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
Twenty-Five Years of Spinal Muscular Atrophy Research: From Phenotype to Genotype to Therapy, and What Comes Next.
Wirth B et al.
Annual Review of Genomics and Human Genetics, 2020
Intragenic and structural variation in the SMN locus and clinical variability in spinal muscular atrophy.
Wadman RI et al.
Brain Communications, 2020
Perspectives in genetic counseling for spinal muscular atrophy in the new therapeutic era: early pre-symptomatic intervention and test in minors.
Serra-Juhe C et al.
European Journal of Human Genetics : Ejhg, 2019
Spinal Muscular Atrophy: Overview of Molecular Diagnostic Approaches.
Prior TW et al.
Current Protocols in Human Genetics, 2016
Analysis of the C9orf72 gene in spinal muscular atrophy patients.
Alías L et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2014
Molecular analysis of SMA patients without homozygous SMN1 deletions using a new strategy for identification of SMN1 subtle mutations.
Clermont O et al.
Human Mutation, 2004
Spinal muscular atrophy: molecular genetics and diagnostics.
Ogino S et al.
Expert Review of Molecular Diagnostics, 2004
A genetic and phenotypic analysis in Spanish spinal muscular atrophy patients with c.399_402del AGAG, the most frequently found subtle mutation in the SMN1 gene.
Cuscó I et al.
Human Mutation, 2003
Select a paper to view details