title: A novel mutation in the SACS gene associated with a complicated form of spastic ataxia.
authors.forename: Marcella
authors.initials: M
authors.lastname: Masciullo
authors.forename: Anna
authors.initials: A
authors.lastname: Modoni
authors.forename: Fabiana
authors.initials: F
authors.lastname: Fattori
authors.forename: Massimo
authors.initials: M
authors.lastname: Santoro
authors.forename: Paola S
authors.initials: PS
authors.lastname: Denora
authors.forename: Pietro
authors.initials: P
authors.lastname: Tonali
authors.forename: Filippo M
authors.initials: FM
authors.lastname: Santorelli
authors.forename: Gabriella
authors.initials: G
authors.lastname: Silvestri
mesh_terms: D000595:Amino Acid Sequence; D001259:Ataxia / Q000175:diagnosis / Q000235:genetics*; D001483:Base Sequence; D001921:Brain / Q000378:metabolism / Q000473:pathology; D018389:Codon, Nonsense; D004252:DNA Mutational Analysis; D005260:Female; D006360:Heat-Shock Proteins / Q000235:genetics*; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D009128:Muscle Spasticity / Q000175:diagnosis / Q000235:genetics*; D010375:Pedigree; D013116:Spinal Cord / Q000378:metabolism / Q000473:pathology
chemical_list: D018389:Codon, Nonsense; D006360:Heat-Shock Proteins; C404403:SACS protein, human