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Novel THAP1 sequence variants in primary dystonia

  • J. Xiao
  • , Y. Zhao
  • , R. W. Bastian
  • , J. S. Perlmutter
  • , B. A. Racette
  • , S. D. Tabbal
  • , M. Karimi
  • , R. C. Paniello
  • , Z. K. Wszolek
  • , R. J. Uitti
  • , J. A. Van Gerpen
  • , D. K. Simon
  • , D. Tarsy
  • , P. Hedera
  • , D. D. Truong
  • , K. P. Frei
  • , S. Dev Batish
  • , A. Blitzer
  • , R. F. Pfeiffer
  • , S. Gong
  • M. S. Ledoux

Research output: Contribution to journalArticlepeer-review

Original languageEnglish
Pages (from-to)229-238
Number of pages10
JournalNeurology
Volume74
Issue number3
DOIs
StatePublished - Jan 2010
Externally publishedYes

ASJC Scopus Subject Areas

  • Clinical Neurology

Keywords

  • Amino Acid Sequence
  • Mutation, Missense/genetics
  • Humans
  • Middle Aged
  • Child, Preschool
  • Molecular Sequence Data
  • Infant
  • Male
  • Dystonic Disorders/genetics
  • Genetic Variation/genetics
  • Young Adult
  • DNA-Binding Proteins/genetics
  • Pedigree
  • Adolescent
  • Aged, 80 and over
  • Adult
  • Apoptosis Regulatory Proteins/genetics
  • Female
  • Aged
  • Nuclear Proteins/genetics
  • Child
  • Cohort Studies

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