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

Can Alpha-Glucosidase Activity in Plasma or Leukocytes Serve as a Biomarker for Future Gene Therapy in Classic Infantile Pompe Disease?

血浆或白细胞中的α-葡萄糖苷酶活性能否作为经典婴儿型庞贝病未来基因治疗的生物标志物？

期刊:BioDrugs
影响因子:6.9
doi:10.1007/s40259-025-00757-7
Faraguna, Martha C; Lambregts, Daniël A M; Barzel, Ina; Jacobs, Ed H; Hoogeveen-Westerveld, Marianne; van der Beek, Nadine A M E; Pijnappel, W W M Pim; Gasperini, Serena; Preijers, Tim; van den Hout, Johanna M P; van der Ploeg, Ans T
细胞生物学
基因治疗
发表日期：2026
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Correction: Can Alpha-Glucosidase Activity in Plasma or Leukocytes Serve as a Biomarker for Future Gene Therapy in Classic Infantile Pompe Disease?

更正：血浆或白细胞中的α-葡萄糖苷酶活性能否作为经典婴儿型庞贝病未来基因治疗的生物标志物？

期刊:BioDrugs
影响因子:6.9
doi:10.1007/s40259-025-00760-y
Faraguna, Martha C; Lambregts, Daniël A M; Barzel, Ina; Jacobs, Ed H; Hoogeveen-Westerveld, Marianne; van der Beek, Nadine A M E; Pijnappel, W W M Pim; Gasperini, Serena; Preijers, Tim; van den Hout, Johanna M P; van der Ploeg, Ans T
细胞生物学
基因治疗
发表日期：2026
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GMPPB-CDG Results in Lysosomal Dysfunction and Acid Alpha-Glucosidase Deficiency.

GMPPB-CDG 导致溶酶体功能障碍和酸性α-葡萄糖苷酶缺乏。

期刊:Journal of Inherited Metabolic Disease
影响因子:3.8
doi:10.1002/jimd.70136
Damiano Carla, Tarallo Antonietta, Gragnaniello Vincenza, Strollo Sandra, Fecarotta Simona, Tuzzi M Rosaria, Polishchuk Elena, Montefusco Sandro, Valanzano Anna, Assunto Antonia, Minopoli Nadia, Casa Roberto Della, Polishchuk Roman, Groen Stijn L M In 't, Medina Diego Luis, Bertini Enrico, Carrozzo Rosalba, Emmerich Julia, Schoser Benedikt, Pijnappel W W M Pim, Parenti Giancarlo
溶酶体功能
发表日期：2026
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Three-dimensional tissue engineered skeletal muscle modelling facioscapulohumeral muscular dystrophy

三维组织工程骨骼肌模型面肩肱型肌营养不良症

期刊:Brain
影响因子:11.7
doi:10.1093/brain/awae379
Franken, Marnix; van der Wal, Erik; Zheng, Dongxu; den Hamer, Bianca; van der Vliet, Patrick J; Lemmers, Richard J L F; van den Heuvel, Anita; Dorn, Alexandra L; Duivenvoorden, Cas G A; In 't Groen, Stijn L M; Freund, Christian; Eussen, Bert; Tawil, Rabi; van Engelen, Baziel G M; Pijnappel, W W M Pim; van der Maarel, Silvère M; de Greef, Jessica C
发表日期：2025
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Domain-substituted IGF2 tag modulates targeting of lentiviral gene therapy for Hunter syndrome.

