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Volumn 26, Issue 11, 2011, Pages 2136-2137

No evidence for THAP1/DYT6 variants as disease modifiers in DYT1 dystonia

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; AGED; DNA MODIFICATION; DYSTONIA; DYT1 GENE; DYT6 GENE; EXON; GENE; GENE DELETION; GENE SEQUENCE; GENETIC VARIABILITY; HUMAN; INTRON; LETTER; MAJOR CLINICAL STUDY; PHENOTYPIC VARIATION; PRIORITY JOURNAL; THAP1 GENE;

EID: 80052969288     PISSN: 08853185     EISSN: 15318257     Source Type: Journal    
DOI: 10.1002/mds.23777     Document Type: Letter
Times cited : (9)

References (7)
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    • Schmidt A, Klein C. The role of genes in causing dystonia. Eur J Neurol 2010; 17(Suppl 1): 65-70.
    • (2010) Eur J Neurol , vol.17 , Issue.SUPPL. 1 , pp. 65-70
    • Schmidt, A.1    Klein, C.2
  • 2
    • 78149479301 scopus 로고    scopus 로고
    • The dystonia gene DYT1 is repressed by the transcription factor THAP1 (DYT6)
    • Kaiser FJ, Osmanoric A, Rakovic A, et al. The dystonia gene DYT1 is repressed by the transcription factor THAP1 (DYT6). Ann Neurol 2010; 68: 554-559.
    • (2010) Ann Neurol , vol.68 , pp. 554-559
    • Kaiser, F.J.1    Osmanoric, A.2    Rakovic, A.3
  • 3
    • 78149483955 scopus 로고    scopus 로고
    • Direct interaction between causative genes of DYT1 and DYT6 primary dystonia
    • Gavarini S, Cayrol C, Fuchs T, et al. Direct interaction between causative genes of DYT1 and DYT6 primary dystonia. Ann Neurol 2010; 68: 418-420.
    • (2010) Ann Neurol , vol.68 , pp. 418-420
    • Gavarini, S.1    Cayrol, C.2    Fuchs, T.3
  • 4
    • 44949188596 scopus 로고    scopus 로고
    • Susceptibility to DYT1 dystonia in European patients is modified by the D216H polymorphism
    • Kamm C, Fischer H, Garavaglia B, et al. Susceptibility to DYT1 dystonia in European patients is modified by the D216H polymorphism. Neurology 2008; 70: 2261-2262.
    • (2008) Neurology , vol.70 , pp. 2261-2262
    • Kamm, C.1    Fischer, H.2    Garavaglia, B.3
  • 5
    • 64749086402 scopus 로고    scopus 로고
    • Mutations in THAP1 (DYT6) and generalised dystonia with prominent spasmodic dysphonia: a genetic screening study
    • Djarmati A, Schneider SA, Lohmann K, et al. Mutations in THAP1 (DYT6) and generalised dystonia with prominent spasmodic dysphonia: a genetic screening study. Lancet Neurol 2009; 8: 447-452.
    • (2009) Lancet Neurol , vol.8 , pp. 447-452
    • Djarmati, A.1    Schneider, S.A.2    Lohmann, K.3
  • 6
    • 74949103804 scopus 로고    scopus 로고
    • Novel THAP1 sequence variants in primary dystonia
    • Xiao J, Zhao Y, Bastian RW, et al. Novel THAP1 sequence variants in primary dystonia. Neurology 2010; 74: 229-238.
    • (2010) Neurology , vol.74 , pp. 229-238
    • Xiao, J.1    Zhao, Y.2    Bastian, R.W.3
  • 7
    • 77958521426 scopus 로고    scopus 로고
    • DYT6 dystonia: mutation screening, phenotype, and response to deep brain stimulation
    • Groen JL, Ritz K, Contarino MF, et al. DYT6 dystonia: mutation screening, phenotype, and response to deep brain stimulation. Mov Disord 2010; 25: 2420-2427.
    • (2010) Mov Disord , vol.25 , pp. 2420-2427
    • Groen, J.L.1    Ritz, K.2    Contarino, M.F.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.