Associated Papers
Recent Progress in Gene-Targeting Therapies for Spinal Muscular Atrophy: Promises and Challenges.
Haque US et al.
Genes, 2024
Stability and Oligomerization of Mutated SMN Protein Determine Clinical Severity of Spinal Muscular Atrophy.
Niba ETE et al.
Genes, 2022
The Importance of Digging into the Genetics of SMN Genes in the Therapeutic Scenario of Spinal Muscular Atrophy.
Costa-Roger M et al.
International Journal of Molecular Sciences, 2021
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 and structural variation in the SMN locus and clinical variability in spinal muscular atrophy.
Wadman RI et al.
Brain Communications, 2020
How do SMA-linked mutations of SMN1 lead to structural/functional deficiency of the SMA protein?
Li W
Plos One, 2017
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
SMA-causing missense mutations in survival motor neuron (Smn) display a wide range of phenotypes when modeled in Drosophila.
Praveen K et al.
Plos Genetics, 2014
Advances in therapeutic development for spinal muscular atrophy.
Howell MD et al.
Future Medicinal Chemistry, 2014
The spinal muscular atrophy disease protein SMN is linked to the Rho-kinase pathway via profilin.
Nölle A et al.
Human Molecular Genetics, 2011
Spinal muscular atrophy and a model for survival of motor neuron protein function in axonal ribonucleoprotein complexes.
Rossoll W et al.
Results and Problems in Cell Differentiation, 2009
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