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
Spinal muscular atrophy caused by compound heterozygous SMN1 mutations: two cases and literature review.
Chi Y et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2024
Insights into diagnostic difficulties in spinal muscular atrophy: a Case Report series.
Bregvadze K et al.
Frontiers in Genetics, 2024
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