제8형 가족성척수소뇌성실조증 1예

참고문헌 (10)

1. "An untranslated CTG expansion causes a novel form of spinocerebellar ataxia(SCA8)", 21, pp.379~384 (1999)
2. "Clinical features and genetic analysis of a new form of spinocerebellar ataxia", 56, pp.234~238 (2001)
3. "Molecular and clinical analyses of spinocerebellar ataxia type 8 in Japan", 54, pp.950~955 (2000)
4. "n expansions at the SCA8 locus rare polymorphisms" (2000)
5. "Large,expanded repeats in SCA8 are not confined to patients with cerebellar ataxia", 24, pp.214~215 (2000)
6. "SCA8 CTG repeat:en masse contractions in sperm and intergenerational sequence changes may play a role in reduced penetrance", 9, pp.2125~2130 (2000)
7. "High germinal instability of the(CTG)n at the SCA8 locus of both expanded and normal alleles", 66, pp.830~840 (2000)
8. "Genetic and clinical analysis of spinocerebellar ataxia type 8 repeat expansion in Italy", 58, pp.1856~1859 (2001)
9. "Frequency analysis and clinical characterization of spinocerebellar ataxia types 1 and 7 in Korean patients", pp.858~863 (2003)
10. "Frequency of spinocerebellar ataxia types 1 7 and dentatorubral pallidoluysian atrophy mutations in Korean patients with spinocerebellar ataxia", pp.207~210 (1999)