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Volumn 247, Issue 1, 2006, Pages 35-37

DYT1 mutations amongst adult primary dystonia patients in Singapore with review of literature comparing East and West

Author keywords

DYT1; Movement disorders; Primary dystonia

Indexed keywords

ARTICLE; ASIAN; COMPARATIVE STUDY; DYSTONIA; EUROPE; GENE DELETION; GENE MUTATION; GENETIC SCREENING; HUMAN; MEDICAL LITERATURE; MUTATION RATE; PRIORITY JOURNAL; SINGAPORE;

EID: 33746274737     PISSN: 0022510X     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jns.2006.03.009     Document Type: Article
Times cited : (18)

References (22)
  • 2
    • 0036212214 scopus 로고    scopus 로고
    • The genetics of primary dystonias and related disorders
    • Nemeth A.H. The genetics of primary dystonias and related disorders. Brain 125 (2002) 695-721
    • (2002) Brain , vol.125 , pp. 695-721
    • Nemeth, A.H.1
  • 3
    • 0033572356 scopus 로고    scopus 로고
    • The TOR1A (DYT1) gene family and its role in early onset torsion dystonia
    • Ozelius L.J., Page C.E., Klein C., Hewett J.W., Mineta M., Leung J., et al. The TOR1A (DYT1) gene family and its role in early onset torsion dystonia. Genomics 62 (1999) 377-384
    • (1999) Genomics , vol.62 , pp. 377-384
    • Ozelius, L.J.1    Page, C.E.2    Klein, C.3    Hewett, J.W.4    Mineta, M.5    Leung, J.6
  • 4
    • 33746303591 scopus 로고    scopus 로고
    • Genetic testing and genetic counseling
    • Brin M.F., Comella C.L., and Jankovic J. (Eds), