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Volumn 44, Issue 1, 1998, Pages 126-128

Phenotypic expression of the DYT1 mutation: A family with writer's cramp of juvenile onset

Author keywords

[No Author keywords available]

Indexed keywords

BINDING PROTEIN; GAG PROTEIN; PROTEIN TORSIN A; UNCLASSIFIED DRUG;

EID: 0031878303     PISSN: 03645134     EISSN: None     Source Type: Journal    
DOI: 10.1002/ana.410440119     Document Type: Article
Times cited : (88)

References (10)
  • 1
    • 0000613043 scopus 로고
    • Classification and investigation of dystonia
    • Marsden CD, Fahn S, eds. London: Butterworths
    • Fahn S, Marsden CD, Calne DB. Classification and investigation of dystonia. In Marsden CD, Fahn S, eds. Movement Disorders 2. London: Butterworths, 1987:332-358
    • (1987) Movement Disorders 2 , pp. 332-358
    • Fahn, S.1    Marsden, C.D.2    Calne, D.B.3
  • 3
    • 0028819262 scopus 로고
    • Genetic analysis of idiopathic torsion dystonia in Ashkenazi Jews and their recent descent from a small founder population
    • Risch N, de Leon D, Ozelius L, et al. Genetic analysis of idiopathic torsion dystonia in Ashkenazi Jews and their recent descent from a small founder population. Nat Genet 1995;9:152-159
    • (1995) Nat Genet , vol.9 , pp. 152-159
    • Risch, N.1    De Leon, D.2    Ozelius, L.3
  • 4
    • 0026329555 scopus 로고
    • Strong allelic association between the torsion dystonia gene (DYT1) and loci on chromosome 9q34 in Ashkenazi Jews: Torsion dystonia genes in two populations confined to a small region on chromosome 9q32-34
    • Ozelius LJ, Kramer PL, de Leon D, et al. Strong allelic association between the torsion dystonia gene (DYT1) and loci on chromosome 9q34 in Ashkenazi Jews: torsion dystonia genes in two populations confined to a small region on chromosome 9q32-34. Am J Hum Genet 1991;49:366-371
    • (1991) Am J Hum Genet , vol.49 , pp. 366-371
    • Ozelius, L.J.1    Kramer, P.L.2    De Leon, D.3
  • 5
    • 0030868892 scopus 로고    scopus 로고
    • Idiopathic torsion dystonia linked to chromosome 8 in two Mennonite families
    • Almasy L, Bressman SB, Raymond D, et al. Idiopathic torsion dystonia linked to chromosome 8 in two Mennonite families. Ann Neurol 1997;42:670-673
    • (1997) Ann Neurol , vol.42 , pp. 670-673
    • Almasy, L.1    Bressman, S.B.2    Raymond, D.3
  • 6
    • 0029798561 scopus 로고    scopus 로고
    • Idiopathic torsion dystonia: Assignment of a gene to chromosome 18p in a German family with adult onset, autosomal dominant inheritance and purely focal distribution
    • Leube B, Rudnicki D, Ratzlaff T, et al. Idiopathic torsion dystonia: assignment of a gene to chromosome 18p in a German family with adult onset, autosomal dominant inheritance and purely focal distribution. Hum Mol Genet 1996;5:1673-1677
    • (1996) Hum Mol Genet , vol.5 , pp. 1673-1677
    • Leube, B.1    Rudnicki, D.2    Ratzlaff, T.3
  • 7
    • 16944366666 scopus 로고    scopus 로고
    • The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein
    • Ozelius L, 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.1    Hewett, J.W.2    Page, C.E.3
  • 9
    • 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
  • 10
    • 0027988344 scopus 로고
    • Dystonia in Ashkenazi Jews: Clinical characterization of a founder mutation
    • Bressman SB, de Leon D, Kramer PL, et al. Dystonia in Ashkenazi Jews: clinical characterization of a founder mutation. Ann Neurol 1994;36:771-777
    • (1994) Ann Neurol , vol.36 , pp. 771-777
    • Bressman, S.B.1    De Leon, D.2    Kramer, P.L.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.