Novel compound heterozygous mutation in SACS gene leads to a milder autosomal recessive spastic ataxia of Charlevoix‐Saguenay, ARSACS, in a Finnish family

Gelijkaardige items

• SACS mutation-positive autosomal recessive spastic ataxia of charlevoix saguenay (ARSACS) from Kerala
  door: S Sheetal, et al.
  Gepubliceerd in: (2020-01-01)
• SACS Mutation-Positive Autosomal Recessive Spastic Ataxia of Charlevoix Saguenay (ARSACS) from Kerala
  door: Sheetal, S, et al.
  Gepubliceerd in: (2020)
• Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS): Case Report of a Novel Nonsense Mutation in the SACS Gene
  door: Agarwal, Ayush, et al.
  Gepubliceerd in: (2020)
• Mitochondrial dysfunction and Purkinje cell loss in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS)
  door: Girard, Martine, et al.
  Gepubliceerd in: (2012)
• Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS): expanding the genetic, clinical and imaging spectrum
  door: Synofzik, Matthis, et al.
  Gepubliceerd in: (2013)