메뉴 건너뛰기




Volumn 70, Issue 23, 2008, Pages 2261-2262

Susceptibility to DYT1 dystonia in european patients is modified by the D216h polymorphism

Author keywords

[No Author keywords available]

Indexed keywords

ASPARTIC ACID; HISTIDINE; PROTEIN; TORSIN A; UNCLASSIFIED DRUG; CHAPERONE; TOR1A PROTEIN, HUMAN;

EID: 44949188596     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/01.wnl.0000313838.05734.8a     Document Type: Article
Times cited : (54)

References (7)
  • 1
    • 16944366666 scopus 로고    scopus 로고
    • The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein
    • Ozelius LJ, Hewett JW, Page CE, et al. The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein. Nat Genet 1997;17:40-48.
    • (1997) Nat Genet , vol.17 , pp. 40-48
    • Ozelius, L.J.1    Hewett, J.W.2    Page, C.E.3
  • 2
    • 0034624938 scopus 로고    scopus 로고
    • The DYT1 phenotype and guidelines for diagnostic testing
    • Bressman SB, Sabatti C, Raymond D, et al. The DYT1 phenotype and guidelines for diagnostic testing. Neurology 2000;54:1746-1752.
    • (2000) Neurology , vol.54 , pp. 1746-1752
    • Bressman, S.B.1    Sabatti, C.2    Raymond, D.3
  • 3
    • 0024457283 scopus 로고
    • Idiopathic dystonia among Ashkenazi Jews: Evidence for autosomal dominant inheritance
    • Bressman SB, de Leon D, Brin MF, et al. Idiopathic dystonia among Ashkenazi Jews: evidence for autosomal dominant inheritance. Ann Neurol 1989;26:612-620.
    • (1989) Ann Neurol , vol.26 , pp. 612-620
    • Bressman, S.B.1    de Leon, D.2    Brin, M.F.3
  • 4
    • 0027930349 scopus 로고
    • The DYT1 gene on 9q34 is responsible for most cases of early limb-onset idiopathic torsion dystonia in non-Jews
    • Kramer PL, Heiman GA, Gasser T, et al. The DYT1 gene on 9q34 is responsible for most cases of early limb-onset idiopathic torsion dystonia in non-Jews. Am J Hum Genet 1994;55:468-475.
    • (1994) Am J Hum Genet , vol.55 , pp. 468-475
    • Kramer, P.L.1    Heiman, G.A.2    Gasser, T.3
  • 5
    • 33645814863 scopus 로고    scopus 로고
    • Effects of genetic variations in the dystonia protein torsinA: Identification of polymorphism at residue 216 as protein modifier
    • Kock N, Naismith TV, Boston HE, et al. Effects of genetic variations in the dystonia protein torsinA: identification of polymorphism at residue 216 as protein modifier. Hum Mol Genet 2006;15:1355-1364.
    • (2006) Hum Mol Genet , vol.15 , pp. 1355-1364
    • Kock, N.1    Naismith, T.V.2    Boston, H.E.3
  • 6
    • 34250872219 scopus 로고    scopus 로고
    • Intragenic Cis and Trans modification of genetic susceptibility in DYT1 torsion dystonia
    • Risch NJ, Bressman SB, Senthil G, Ozelius LJ. Intragenic Cis and Trans modification of genetic susceptibility in DYT1 torsion dystonia. Am J Hum Genet 2007;80:1188-1193.
    • (2007) Am J Hum Genet , vol.80 , pp. 1188-1193
    • Risch, N.J.1    Bressman, S.B.2    Senthil, G.3    Ozelius, L.J.4
  • 7
    • 18044403431 scopus 로고    scopus 로고
    • Novel mutation in the TOR1A (DYT1) gene in atypical early onset dystonia and polymorphisms in dystonia and early onset parkinsonism
    • Leung JC, Klein C, Friedman J, et al. Novel mutation in the TOR1A (DYT1) gene in atypical early onset dystonia and polymorphisms in dystonia and early onset parkinsonism. Neurogenetics 2001;3:133-143.
    • (2001) Neurogenetics , vol.3 , pp. 133-143
    • Leung, J.C.1    Klein, C.2    Friedman, J.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.