结构域替换的IGF2标签调节慢病毒基因疗法对亨特综合征的靶向治疗。

期刊:EMBO Molecular Medicine
影响因子:8.3
doi:10.1038/s44321-025-00314-3
Catalano Fabio, Stevic Dejan, Zundo Giacomo, Huizer Tessa F, Dammou Zina, Vlaar Eva C, Katsavelis Drosos, van den Bosch Jeroen C, van den Hout Hannerieke J M P, Oussoren Esmeralda, van der Ploeg Ans T, Ruijter George J G, Schaaf Gerben, Pijnappel W W M Pim
微生物学
发表日期：2025
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A knock down strategy for rapid, generic, and versatile modelling of muscular dystrophies in 3D-tissue-engineered-skeletal muscle

一种快速、通用且多功能的 3D 组织工程骨骼肌肌营养不良症建模的击倒策略

期刊:Skeletal Muscle
影响因子:5.3
doi:10.1186/s13395-024-00335-5
Stijn L M In 't Groen, Marnix Franken, Theresa Bock, Marcus Krüger, Jessica C de Greef, W W M Pim Pijnappel
3D/类器官
发表日期：2024
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Lentiviral Gene Therapy for Mucopolysaccharidosis II with Tagged Iduronate 2-Sulfatase Prevents Life-Threatening Pathology in Peripheral Tissues But Fails to Correct Cartilage

利用标记的艾杜糖醛酸-2-硫酸酯酶进行粘多糖贮积症II型的慢病毒基因治疗可预防外周组织中危及生命的病变，但无法纠正软骨病变。

期刊:Human Gene Therapy
影响因子:
doi:10.1089/hum.2023.177
Catalano, Fabio; Vlaar, Eva C; Dammou, Zina; Katsavelis, Drosos; Huizer, Tessa F; Zundo, Giacomo; Hoogeveen-Westerveld, Marianne; Oussoren, Esmeralda; van den Hout, Hannerieke J M P; Schaaf, Gerben; Pike-Overzet, Karin; Staal, Frank J T; van der Ploeg, Ans T; Pijnappel, W W M Pim
微生物学
基因治疗
发表日期：2024
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Highly contractile 3D tissue engineered skeletal muscles from human iPSCs reveal similarities with primary myoblast-derived tissues

来自人类 iPSC 的高度收缩性 3D 组织工程骨骼肌与原代成肌细胞衍生组织具有相似性

期刊:Stem Cell Reports
影响因子:5.9
doi:10.1016/j.stemcr.2023.08.014
Erik van der Wal, Alessandro Iuliano, Stijn L M In 't Groen, Anjali P Bholasing, Dominik Priesmann, Preeti Sharma, Bianca den Hamer, Vittorio Saggiomo, Marcus Krüger, W W M Pim Pijnappel, Jessica C de Greef
免疫
细胞生物学
其它细胞
发表日期：2023
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Tagged IDS causes efficient and engraftment-independent prevention of brain pathology during lentiviral gene therapy for Mucopolysaccharidosis type II

标记的 IDS 可在慢病毒基因治疗 II 型粘多糖贮积症期间有效且不依赖植入而预防脑部病变

期刊:Molecular Therapy-Methods & Clinical Development
影响因子:
doi:10.1016/j.omtm.2023.101149
Fabio Catalano, Eva C Vlaar, Drosos Katsavelis, Zina Dammou, Tessa F Huizer, Jeroen C van den Bosch, Marianne Hoogeveen-Westerveld, Hannerieke J M P van den Hout, Esmeralda Oussoren, George J G Ruijter, Gerben Schaaf, Karin Pike-Overzet, Frank J T Staal, Ans T van der Ploeg, W W M Pim Pijnappel
微生物学
发表日期：2023
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Antibodies against recombinant human alpha-glucosidase do not seem to affect clinical outcome in childhood onset Pompe disease

针对重组人α-葡萄糖苷酶的抗体似乎并不影响儿童期发病庞贝病的临床结局。

期刊:Orphanet Journal of Rare Diseases
影响因子:3.5
doi:10.1186/s13023-022-02175-2
van Kooten, Harmke A; Ditters, Imke A M; Hoogeveen-Westerveld, Marianne; Jacobs, Edwin H; van den Hout, Johanna M P; van Doorn, Pieter A; Pijnappel, W W M Pim; van der Ploeg, Ans T; van der Beek, Nadine A M E
发表日期：2022
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