Gorman, Grainne; Vissing, John; Ruiterkamp, Gerrit; Edgar, Chris J; Abbink, Evertine J; van Maanen, Rob; Pogoryelova, Oksana; Stendel, Claudia; Bischoff, Almut; Karin, Ivan; Munshi, Mahtab; Kümmel, Anne; Burgert, Lydia; Verhaak, Christianne; Renkema, Herma
线粒体
发表日期：2025
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Measurement of Twitch Dynamics in Response to Exercise Induced Changes in Mitochondrial Disease Using Motor Unit Magnetic Resonance Imaging (MUMRI): A Proof-of-Concept Study

利用运动单元磁共振成像（MUMRI）测量线粒体疾病中运动诱发变化引起的肌肉收缩动力学：概念验证研究

期刊:NMR in Biomedicine
影响因子:2.7
doi:10.1002/nbm.70021
Birkbeck, Matthew G; Elameer, Mathew; Heskamp, Linda; Newman, Jane; Stefanetti, Renae J; Barrow, Isabel; Pogoryelova, Oksana; Gorman, Gráinne S; Hall, Julie; Schofield, Ian S; Blamire, Andrew M; Whittaker, Roger G
线粒体
发表日期：2025
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Ion Mobility QTOF-MS Untargeted Lipidomics of Human Serum Reveals a Metabolic Fingerprint for GNE Myopathy

离子迁移率QTOF-MS非靶向人血清脂质组学揭示GNE肌病代谢指纹图谱

期刊:Molecules
影响因子:4.6
doi:10.3390/molecules29215211
Manis, Cristina; Casula, Mattia; Roos, Andreas; Hentschel, Andreas; Vorgerd, Matthias; Pogoryelova, Oksana; Derksen, Alexa; Spendiff, Sally; Lochmüller, Hanns; Caboni, Pierluigi
Human
多发性硬化症
代谢
发表日期：2024
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GNE Myopathy: Genotype - Phenotype Correlation and Disease Progression in an Indian Cohort

GNE肌病：印度人群中基因型-表型相关性及疾病进展

期刊:Journal of Neuromuscular Diseases
影响因子:3.4
doi:10.3233/JND-230130
Baskar, Dipti; Reddy, Nishanth; Preethish-Kumar, Veeramani; Polavarapu, Kiran; Nishadham, Vikas; Vengalil, Seena; Nashi, Saraswati; Sanka, Sai Bhargava; Bardhan, Mainak; Huddar, Akshata; Unnikrishnan, Gopikrishnan; Harikrishna, Ganaraja Valakunja; Gunasekaran, Swetha; Thomas, Priya Treesa; Keerthipriya, Muddasu Suhasini; Girija, Manu Santhappan; Arunachal, Gautham; Anjanappa, Ram Murthy; Nishino, Ichizo; Pogoryelova, Oksana; Lochmuller, Hanns; Nalini, Atchayaram
发表日期：2024
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NCAM1 and GDF15 are biomarkers of Charcot-Marie-Tooth disease in patients and mice

NCAM1 和 GDF15 是夏科-马里-图斯病患者和小鼠的生物标志物。

期刊:Brain
影响因子:10.6
doi:10.1093/brain/awac055
Matthew J Jennings ,Alexia Kagiava ,Leen Vendredy ,Emily L Spaulding ,Marina Stavrou ,Denisa Hathazi ,Anika Grüneboom ,Vicky De Winter ,Burkhard Gess ,Ulrike Schara ,Oksana Pogoryelova ,Hanns Lochmüller ,Christoph H Borchers ,Andreas Roos ,Robert W Burgess ,Vincent Timmerman ,Kleopas A Kleopa ,Rita Horvath
NCAM1
发表日期：2022
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Results from a 3-year Non-interventional, Observational Disease Monitoring Program in Adults with GNE Myopathy

一项针对患有GNE肌病的成年人的为期3年的非干预性观察性疾病监测计划的结果

期刊:Journal of Neuromuscular Diseases
影响因子:3.4
doi:10.3233/JND-200565
Lochmüller, Hanns; Behin, Anthony; Tournev, Ivailo; Tarnopolsky, Mark; Horváth, Rita; Pogoryelova, Oksana; Shah, Jinay; Koutsoukos, Tony; Skrinar, Alison; Kakkis, Emil; Bedrosian, Camille L; Mozaffar, Tahseen
发表日期：2021
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A phase 3 randomized study evaluating sialic acid extended-release for GNE myopathy

一项评估唾液酸缓释剂治疗GNE肌病的3期随机研究

期刊:Neurology
影响因子:8.5
doi:10.1212/WNL.0000000000006932
Lochmüller, Hanns; Behin, Anthony; Caraco, Yoseph; Lau, Heather; Mirabella, Massimiliano; Tournev, Ivailo; Tarnopolsky, Mark; Pogoryelova, Oksana; Woods, Catherine; Lai, Alexander; Shah, Jinay; Koutsoukos, Tony; Skrinar, Alison; Mansbach, Hank; Kakkis, Emil; Mozaffar, Tahseen
发表日期：2019
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GNE genotype explains 20% of phenotypic variability in GNE myopathy

GNE基因型可解释GNE肌病20%的表型变异。

期刊:Neurology-Genetics
影响因子:3.7
doi:10.1212/NXG.0000000000000308
Pogoryelova, Oksana; Wilson, Ian J; Mansbach, Hank; Argov, Zohar; Nishino, Ichizo; Lochmüller, Hanns
发表日期：2019
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GNE myopathy: from clinics and genetics to pathology and research strategies

GNE肌病：从临床和遗传学到病理学和研究策略

期刊:Orphanet Journal of Rare Diseases
影响因子:3.5
doi:10.1186/s13023-018-0802-x
Pogoryelova, Oksana; González Coraspe, José Andrés; Nikolenko, Nikoletta; Lochmüller, Hanns; Roos, Andreas
发表日期：2018
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Phenotypic stratification and genotype-phenotype correlation in a heterogeneous, international cohort of GNE myopathy patients: First report from the GNE myopathy Disease Monitoring Program, registry portion

GNE肌病患者异质性国际队列的表型分层和基因型-表型相关性：GNE肌病疾病监测计划登记部分的首份报告

期刊:Neuromuscular Disorders
影响因子:2.8
doi:10.1016/j.nmd.2017.11.001
Pogoryelova, Oksana; Cammish, Phillip; Mansbach, Hank; Argov, Zohar; Nishino, Ichizo; Skrinar, Alison; Chan, Yiumo; Nafissi, Shahriar; Shamshiri, Hosein; Kakkis, Emil; Lochmüller, Hanns
发表日期：2018
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