Associated Papers
A 7-year delayed diagnosis in a case of spinal muscular atrophy.
Iwayama H et al.
Brain & Development, 2025
Clinical-functional characterization of patients with spinal muscular atrophy in Central-Western Colombia
Cardona N et al.
Biomedica : Revista Del Instituto Nacional De Salud, 2022
Spinal Muscular Atrophy: Mutations, Testing, and Clinical Relevance.
Keinath MC et al.
The Application of Clinical Genetics, 2021
Intragenic variants in the SMN1 gene determine the clinical phenotype in 5q spinal muscular atrophy.
Mendonça RH et al.
Neurology. Genetics, 2020
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