Associated Papers
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
Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay without Spasticity.
Aida I et al.
Internal Medicine (tokyo, Japan), 2021
Homozygosity mapping and next generation sequencing for the genetic diagnosis of hereditary ataxia and spastic paraplegia in consanguineous families.
Jiao B et al.
Parkinsonism & Related Disorders, 2020
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