Associated Papers
Phenotypical spectrum of SACS variants: Neuromuscular perspective of a complex neurodegenerative disorder.
Çakar A et al.
Acta Neurologica Scandinavica, 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
The Complex Genetic Landscape of Hereditary Ataxias in Turkey and Implications in Clinical Practice.
Vural A et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2021
SACS variants are a relevant cause of autosomal recessive hereditary motor and sensory neuropathy.
Vill K et al.
Human Genetics, 2018
Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS): expanding the genetic, clinical and imaging spectrum.
Synofzik M et al.
Orphanet Journal of Rare Diseases, 2013
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