SCA17 caused by homozygous repeat expansion in TBP due to partial isodisomy 6

This publication has 19 references indexed in Scilit:

• Phenotypical variability of expanded alleles in the TATA-binding protein gene
  Zeitschrift für Neurologie, 2003
• Different types of repeat expansion in the TATA-binding protein gene are associated with a new form of inherited ataxia
  European Journal of Human Genetics, 2001
• Distinct Roles for TBP and TBP-Like Factor in Early Embryonic Gene Transcription in Xenopus
  Science, 2000
• A neurological disease caused by an expanded CAG trinucleotide repeat in the TATA-binding protein gene: a new polyglutamine disease? [In Process Citation]
  Human Molecular Genetics, 1999
• Evidence for inter-generational instability in the CAG repeat in the MJD1 gene and for conserved haplotypes at flanking markers amongst Japanese and Caucasian subjects with Machado-Joseph disease
  Human Molecular Genetics, 1995
• The Gene for the TATA Binding Protein (TBP) That Contains a Highly Polymorphic Protein Coding CAG Repeat Maps to 6q27
  Genomics, 1994
• Highly conserved core domain and unique N terminus with presumptive regulatory motifs in a human TATA factor (TFIID)
  Nature, 1990
• Functional Domains and Upstream Activation Properties of Cloned Human TATA Binding Protein
  Science, 1990
• Cloning of a Transcriptionally Active Human TATA Binding Factor
  Science, 1990
• Homozygotes for Huntington's disease
  Nature, 1987