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Volumn 52, Issue 3, 1999, Pages 649-651

Genetic analysis of three patients with an 18p- syndrome and dystonia

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; BRAIN MALFORMATION; CASE REPORT; CHROMOSOME 18P; DISEASE ASSOCIATION; DYSTONIA; FEMALE; GENE DELETION; GENE LOCUS; GENE MAPPING; GENETIC ANALYSIS; HUMAN; MALE; MENTAL RETARDATION MALFORMATION SYNDROME; PRIORITY JOURNAL; TELOMERE;

EID: 0033051829     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/wnl.52.3.649     Document Type: Article
Times cited : (41)

References (10)
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    • (1986) Movement Disorders 2 , pp. 332-358
    • Fahn, S.1    Marsden, C.D.2    Calne, D.B.3
  • 2
    • 0032008670 scopus 로고    scopus 로고
    • Clinical and molecular genetics of primary dystonias
    • Müller U, Steinberger D, Németh AH. Clinical and molecular genetics of primary dystonias. Neurogenetics 1998;1:165-177.
    • (1998) Neurogenetics , vol.1 , pp. 165-177
    • Müller, U.1    Steinberger, D.2    Németh, A.H.3
  • 3
    • 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, Kessler KR, Benecke R, Auburger G. 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;10:1673-1677.
    • (1996) Hum Mol Genet , vol.10 , pp. 1673-1677
    • Leube, B.1    Rudnicki, D.2    Ratzlaff, T.3    Kessler, K.R.4    Benecke, R.5    Auburger, G.6
  • 4
    • 0028029401 scopus 로고
    • 18p-syndrome with bilateral pyramidal tract signs, dystonia of the lower extremities and concentric visual field defects
    • Kakinuma S, Sasabe F, Negoro K, Nogaki H, Morimatsu M. 18p-syndrome with bilateral pyramidal tract signs, dystonia of the lower extremities and concentric visual field defects. Rinsho Shinkeigaku 1994;34:474-478.
    • (1994) Rinsho Shinkeigaku , vol.34 , pp. 474-478
    • Kakinuma, S.1    Sasabe, F.2    Negoro, K.3    Nogaki, H.4    Morimatsu, M.5
  • 5
    • 0345229908 scopus 로고
    • Generalized muscular dystonia linked to an autosomal chromosome deletion (18p-)
    • Abstract
    • Ries F, Beyenburg S, Zerres K, Buchler P, Dengler R. Generalized muscular dystonia linked to an autosomal chromosome deletion (18p-). Mov Disord 1992;7(suppl 1):26. Abstract.
    • (1992) Mov Disord , vol.7 , Issue.1 SUPPL. , pp. 26
    • Ries, F.1    Beyenburg, S.2    Zerres, K.3    Buchler, P.4    Dengler, R.5
  • 6
    • 0028017280 scopus 로고
    • Movement disorders following lesions of the thalamus or subthalamic region
    • Lee MS, Marsden CD. Movement disorders following lesions of the thalamus or subthalamic region. Mov Disord 1994;9:493-507.
    • (1994) Mov Disord , vol.9 , pp. 493-507
    • Lee, M.S.1    Marsden, C.D.2
  • 7
    • 0028968098 scopus 로고
    • Analysis of a whole arm translocation between chromosomes 18 and 20 using fluorescence in situ hybridization: Detection of a break in the centromeric alpha-satellite sequences
    • Turner Z, Berg A, Mikkelsen. Analysis of a whole arm translocation between chromosomes 18 and 20 using fluorescence in situ hybridization: detection of a break in the centromeric alpha-satellite sequences. Hum Genet 1995;95:299-302.
    • (1995) Hum Genet , vol.95 , pp. 299-302
    • Turner, Z.1    Berg, A.2    Mikkelsen3
  • 8
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    • Das 18p-syndrom
    • Aksu F. Das 18p-Syndrom. Mschr Kinderheilk 1977;125:845-847.
    • (1977) Mschr Kinderheilk , vol.125 , pp. 845-847
    • Aksu, F.1
  • 9
    • 0029055332 scopus 로고
    • Dystonia in a patient with deletion of 18q
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    • (1995) Mov Disord , vol.10 , pp. 496-499
    • Gordon, M.F.1    Bressman, S.2    Brin, M.F.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.