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W. Ludo van der Pol

Utrecht University
H指数:45
被引数:6,375

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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
Intrathecal onasemnogene abeparvovec for treatment-experienced patients with spinal muscular atrophy: a phase 3b, open-label trial

鞘内注射onasemnogene abeparvovec治疗经治脊髓性肌萎缩症患者:一项3b期、开放标签试验

2025-12-080
OAAI
A plain language summary of the SAPPHIRE clinical trial of apitegromab in children and young adults with spinal muscular atrophy

SAPPHIRE临床试验的简明语言摘要,该试验研究apitegromab在儿童和年轻成人脊髓性肌萎缩症患者中的应用。

2025-11-130
OAAI
Safety and efficacy of apitegromab in nonambulatory type 2 or type 3 spinal muscular atrophy (SAPPHIRE): a phase 3, double-blind, randomised, placebo-controlled trial

阿皮特格罗玛ab在非行走型2型或3型脊髓性肌萎缩症中的安全性与有效性(SAPPHIRE研究):一项III期、双盲、随机、安慰剂对照试验

2025-08-130
PRE
Comprehensive analysis across SMN2 excludes DNA methylation as an epigenetic biomarker for spinal muscular atrophy

SMN2综合分析排除了DNA甲基化作为脊髓性肌萎缩症的表观遗传生物标志物的可能性。

2025-05-010
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