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注意:仅列出部分参考文献,下载原文获取全部文献信息。Ocular Motor Findings Aid in Differentiation of Spinocerebellar Ataxia Type 17 from Huntington's Disease
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Digenic inheritance of STUB1 variants and TBP polyglutamine expansions explains the incomplete penetrance of SCA17 and SCA48
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A series of cases with Huntington-like phenotype and intermediate repeats in HTT
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Complexity of the Genetics and Clinical Presentation of Spinocerebellar Ataxia 17
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FRONTIERS IN CELLULAR NEUROSCIENCE (2018)
A patient with 41 CAG repeats in SCA17 presenting with parkinsonism and chorea
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Psychiatric onset and late chorea in a patient with 41 CAG repeats in the TATA-binding protein gene
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Case of spinocerebellar ataxia type 17 (SCA17) associated with only 41 repeats of the TATA-binding protein (TBP) gene
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Spinocerebellar ataxia type 17:: Report of a family with reduced penetrance of an unstable GIn49 TBP allele, haplotype analysis supporting a founder effect for unstable alleles and comparative analysis of SCA17 genotypes -: art. no. 27
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Possible reduced penetrance of expansion of 44 to 47 CAG/CAA repeats in the TATA-binding protein gene in spinocerebellar ataxia type 17
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ARCHIVES OF NEUROLOGY (2004)
Intergenerational instability and marked anticipation in SCA-17
F Maltecca et al.
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