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

Beyond the interferon score: neurofilament light chain and glial fibrillary acidic protein capture immune-mediated neuroinjury and response to JAK inhibition in Aicardi-Goutières syndrome

除了干扰素评分之外：神经丝轻链和胶质纤维酸性蛋白可反映免疫介导的神经损伤以及Aicardi-Goutières综合征对JAK抑制剂的反应。

期刊:Frontiers in Immunology
影响因子:5.9
doi:10.3389/fimmu.2026.1782352
Wege, Lisa; Klemann, Christian; Siegert, Sandy; Bley, Annette; Koss, Sarah; Koy, Anne; Langer, Thorsten; Dunst, Franziska; Plecko, Barbara; Fleger, Martin; Speth, Fabian; Niehues, Tim; Kaufmann, Peter; Schultz, Jurek; Attia, Mohammed; Stoffels, Johannes; Wolska-Kuśnierz, Beata; Rolke, Roman; Reichelt, Gabriele; Blankenburg, Friederike; Brunner, Jürgen; Akgün, Katja; Wolf, Christine; Lee-Kirsch, Min Ae
免疫/内分泌
神经科学
JAK/STAT
神经损伤
发表日期：2026
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Multi-omics profiling in spinal muscular atrophy (SMA): investigating lipid and metabolic alterations through longitudinal CSF analysis of Nusinersen-treated patients

脊髓性肌萎缩症 (SMA) 的多组学分析：通过对接受 Nusinersen 治疗的患者进行脑脊液纵向分析，研究脂质和代谢变化

期刊:Journal of Neurology
影响因子:4.6
doi:10.1007/s00415-025-12909-4
Zandl-Lang, Martina; Züllig, Thomas; Holzer, Michael; Eichmann, Thomas O; Darnhofer, Barbara; Schwerin-Nagel, Annette; Zobel, Joachim; Haidl, Harald; Biebl, Ariane; Köfeler, Harald; Plecko, Barbara
代谢
肌萎缩症
神经科学
发表日期：2025
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Efficacy and safety of gene therapy with onasemnogene abeparvovec in children with spinal muscular atrophy in the D-A-CH-region: a population-based observational study

一项基于人群的观察性研究：在DA-CH区域患有脊髓性肌萎缩症的儿童中，使用onasemnogene abeparvovec进行基因治疗的疗效和安全性

期刊:Lancet Regional Health-Europe
影响因子:13
doi:10.1016/j.lanepe.2024.101092
Weiß, Claudia; Becker, Lena-Luise; Friese, Johannes; Blaschek, Astrid; Hahn, Andreas; Illsinger, Sabine; Schwartz, Oliver; Bernert, Günther; Hagen, Maja von der; Husain, Ralf A; Goldhahn, Klaus; Kirschner, Janbernd; Pechmann, Astrid; Flotats-Bastardas, Marina; Schreiber, Gudrun; Schara, Ulrike; Plecko, Barbara; Trollmann, Regina; Horber, Veronka; Wilichowski, Ekkehard; Baumann, Matthias; Klein, Andrea; Eisenkölbl, Astrid; Köhler, Cornelia; Stettner, Georg M; Cirak, Sebahattin; Hasselmann, Oswald; Kaindl, Angela M; Garbade, Sven F; Johannsen, Jessika; Ziegler, Andreas
神经科学
基因治疗
肌萎缩症
发表日期：2024
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A novel homozygous missense variant in ARSK causes MPS X, a new subtype of mucopolysaccharidosis

ARSK基因中一种新的纯合错义变异导致了MPS X，这是一种新的粘多糖贮积症亚型。

期刊:Genes and Diseases
影响因子:
doi:10.1016/j.gendis.2023.06.003
Sun, Miao; Kaminsky, Cornelia K; Deppe, Philip; Ilse, Mai-Britt; Vaz, Frédéric M; Plecko, Barbara; Lübke, Torben; Randolph, Linda M
发表日期：2024
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Lipidomics-Paving the Road towards Better Insight and Precision Medicine in Rare Metabolic Diseases

