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?

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

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?

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

Routine RNA-based analysis of potential splicing variants facilitates genomic diagnostics and reveals limitations of in silico prediction tools

对潜在剪接变体进行常规的基于RNA的分析有助于基因组诊断,并揭示计算机预测工具的局限性。

Drost, Mark; Dekker, Jordy; Ferraro, Federico; Kasteleijn, Esmee; Verschuren, Marije; Kroon, Evelien; Douben, Hannie C W; Vogt, Inte; van Unen, Leontine; Hoogeveen-Westerveld, Marianne; Elfferich, Peter; Schot, Rachel; Calandrini, Camilla; Korpershoek, Esther; Sleutels, Frank; Brüggenwirth, Hennie B R; Hollink, Iris R; Meerstein-Kessel, Lisette; Hoefsloot, Lies H; van Slegtenhorst, Marjon; Wilke, Martina; Weerts, Marjolein J A; van Minkelen, Rick; Wagner, Anja; Bouman, Arjan; van Paassen, Barbara W; Verheijen-Mancini, Grazia M; van de Laar, Ingrid M B H; Kievit, Anneke J A; Verhagen, Judith M A; Stuurman, Kyra E; Donker Kaat, Laura; van Dooren, Marieke F; Wessels, Marja W; Oldenburg, Rogier A; Zeidler, Shimriet; van Dijk, Tessa; Barakat, Tahsin Stefan; Verhoeven, Virginie J M; van Bever, Yolande; van Ierland, Yvette; Bannink, Natalja; van Koningsbruggen, Silvana; Lakeman, Phillis; Leeuwen, Lisette; Verbeek, Nienke E; Sinnema, Margje; Heijligers, Malou; van Asperen, Christi J; Saris, Jasper J; Nellist, Mark; van Ham, Tjakko J

Association of Blast‐induced Hearing Loss with Progression of Alzheimer’s Disease Pathology

爆炸性听力损失与阿尔茨海默病病理进展的关联

Overwater, Iris E; Swenker, Rob; van der Ende, Emma L; Hanemaayer, Kimberley Bm; Hoogeveen-Westerveld, Marianne; van Eeghen, Agnies M; Lequin, Maarten H; van den Ouweland, Ans Mw; Moll, Henriëtte A; Nellist, Mark; de Wit, Marie-Claire Y; Fotouhi, Maryam; Sheikh‐Bahaei, Nasim; Choupan, Jeiran; Fotouhi, Maryam; Sheikh‐Bahaei, Nasim; Choupan, Jeiran; Kerr, Nadine A; Sangaletti, Rachele; Walters, Winston; Rajguru, Suhrud M

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。

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

Functional Assays Combined with Pre-mRNA-Splicing Analysis Improve Variant Classification and Diagnostics for Individuals with Neurofibromatosis Type 1 and Legius Syndrome

功能性检测结合前体mRNA剪接分析可提高1型神经纤维瘤病和Legius综合征患者的变异分类和诊断水平

Douben, Hannie; Hoogeveen-Westerveld, Marianne; Nellist, Mark; Louwen, Jesse; Haan, Marian Kroos-de; Punt, Mattijs; van Ommeren, Babeth; van Unen, Leontine; Elfferich, Peter; Kasteleijn, Esmee; van Bever, Yolande; van Vliet, Margreethe; Oostenbrink, Rianne; Saris, Jasper J; Wagner, Anja; van Ierland, Yvette; van Ham, Tjakko; van Minkelen, Rick

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

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

High-yield identification of pathogenic NF1 variants by skin fibroblast transcriptome screening after apparently normal diagnostic DNA testing

通过对表观正常的诊断性DNA检测结果进行皮肤成纤维细胞转录组筛选,可以高效鉴定致病性NF1变异体。

Douben, Hannie C W; Nellist, Mark; van Unen, Leontine; Elfferich, Peter; Kasteleijn, Esmee; Hoogeveen-Westerveld, Marianne; Louwen, Jesse; van Veghel-Plandsoen, Monique; de Valk, Walter; Saris, Jasper J; Hendriks, Femke; Korpershoek, Esther; Hoefsloot, Lies H; van Vliet, Margreethe; van Bever, Yolande; van de Laar, Ingrid; Aten, Emmelien; Lachmeijer, Augusta M A; Taal, Walter; van den Bersselaar, Lisa; Schuurmans, Juliette; Oostenbrink, Rianne; van Minkelen, Rick; van Ierland, Yvette; van Ham, Tjakko J

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。

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

Effects of immunomodulation in classic infantile Pompe patients with high antibody titers

免疫调节对高抗体滴度经典婴儿型庞贝病患者的影响

Poelman, E; Hoogeveen-Westerveld, M; van den Hout, J M P; Bredius, R G M; Lankester, A C; Driessen, G J A; Kamphuis, S S M; Pijnappel, W W M; van der Ploeg, A T