title: Sacsin-related ataxia caused by the novel nonsense mutation Arg4325X.
authors.forename: Yoichi
authors.initials: Y
authors.lastname: Yamamoto
authors.forename: Masayuki
authors.initials: M
authors.lastname: Nakamori
authors.forename: Kuni
authors.initials: K
authors.lastname: Konaka
authors.forename: Seiichi
authors.initials: S
authors.lastname: Nagano
authors.forename: Haruo
authors.initials: H
authors.lastname: Shimazaki
authors.forename: Yoshihisa
authors.initials: Y
authors.lastname: Takiyama
authors.forename: Saburo
authors.initials: S
authors.lastname: Sakoda
mesh_terms: D000328:Adult; D001259:Ataxia / Q000235:genetics* / Q000473:pathology; D001921:Brain / Q000473:pathology; D018389:Codon, Nonsense / Q000235:genetics*; D004247:DNA / Q000235:genetics; D004252:DNA Mutational Analysis; D005260:Female; D006360:Heat-Shock Proteins / Q000235:genetics*; D006801:Humans; D008279:Magnetic Resonance Imaging; D010641:Phenotype
chemical_list: D018389:Codon, Nonsense; D006360:Heat-Shock Proteins; C404403:SACS protein, human; D004247:DNA