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

DMD antisense oligonucleotide mediated exon skipping efficiency correlates with flanking intron retention time and target position within the exon

DMD 反义寡核苷酸介导的外显子跳跃效率与侧翼内含子的保留时间和外显子内的靶标位置相关

Remko Goossens, Nisha Verwey, Yavuz Ariyurek, Fred Schnell, Annemieke Aartsma-Rus

Histone deacetylase inhibitors improve antisense-mediated exon-skipping efficacy in mdx mice

组蛋白去乙酰化酶抑制剂可提高 mdx 小鼠中反义介导的外显子跳跃功效

Flavien Bizot, Remko Goossens, Thomas Tensorer, Sergei Dmitriev, Luis Garcia, Annemieke Aartsma-Rus, Pietro Spitali, Aurélie Goyenvalle

A proteomics study identifying interactors of the FSHD2 gene product SMCHD1 reveals RUVBL1-dependent DUX4 repression

一项蛋白质组学研究鉴定了FSHD2基因产物SMCHD1的相互作用蛋白,揭示了RUVBL1依赖的DUX4抑制作用。

Remko Goossens,Mara S Tihaya,Anita van den Heuvel,Klorane Tabot-Ndip,Iris M Willemsen,Stephen J Tapscott,Román González-Prieto,Jer-Gung Chang,Alfred C O Vertegaal,Judit Balog,Silvère M van der Maarel

Homozygous nonsense variant in LRIF1 associated with facioscapulohumeral muscular dystrophy

LRIF1 纯合无义变异与面肩肱型肌营养不良症相关

Kohei Hamanaka, Darina Šikrová, Satomi Mitsuhashi, Hiroki Masuda, Yukari Sekiguchi, Atsuhiko Sugiyama, Kazumoto Shibuya, Richard J L F Lemmers, Remko Goossens, Megumu Ogawa, Koji Nagao, Chikashi Obuse, Satoru Noguchi, Yukiko K Hayashi, Satoshi Kuwabara, Judit Balog, Ichizo Nishino, Silvère M van der

Monosomy 18p is a risk factor for facioscapulohumeral dystrophy

18p 单体性是面肩肱型营养不良症的危险因素

Judit Balog, Remko Goossens, Richard J L F Lemmers, Kirsten R Straasheijm, Patrick J van der Vliet, Anita van den Heuvel, Chiara Cambieri, Nicolas Capet, Léonard Feasson, Veronique Manel, Julian Contet, Marjolein Kriek, Colleen M Donlin-Smith, Claudia A L Ruivenkamp, Patricia Heard, Stephen J Tapsco