title: Autosomal recessive spastic ataxia of Charlevoix-Saguenay in the time of next-generation sequencing.
authors.forename: Gabriella
authors.initials: G
authors.lastname: Silvestri
authors.forename: Marcella
authors.initials: M
authors.lastname: Masciullo
authors.forename: Filippo M
authors.initials: FM
authors.lastname: Santorelli
mesh_terms: D059472:Exome / Q000235:genetics*; D005260:Female; D006360:Heat-Shock Proteins / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics*; D009422:Nervous System Diseases / Q000235:genetics*
chemical_list: D006360:Heat-Shock Proteins