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Fay-Lynn Asselman

Utrecht University
H指数:17
被引数:1,053

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Motor function score changes in severe 5q spinal muscular atrophy during risdiplam treatment: an observational longitudinal nationwide cohort study

在risdiplam治疗期间,严重5q型脊髓性肌萎缩症患者运动功能评分的变化:一项全国性队列纵向观察研究

2026-06-300
OAAI
Long-read sequencing identifies copy-specific markers of SMN gene conversion in spinal muscular atrophy

长读长测序鉴定脊髓性肌萎缩症中SMN基因转换的拷贝特异性标记

2025-03-211
OA
A de novo deletion underlying spinal muscular atrophy: implications for carrier testing and genetic counseling

脊髓性肌萎缩症的从头删除: 对携带者检测和遗传咨询的影响

2025-03-010
OAAI
Lung function decline preceding chronic respiratory failure in spinal muscular atrophy: a national prospective cohort study

脊髓性肌萎缩症患者慢性呼吸衰竭前肺功能下降: 一项全国前瞻性队列研究

2023-02-236
OAAI
Randomized double-blind placebo-controlled crossover trial with pyridostigmine in spinal muscular atrophy types 2-4
2022-12-0913
OAAI
Population-based assessment of nusinersen efficacy in children with spinal muscular atrophy: a 3-year follow-up study

基于人群的nusinersen治疗儿童脊髓性肌萎缩症疗效评估: 一项3年随访研究

2022-10-3123
OAAI