Associated Papers
Spinal Muscular Atrophy: Mutations, Testing, and Clinical Relevance.
Keinath MC et al.
The Application of Clinical Genetics, 2021
High-throughput screening reveals novel mutations in spinal muscular atrophy patients.
Zhang R et al.
Italian Journal of Pediatrics, 2020
Intragenic variants in the SMN1 gene determine the clinical phenotype in 5q spinal muscular atrophy.
Mendonça RH et al.
Neurology. Genetics, 2020
Intragenic and structural variation in the SMN locus and clinical variability in spinal muscular atrophy.
Wadman RI et al.
Brain Communications, 2020
Case study of a spinal muscular atrophy type 1 patient retaining one allele of the SMN1 gene.
Yamada H et al.
No to Hattatsu = Brain and Development, 2016
A new method for SMN1 and hybrid SMN gene analysis in spinal muscular atrophy using long-range PCR followed by sequencing.
Kubo Y et al.
Journal of Human Genetics, 2015
Intragenic mutations in SMN1 may contribute more significantly to clinical severity than SMN2 copy numbers in some spinal muscular atrophy (SMA) patients.
Yamamoto T et al.
Brain & Development, 2014
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