Analysis of the C9orf72 gene in spinal muscular atrophy patients
Author:
Affiliation:
1. Servei de Genètica, Hospital de la Santa Creu i Sant Pau, Barcelona
2. CIBERER (U705), Barcelona
3. IIB Sant Pau, Barcelona
4. Department of Clinical and Molecular Genetics, Hospital Valle Hebron, Barcelona, Spain
Publisher
Informa UK Limited
Subject
Neurology (clinical),Neurology
Link
https://www.tandfonline.com/doi/pdf/10.3109/21678421.2014.929148
Reference33 articles.
1. Spinal muscular atrophy: the RNP connection
2. SMN in spinal muscular atrophy and snRNP biogenesis
3. SMN2 copy number predicts acute or chronic spinal muscular atrophy but does not account for intrafamilial variability in siblings
4. Quantitative Analyses of SMN1 and SMN2 Based on Real-Time LightCycler PCR: Fast and Highly Reliable Carrier Testing and Prediction of Severity of Spinal Muscular Atrophy
5. Mildly affected patients with spinal muscular atrophy are partially protected by an increased SMN2 copy number
Cited by 2 articles. 订阅此论文施引文献 订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献
1. Linking amyotrophic lateral sclerosis and spinal muscular atrophy through RNA-transcriptome homeostasis: a genomics perspective;Journal of Neurochemistry;2017-02-28
2. The Spectrum of C9orf72-mediated Neurodegeneration and Amyotrophic Lateral Sclerosis;Neurotherapeutics;2015-03-03
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