Compound Heterozygous Mutations of SACS in a Korean Cohort Study of Charcot-Marie-Tooth Disease Concurrent Cerebellar Ataxia and Spasticity
Article in International Journal of Molecular Sciences (June 2024)
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A novel homozygous mutation in the SACS gene causing autosomal recessive spastic ataxia of Charlevoix-Saguenay: study of a family
Article in Chinese Journal of Neurology (June 2024)