메뉴 건너뛰기




Volumn 26, Issue 5, 2011, Pages 924-925

DYT 6-A novel THAP1 mutation with excellent effect on pallidal DBS

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA;

EID: 79955136529     PISSN: 08853185     EISSN: 15318257     Source Type: Journal    
DOI: 10.1002/mds.23599     Document Type: Letter
Times cited : (22)

References (7)
  • 1
    • 61349178832 scopus 로고    scopus 로고
    • Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia
    • Fuchs T, Gavarini S, Saunders-Pullman R, et al. Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia. Nat Genet 2009; 41: 286-288.
    • (2009) Nat Genet , vol.41 , pp. 286-288
    • Fuchs, T.1    Gavarini, S.2    Saunders-Pullman, R.3
  • 2
    • 77958578230 scopus 로고    scopus 로고
    • Clinical neuroimaging and electrophysiological assessment of three DYT6 dystonia families
    • Zittel S, Moll CK, Br̈uggemann N, et al. Clinical neuroimaging and electrophysiological assessment of three DYT6 dystonia families. Mov Disord 2010; 25: 2405-2412.
    • (2010) Mov Disord , vol.25 , pp. 2405-2412
    • Zittel, S.1    Moll, C.K.2    Br̈uggemann, N.3
  • 3
    • 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
  • 4
    • 72849125621 scopus 로고    scopus 로고
    • Deep brain stimulation in acute management of status dystonicus
    • Jech R, Bares M, Urgosik D, et al. Deep brain stimulation in acute management of status dystonicus. Mov Disord 2009; 24: 2291-2292.
    • (2009) Mov Disord , vol.24 , pp. 2291-2292
    • Jech, R.1    Bares, M.2    Urgosik, D.3
  • 5
    • 77955074894 scopus 로고    scopus 로고
    • Adult-onset leg dystonia due to a missense mutation in THAP1
    • Van Gerpen JA, Ledoux MS, Wszolek ZK. Adult-onset leg dystonia due to a missense mutation in THAP1. Mov Disord 2010; 25: 1306-1307.
    • (2010) Mov Disord , vol.25 , pp. 1306-1307
    • Van Gerpen, J.A.1    Ledoux, M.S.2    Wszolek, Z.K.3
  • 6
    • 77949372189 scopus 로고    scopus 로고
    • THAP1 mutations (DYT6) are an additional cause of early-onset dystonia
    • Houlden H, Schneider SA, Paudel R, et al. THAP1 mutations (DYT6) are an additional cause of early-onset dystonia. Neurology 2010; 74: 846-850.
    • (2010) Neurology , vol.74 , pp. 846-850
    • Houlden, H.1    Schneider, S.A.2    Paudel, R.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.