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
The genetic and clinical spectrum in a cohort of 39 families with complex inherited peripheral neuropathies.
Wang M et al.
Journal of Neurology, 2023
Genetics of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) and Role of Sacsin in Neurodegeneration.
Bagaria J et al.
International Journal of Molecular Sciences, 2022
A Novel SACS Variant Identified in a Chinese Patient: Case Report and Review of the Literature.
Chen Y et al.
Frontiers in Neurology, 2022
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
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