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Volumn 57, Issue 3, 2000, Pages 333-335

Frequency of the DYT1 mutation in primary torsion dystonia without family history

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; DIAGNOSTIC ACCURACY; GENE DELETION; GENE MUTATION; GENETIC COUNSELING; HUMAN; MAJOR CLINICAL STUDY; PENETRANCE; PRIORITY JOURNAL; TORSION DYSTONIA;

EID: 0034059944     PISSN: 00039942     EISSN: None     Source Type: Journal    
DOI: 10.1001/archneur.57.3.333     Document Type: Article
Times cited : (45)

References (10)
  • 1
    • 0031603819 scopus 로고    scopus 로고
    • Classification of dystonia
    • Fann S, Marsden CD, Delong M, eds. Philadelphia, Pa: Lippincott-Raven Publishers
    • Fahn S, Bressman SB, Marsden CD. Classification of dystonia. In: Fann S, Marsden CD, Delong M, eds. Dystonia 3. Advances in Neurology. Philadelphia, Pa: Lippincott-Raven Publishers; 1998:78:1-10.
    • (1998) Dystonia 3. Advances in Neurology , vol.78 , pp. 1-10
    • Fahn, S.1    Bressman, S.B.2    Marsden, C.D.3
  • 3
    • 16944366666 scopus 로고    scopus 로고
    • The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein
    • Ozelius JL, 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, J.L.1    Hewett, J.W.2    Page, C.E.3
  • 4
    • 0031797115 scopus 로고    scopus 로고
    • The role of DYT1 in primary torsion dystonia in Europe
    • Valente EM, Warner TT, Jarman PR, et al. The role of DYT1 in primary torsion dystonia in Europe. Brain. 1998;121:2335-2339.
    • (1998) Brain , vol.121 , pp. 2335-2339
    • Valente, E.M.1    Warner, T.T.2    Jarman, P.R.3
  • 5
    • 0032951850 scopus 로고    scopus 로고
    • DYT1 mutation in French families with idiopathic torsion dystonia
    • Lebre AS, Durr A, Jedynak P, et al. DYT1 mutation in French families with idiopathic torsion dystonia. Brain. 1999;122:41-45.
    • (1999) Brain , vol.122 , pp. 41-45
    • Lebre, A.S.1    Durr, A.2    Jedynak, P.3
  • 6
    • 0031878303 scopus 로고    scopus 로고
    • Phenotypic expression of DYT1 mutation: A family with writer's cramp of juvenile onset
    • Gasser T, Windgassen K, Bereznai B, Kabus C, Ludoph AC. Phenotypic expression of DYT1 mutation: a family with writer's cramp of juvenile onset. Ann Neurol. 1998;44:126-128.
    • (1998) Ann Neurol. , vol.44 , pp. 126-128
    • Gasser, T.1    Windgassen, K.2    Bereznai, B.3    Kabus, C.4    Ludoph, A.C.5
  • 7
    • 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
  • 9
    • 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
  • 10
    • 7144256520 scopus 로고    scopus 로고
    • De novo mutations (GAG deletion) in DYT1 gene in two non-Jewish patients with early-onset dystonia
    • Klein C, Brin MF, de Leon D, et al. De novo mutations (GAG deletion) in DYT1 gene in two non-Jewish patients with early-onset dystonia. Hum Mol Genet. 1998;7:1133-1136.
    • (1998) Hum Mol Genet , vol.7 , pp. 1133-1136
    • Klein, C.1    Brin, M.F.2    De Leon, D.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.