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Masafumi Matsuo

kobe university
H指数:54
被引数:1.1万

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The Need for Variant-Specific Splicing Assessment in Developing Antisense Oligonucleotide Therapies for Duchenne Muscular Dystrophy: Lessons from the DMD c.4675−2A>G Variant

开发杜氏肌营养不良症反义寡核苷酸疗法时进行变异特异性剪接评估的必要性:从DMD c.4675−2A>G变异中得到的启示

2026-11-130
OAAI
3′ untranslated region of ubiquitous dystrophin isoform Dp71 regulates its expression to impact suborganellar localization and mitochondrial morphology

泛在肌营养不良蛋白异构体Dp71的3′非翻译区调控其表达以影响亚细胞器定位和线粒体形态

2026-09-010
OAAI
Urinary titin reflects the severity of walking ability, muscle strength, and muscle and cardiac damage in patients with Becker muscular dystrophy

尿titin反映了Becker肌营养不良患者的行走能力,肌肉力量以及肌肉和心脏损害的严重程度

2025-01-010
PRE
A splice-switching oligonucleotide treatment ameliorates glycogen storage disease type 1a in mice with G6PC c.648G>T
2023-12-011
OAAI
Evaluation of Suspected Autosomal Alport Syndrome Synonymous Variants
2022-03-314
OA