脂质组学——为更深入地了解罕见代谢疾病和实现精准医疗铺平道路

期刊:International Journal of Molecular Sciences
影响因子:4.9
doi:10.3390/ijms24021709
Zandl-Lang, Martina; Plecko, Barbara; Köfeler, Harald
代谢
发表日期：2023
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Metabolomics analysis of antiquitin deficiency in cultured human cells and plasma: Relevance to pyridoxine-dependent epilepsy

代谢组学分析培养的人类细胞和血浆中抗喹啉缺乏症：与吡哆醇依赖性癫痫的相关性

期刊:Journal of Inherited Metabolic Disease
影响因子:3.8
doi:10.1002/jimd.12569
Crowther, Lisa M; Poms, Martin; Zandl-Lang, Martina; Abela, Lucia; Hartmann, Hans; Seiler, Michelle; Mathis, Déborah; Plecko, Barbara
细胞生物学
癫痫
神经科学
代谢
发表日期：2023
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Untargeted plasma metabolomics identifies broad metabolic perturbations in glycogen storage disease type I

非靶向血浆代谢组学分析揭示了I型糖原贮积症中广泛的代谢紊乱。

期刊:Journal of Inherited Metabolic Disease
影响因子:3.8
doi:10.1002/jimd.12451
Mathis, Tamara; Poms, Martin; Köfeler, Harald; Gautschi, Matthias; Plecko, Barbara; Baumgartner, Matthias R; Hochuli, Michel
代谢
发表日期：2022
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100 years of inherited metabolic disorders in Austria-A national registry of minimal birth prevalence, diagnosis, and clinical outcome of inborn errors of metabolism in Austria between 1921 and 2021

奥地利遗传代谢病百年史——1921年至2021年间奥地利先天性代谢缺陷最低出生患病率、诊断和临床结果的国家登记册

期刊:Journal of Inherited Metabolic Disease
影响因子:3.8
doi:10.1002/jimd.12442
Ramoser, Gabriele; Caferri, Federica; Radlinger, Bernhard; Brunner-Krainz, Michaela; Herbst, Sybille; Huemer, Martina; Hufgard-Leitner, Miriam; Kircher, Susanne G; Konstantopoulou, Vassiliki; Löscher, Wolfgang; Möslinger, Dorothea; Plecko, Barbara; Spenger, Johannes; Stulnig, Thomas; Sunder-Plassmann, Gere; Wortmann, Saskia; Scholl-Bürgi, Sabine; Karall, Daniela
代谢
发表日期：2022
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Changes in the Cerebrospinal Fluid and Plasma Lipidome in Patients with Rett Syndrome

雷特综合征患者脑脊液和血浆脂质组的变化

期刊:Metabolites
影响因子:3.7
doi:10.3390/metabo12040291
Zandl-Lang, Martina; Züllig, Thomas; Trötzmüller, Martin; Naegelin, Yvonne; Abela, Lucia; Wilken, Bernd; Scholl-Buergi, Sabine; Karall, Daniela; Kappos, Ludwig; Köfeler, Harald; Plecko, Barbara
神经科学
发表日期：2022
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Novel subtype of mucopolysaccharidosis caused by arylsulfatase K (ARSK) deficiency

由芳基硫酸酯酶K (ARSK) 缺乏引起的新型粘多糖贮积症亚型

期刊:Journal of Medical Genetics
影响因子:3.7
doi:10.1136/jmedgenet-2021-108061
Verheyen, Sarah; Blatterer, Jasmin; Speicher, Michael R; Bhavani, Gandham SriLakshmi; Boons, Geert-Jan; Ilse, Mai-Britt; Andrae, Dominik; Sproß, Jens; Vaz, Frédéric Maxime; Kircher, Susanne G; Posch-Pertl, Laura; Baumgartner, Daniela; Lübke, Torben; Shah, Hitesh; Al Kaissi, Ali; Girisha, Katta M; Plecko, Barbara
发表日期：2022
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