Associated Papers
Long-read sequencing identifies copy-specific markers of SMN gene conversion in spinal muscular atrophy.
Zwartkruis MM et al.
Genome Medicine, 2025
The phospho-landscape of the survival of motoneuron protein (SMN) protein: relevance for spinal muscular atrophy (SMA).
Detering NT et al.
Cellular and Molecular Life Sciences : Cmls, 2022
Revealing diverse alternative splicing variants of the highly homologous SMN1 and SMN2 genes by targeted long-read sequencing.
Dai M et al.
Molecular Genetics and Genomics : Mgg, 2022
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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