Associated Papers
Metabolomics of cerebrospinal fluid reveals candidate diagnostic biomarkers to distinguish between spinal muscular atrophy type II and type III.
Lu M et al.
Cns Neuroscience & Therapeutics, 2024
A high-fidelity long-read sequencing-based approach enables accurate and effective genetic diagnosis of spinal muscular atrophy.
Bai J et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2024
Dual Mechanism of a New SMN1 Variant (c.835G>C, p.Gly279Arg) by Interrupting Exon 7 Skipping and YG Oligomerization in Causation of Spinal Muscular Atrophy.
Bai J et al.
Journal of Molecular Neuroscience : Mn, 2021
Update on Biomarkers in Spinal Muscular Atrophy.
Pino MG et al.
Biomarker Insights, 2021
Intragenic and structural variation in the SMN locus and clinical variability in spinal muscular atrophy.
Wadman RI et al.
Brain Communications, 2020
[Point mutation analysis of SMN1 gene in patients with spinal muscular atrophy].
QU YJ et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2011
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