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
A self-reported Brazilian registry of 5q-spinal muscular atrophy: data on natural history, genetic characteristics, and multidisciplinary care.
Mendonça RH et al.
Arquivos De Neuro-psiquiatria, 2024
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
Incorporating Spinal Muscular Atrophy Analysis by Next-Generation Sequencing into a Comprehensive Multigene Panel for Neuromuscular Disorders.
Tan CA et al.
Genetic Testing and Molecular Biomarkers, 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
Mutation Spectrum of the Survival of Motor Neuron 1 and Functional Analysis of Variants in Chinese Spinal Muscular Atrophy.
Qu YJ et al.
The Journal of Molecular Diagnostics : Jmd, 2016
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