Associated Papers
Adult Survival in SMA Type 1: A 23-Year Journey With Home Ventilation and Multidisciplinary Support.
Camelo-Filho AE et al.
Clinical Case Reports, 2026
Quebec Spinal Muscular Atrophy Newborn Screening Program: The First Year Experience.
Groulx-Boivin E et al.
International Journal of Neonatal Screening, 2025
Genetic counseling and carrier screening in candidates for gamete donation at a Portuguese center.
Soares CA et al.
Jbra Assisted Reproduction, 2023
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
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
32954327 (PubMed )
Supplement: fcaa075_supplementary_data.pdf
Multiplex Droplet Digital PCR Method Applicable to Newborn Screening, Carrier Status, and Assessment of Spinal Muscular Atrophy.
Vidal-Folch N et al.
Clinical Chemistry, 2018
New approaches in molecular diagnosis and population carrier screening for spinal muscular atrophy.
Gonçalves-Rocha M et al.
Genetic Testing and Molecular Biomarkers, 2011
Multi-exon genotyping of SMN gene in spinal muscular atrophy by universal fluorescent PCR and capillary electrophoresis.
Wang CC et al.
Electrophoresis, 2010
Importance of standard nomenclature for SMN1 small intragenic ("subtle") mutations.
Ogino S et al.
Human Mutation, 2004
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
Select a paper to view details