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

Small molecule 1a reduces FMRpolyG-mediated toxicity in in vitro and in vivo models for FMR1 premutation.

小分子 1a 可降低 FMRpolyG 介导的 FMR1 前突变体外和体内模型的毒性

Haify Saif N, Buijsen Ronald A M, Verwegen Lucas, Severijnen Lies-Anne W F M, de Boer Helen, Boumeester Valerie, Monshouwer Roos, Yang Wang-Yong, Cameron Michael D, Willemsen Rob, Disney Matthew D, Hukema Renate K

Lentiviral Hematopoietic Stem Cell Gene Therapy Corrects Murine Pompe Disease

慢病毒造血干细胞基因疗法可纠正小鼠庞贝氏症

Stok, Merel; de Boer, Helen; Huston, Marshall W; Jacobs, Edwin H; Roovers, Onno; Visser, Trudi P; Jahr, Holger; Duncker, Dirk J; van Deel, Elza D; Reuser, Arnold J J; van Til, Niek P; Wagemaker, Gerard

Paradoxical effect of baclofen on social behavior in the fragile X syndrome mouse model

巴氯芬对脆性X综合征小鼠模型社会行为的矛盾效应

Zeidler, Shimriet; Pop, Andreea S; Jaafar, Israa A; de Boer, Helen; Buijsen, Ronald A M; de Esch, Celine E F; Nieuwenhuizen-Bakker, Ingeborg; Hukema, Renate K; Willemsen, Rob

Combination Therapy in Fragile X Syndrome; Possibilities and Pitfalls Illustrated by Targeting the mGluR5 and GABA Pathway Simultaneously

脆性X综合征的联合治疗:同时靶向mGluR5和GABA通路的可能性和陷阱

Zeidler, Shimriet; de Boer, Helen; Hukema, Renate K; Willemsen, Rob

A modified γ-retrovirus vector for X-linked severe combined immunodeficiency

用于治疗X连锁重症联合免疫缺陷的改良型γ逆转录病毒载体

Hacein-Bey-Abina, Salima; Pai, Sung-Yun; Gaspar, H Bobby; Armant, Myriam; Berry, Charles C; Blanche, Stephane; Bleesing, Jack; Blondeau, Johanna; de Boer, Helen; Buckland, Karen F; Caccavelli, Laure; Cros, Guilhem; De Oliveira, Satiro; Fernández, Karen S; Guo, Dongjing; Harris, Chad E; Hopkins, Gregory; Lehmann, Leslie E; Lim, Annick; London, Wendy B; van der Loo, Johannes C M; Malani, Nirav; Male, Frances; Malik, Punam; Marinovic, M Angélica; McNicol, Anne-Marie; Moshous, Despina; Neven, Benedicte; Oleastro, Matías; Picard, Capucine; Ritz, Jerome; Rivat, Christine; Schambach, Axel; Shaw, Kit L; Sherman, Eric A; Silberstein, Leslie E; Six, Emmanuelle; Touzot, Fabien; Tsytsykova, Alla; Xu-Bayford, Jinhua; Baum, Christopher; Bushman, Frederic D; Fischer, Alain; Kohn, Donald B; Filipovich, Alexandra H; Notarangelo, Luigi D; Cavazzana, Marina; Williams, David A; Thrasher, Adrian J

Flow cytometry diagnosis of dedicator of cytokinesis 8 (DOCK8) deficiency

流式细胞术诊断胞质分裂调节因子 8 (DOCK8) 缺乏症

Pai, Sung-Yun; de Boer, Helen; Massaad, Michel J; Chatila, Talal A; Keles, Sevgi; Jabara, Haifa H; Janssen, Erin; Lehmann, Leslie E; Hanna-Wakim, Rima; Dbaibo, Ghassan; McDonald, Douglas R; Al-Herz, Waleed; Geha, Raif S

Pretransplant mobilization with granulocyte colony-stimulating factor improves B-cell reconstitution by lentiviral vector gene therapy in SCID-X1 mice

在SCID-X1小鼠中,移植前使用粒细胞集落刺激因子进行动员可改善慢病毒载体基因治疗后的B细胞重建。

Huston, Marshall W; Riegman, Adriaan R A; Yadak, Rana; van Helsdingen, Yvette; de Boer, Helen; van Til, Niek P; Wagemaker, Gerard

Expanding the spectrum of recombination-activating gene 1 deficiency: a family with early-onset autoimmunity

扩大重组激活基因1缺陷的谱系:一个患有早发性自身免疫性疾病的家族

Henderson, Lauren A; Frugoni, Francesco; Hopkins, Gregory; de Boer, Helen; Pai, Sung-Yun; Lee, Yu Nee; Walter, Jolan E; Hazen, Melissa M; Notarangelo, Luigi D