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Volumn 171, Issue 1, 2002, Pages 31-32

Primary torsion dystonia due to the TOR1A GAG deletion in an Irish family

Author keywords

[No Author keywords available]

Indexed keywords

ADENINE; GUANINE; TRINUCLEOTIDE;

EID: 0036380114     PISSN: 00211265     EISSN: None     Source Type: Journal    
DOI: 10.1007/BF03168938     Document Type: Article
Times cited : (6)

References (15)
  • 1
    • 0000613043 scopus 로고
    • Classification and investigation of dystonia
    • Eds. Marsden CD, Fahn S, London: Buttersworth
    • Fahn S, Marsden CD, Calne DB. Classification and investigation of dystonia. In: Movement Disorders 2. Eds. Marsden CD, Fahn S, London: Buttersworth 1987: 332-58.
    • (1987) Movement Disorders , vol.2 , pp. 332-358
    • Fahn, S.1    Marsden, C.D.2    Calne, D.B.3
  • 2
    • 0024457283 scopus 로고
    • Idiopathic torsion dystonia among Ashkenazi Jews: Evidence for autosomal dominant inheritance
    • Bressman SB, de Leon D, Brin ME et al. Idiopathic torsion dystonia among Ashkenazi Jews: evidence for autosomal dominant inheritance. Ann Neurol 1989; 26: 612-20.
    • (1989) Ann. Neurol , vol.26 , pp. 612-620
    • Bressman, S.B.1    de Leon, D.2    Brin, M.E.3
  • 3
    • 0025240674 scopus 로고
    • A genetic study of idiopathic torsion dystonia in the United Kingdom
    • Fletcher NA, Harding AE, Marsden CD. A genetic study of idiopathic torsion dystonia in the United Kingdom. Brain 1990; 113: 379-95.
    • (1990) Brain , vol.113 , pp. 379-395
    • Fletcher, N.A.1    Harding, A.E.2    Marsden, C.D.3
  • 4
    • 16944366666 scopus 로고    scopus 로고
    • The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein
    • Ozelius LJ, Hewett JW, Page C et al. The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein. Nat Genet 1997; 17: 40-8.
    • (1997) Nat. Genet , vol.17 , pp. 40-48
    • Ozelius, L.J.1    Hewett, J.W.2    Page, C.3
  • 5
    • 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: 152-9.
    • (1995) Nat. Genet , vol.9 , pp. 152-159
    • Risch, N.1    de Leon, D.2    Ozelius, L.3
  • 6
    • 0027988344 scopus 로고
    • Dystonia in Ashkenazi Jews: Clinical characterisation of a founder mutation
    • Bressman SB, de Leon D, Kramer PL, et al. Dystonia in Ashkenazi Jews: clinical characterisation of a founder mutation. Ann Neurol 1994; 36: 771-7.
    • (1994) Ann. Neurol , vol.36 , pp. 771-777
    • Bressman, S.B.1    de Leon, D.2    Kramer, P.L.3
  • 7
    • 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: 2335-9.
    • (1998) Brain , vol.121 , pp. 2335-2339
    • Valente, E.M.1    Warner, T.T.2    Jarman, P.R.3
  • 8
    • 0032951850 scopus 로고    scopus 로고
    • DYT1 mutation in French families with idiopathic torsion dystonia
    • Lebre A-S, Durr A, Jedynak P et al. DYT1 mutation in French families with idiopathic torsion dystonia. Brain 1999; 122: 41-5.
    • (1999) Brain , vol.122 , pp. 41-45
    • Lebre, A.-S.1    Durr, A.2    Jedynak, P.3
  • 9
    • 0028950638 scopus 로고
    • Spread of symptoms in idiopathic torsion dystonia
    • Greene P, Kang UJ, Fahn S. Spread of symptoms in idiopathic torsion dystonia. Mop Disord 1995; 10: 143-52.
    • (1995) Mop. Disord , vol.10 , pp. 143-152
    • Greene, P.1    Kang, U.J.2    Fahn, S.3
  • 10
    • 0034624938 scopus 로고    scopus 로고
    • The DYT1 phenotype and guidelines for diagnostic testing
    • Bressman SB, Sabatti C, Raymond MS, de Leon D et al. The DYT1 phenotype and guidelines for diagnostic testing. Neurology 2000; 54: 1746-52.
    • (2000) Neurology , vol.54 , pp. 1746-1752
    • Bressman, S.B.1    Sabatti, C.2    Raymond, M.S.3    de Leon, D.4
  • 11
    • 0028344689 scopus 로고
    • A study of idiopathic torsion dystonia in a non-Jewish family: Evidence for genetic heterogeneity
    • Bressman SB, Heiman GA, Nygaard TG et al. A study of idiopathic torsion dystonia in a non-Jewish family: evidence for genetic heterogeneity. Neurology 1994; 44: 283-7.
    • (1994) Neurology , vol.44 , pp. 283-287
    • Bressman, S.B.1    Heiman, G.A.2    Nygaard, T.G.3
  • 12
    • 10244255192 scopus 로고    scopus 로고
    • Exclusion of the DYT1 locus in familial torticollis
    • Bressman SB, Warner TT, Almasy L et al. Exclusion of the DYT1 locus in familial torticollis. Ann Neurol 1996; 40: 681-4.
    • (1996) Ann. Neurol , vol.40 , pp. 681-684
    • Bressman, S.B.1    Warner, T.T.2    Almasy, L.3
  • 13
    • 0029133628 scopus 로고
    • Adult onset idiopathic torsion dystonia is excluded from the DYT1 region in a Swedish family
    • Holmgren G, Ozelius L, Forsgren L et al. Adult onset idiopathic torsion dystonia is excluded from the DYT1 region in a Swedish family. J Neurol Neurosurg Psychiatry 1995; 59: 178-81.
    • (1995) J. Neurol. Neurosurg. Psychiatry , vol.59 , pp. 178-181
    • Holmgren, G.1    Ozelius, L.2    Forsgren, L.3
  • 14
    • 0031878303 scopus 로고    scopus 로고
    • Phenotypic expression of the DYT1 mutation: A family with writer's cramp of juvenile onset
    • Gasser T, Windgassen K, Bereznai B et al. Phenotypic expression of the DYT1 mutation: A family with writer's cramp of juvenile onset. Ann Neurol 1998; 44: 126-8.
    • (1998) Ann. Neurol , vol.44 , pp. 126-128
    • Gasser, T.1    Windgassen, K.2    Bereznai, B.3
  • 15
    • 0032895322 scopus 로고    scopus 로고
    • Phenotypic variability of the DYT1 mutation in German dystonia patients
    • Leube B, Kessler KR, Ferbert A et al. Phenotypic variability of the DYT1 mutation in German dystonia patients. Acta Neurol Scand 1999; 99: 248-51.
    • (1999) Acta Neurol. Scand , vol.99 , pp. 248-251
    • Leube, B.1    Kessler, K.R.2    Ferbert, A.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.