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Late-Onset Dystonia With THAP1 Mutation (DYT6) in South Korea: A Case Report and Literature Review

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참고문헌 (10)

  1. Almasy L, "Idiopathic torsion dystonia linked to chromosome 8 in two Mennonite families", Ann Neurol, 42, pp.670~673 (1997)
  2. Fuchs T, "Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia", Nat Genet, 41, pp.286~288 (2009)
  3. Dobričić VS, "Mutation screening of the DYT6", THAP1 gene in Serbian patients with primary dystonia, 2013, pp.260, 1037~1042
  4. Groen JL, "DYT6 dystonia : mutation screening, phenotype, and response to deep brain stimulation", Mov Disord, 25, pp.2420~2427 (2010)
  5. Danielsson A, "Pallidal deep brain stimulation in DYT6 dystonia : clinical outcome and predictive factors for motor improvement", J Clin Med, 8, pp.2163~ (2019)
  6. Xiao J, "Novel THAP1 sequence variants in primary dystonia", Neurology, 74, pp.229~238 (2010)
  7. Holla VV, "Late adulthood onset DYT-THAP1 secondary to a novel splice site mutation-A report from India", Parkinsonism Relat Disord, 78, pp.36~37 (2020)
  8. Millar Vernetti P, "Genetic diagnosis in movement disorders. Use of whole-exome sequencing in clinical practice", Tremor Other Hyperkinet Mov(N Y), 12, pp.12~ (2022)
  9. Houlden H, "THAP1 mutations(DYT6)are an additional cause of early-onset dystonia", Neurology, 74, pp.846~850 (2010)
  10. Söhn AS, "Prevalence of THAP1 sequence variants in German patients with primary dystonia", Mov Disord, 25, pp.1982~1986 (2010)

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