Associated Papers
Clinically discordant siblings with spinal muscular atrophy: insights from their patient-specific iPSC-derived motor neurons and literature review.
Cook SL et al.
Neuromuscular Disorders : Nmd, 2026
Long-read sequencing identifies copy-specific markers of SMN gene conversion in spinal muscular atrophy.
Zwartkruis MM et al.
Genome Medicine, 2025
High-throughput screening reveals novel mutations in spinal muscular atrophy patients.
Zhang R et al.
Italian Journal of Pediatrics, 2020
Intragenic and structural variation in the SMN locus and clinical variability in spinal muscular atrophy.
Wadman RI et al.
Brain Communications, 2020
Complete sequencing of the SMN2 gene in SMA patients detects SMN gene deletion junctions and variants in SMN2 that modify the SMA phenotype.
Ruhno C et al.
Human Genetics, 2019
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