Associated Papers
Genetic analysis of three patients from two unrelated Chinese families with autosomal recessive spastic ataxia of Charlevoix-Saguenay.
Liu H et al.
Bmc Medical Genomics, 2025
A novel hemizygous SACS mutation identified by whole exome sequencing and SNP array analysis in a Chinese ARSACS patient.
Liu L et al.
Journal of the Neurological Sciences, 2016
Abnormal retinal thickening is a common feature among patients with ARSACS-related phenotypes.
Yu-Wai-Man P et al.
The British Journal of Ophthalmology, 2014
Late-onset sacsinopathy diagnosed by exome sequencing and comparative genomic hybridization.
Pyle A et al.
Journal of Neurogenetics, 2013
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