Evaluation of putative CSF biomarkers in paediatric spinal muscular atrophy (SMA) patients before and during treatment with nusinersen
Author:
Affiliation:
1. Department of Pediatrics University Medical Center Hamburg‐Eppendorf Hamburg Germany
2. Medical Biometry and Epidemiology University Medical Center Hamburg‐Eppendorf Hamburg Germany
Publisher
Wiley
Subject
Cell Biology,Molecular Medicine
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1111/jcmm.16802
Reference46 articles.
1. http://www.ema.europa.eu/en/medicines/human/EPAR/spinraza
2. A single nucleotide difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene SMN2
3. Peripheral SMN restoration is essential for long-term rescue of a severe spinal muscular atrophy mouse model
4. Mildly affected patients with spinal muscular atrophy are partially protected by an increased SMN2 copy number
5. Spectrum of Neuropathophysiology in Spinal Muscular Atrophy Type I
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