Associated Papers
Clinical SMN1 and SMN2 Gene-Specific Sequencing to Enhance the Clinical Sensitivity of Spinal Muscular Atrophy Diagnostic Testing.
Miller CR et al.
Human Mutation, 2023
40225149 (PubMed )
Supplement: 6436853.f1.docx
SMA Identified: Clinical and Molecular Findings From a Sponsored Testing Program for Spinal Muscular Atrophy in More Than 2,000 Individuals.
Bowen BM et al.
Frontiers in Neurology, 2021
34025568 (PubMed )
Supplement: Data_Sheet_1.pdf
Intragenic and structural variation in the SMN locus and clinical variability in spinal muscular atrophy.
Wadman RI et al.
Brain Communications, 2020
Advances in therapeutic development for spinal muscular atrophy.
Howell MD et al.
Future Medicinal Chemistry, 2014
Mutation update of spinal muscular atrophy in Spain: molecular characterization of 745 unrelated patients and identification of four novel mutations in the SMN1 gene.
Alías L et al.
Human Genetics, 2009
A novel mutation at the N-terminal of SMN Tudor domain inhibits its interaction with target proteins.
Kotani T et al.
Journal of Neurology, 2007
Spinal muscular atrophy: molecular genetics and diagnostics.
Ogino S et al.
Expert Review of Molecular Diagnostics, 2004
Genetic testing and risk assessment for spinal muscular atrophy (SMA).
Ogino S et al.
Human Genetics, 2002
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