New mutation in the non‐gigantic exon of SACS in Japanese siblings

This publication has 4 references indexed in Scilit:

• Sacsin-related ataxia (ARSACS): Expanding the genotype upstream from the gigantic exon
  Neurology, 2006
• ARSACS goes global
  Neurology, 2004
• ARSACS, a spastic ataxia common in northeastern Québec, is caused by mutations in a new gene encoding an 11.5-kb ORF
  Nature Genetics, 2000
• Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay
  Canadian Journal of Neurological Sciences, 1978