Associated Papers
Rare Cause 5q SMA: Molecular Genetic and Clinical Analyses of Intragenic Subtle Variants in the SMN Locus.
Mikhalchuk K et al.
Clinical Genetics, 2025
A high-fidelity long-read sequencing-based approach enables accurate and effective genetic diagnosis of spinal muscular atrophy.
Bai J et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2024
Stability and Oligomerization of Mutated SMN Protein Determine Clinical Severity of Spinal Muscular Atrophy.
Niba ETE et al.
Genes, 2022
Phenotypes of SMA patients retaining SMN1 with intragenic mutation.
Wijaya YOS et al.
Brain & Development, 2021
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
Diagnosis of Spinal Muscular Atrophy: A Simple Method for Quantifying the Relative Amount of Survival Motor Neuron Gene 1/2 Using Sanger DNA Sequencing.
Cao YY et al.
Chinese Medical Journal, 2018
Spinal muscular atrophy carriers with two SMN1 copies.
Ar Rochmah M et al.
Brain & Development, 2017
Gender Effects on the Clinical Phenotype in Japanese Patients with Spinal Muscular Atrophy.
Ar Rochmah M et al.
The Kobe Journal of Medical Sciences, 2017
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