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A Novel Heterozygous ANO3 Mutation with Basal Ganglia Dysfunction in a Patient with Adult-Onset Isolated Segmental Dystonia

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참고문헌 (5)

  1. Charlesworth G, "Mutations in ANO3 cause dominant craniocervical dystonia: ion channel implicated in pathogenesis", Am J Hum Genet, 91, pp.1041~1050 (2012)
  2. Lohmann K, "Update on the genetics of dystonia", Curr Neurol Neurosci Rep, 17, pp.26~ (2017)
  3. Stamelou M, "The phenotypic spectrum of DYT24 due to ANO3 mutations", Mov Disord, 29, pp.928~934 (2014)
  4. Carbon M, "Functional imaging in hereditary dystonia", Eur J Neurol, 17(Suppl 1), pp.58~64 (2010)
  5. Domingo A, "Novel dystonia genes: clues on disease mechanisms and the complexities of high-throughput sequencing", Mov Disord, 31, pp.471~477 (2016)

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