Average number of SMN copies per population.

NIAID Data Ecosystem2026-03-11 收录

SMN基因拷贝数变异

脊髓性肌萎缩症

数据链接：

https://figshare.com/articles/dataset/Average_number_of_SMN_copies_per_population_/9036461 数据链接链接失效反馈

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Asterisks (*) indicate a significant difference in prevalence.

创建时间：

2019-07-24

SMN deficiency in spinal muscular atrophy causes widespread intron retention and DNA damage

脊髓性肌萎缩症

分子生物学

Spinal muscular atrophy is the leading genetic cause of infant mortality and is caused by homozygous loss of the SMN1 gene. We investigated global transcriptome changes in the spinal cord of inducibl

干细胞与再生医学数据中心2022-02-20 更新80

Comparison of mean and median survival time of SMN mice injected with PMO(-10-34) or Scramble.

脊髓性肌萎缩症

生存分析

Comparison of mean and median survival time of SMN mice injected with PMO(-10-34) or Scramble.

NIAID Data Ecosystem60

Dataset from An Open-label Study to Assess the Safety and Tolerability of ISIS 396443 in Patients With Spinal Muscular Atrophy Who Previously Participated in 396443-CS2 or 396443-CS10

脊髓性肌萎缩症

代谢动力学

The primary objective of this study is to examine the safety and tolerability of nusinersen (ISIS 396443) administered intrathecally to participants with Spinal Muscular Atrophy (SMA) who previously p

NIAID Data Ecosystem20

The impact of early powered mobility training in families and children with Spinal Muscular Atrophy Type I

脊髓性肌萎缩症

辅助技术

This study examined the effects of early powered mobility training using modified ride-on toy cars in young children with Spinal Muscular Atrophy type I (SMA I). A randomized, waitlist-controlled, sin

DataCite Commons2025-08-22 更新60

Additional file 2: Table S1. of Prevalence, incidence and carrier frequency of 5q–linked spinal muscular atrophy – a literature review

脊髓性肌萎缩症

遗传病携带者频率分析

Overview carrier frequencies of SMA. (XLS 94 kb)

Figshare2017-07-18 更新60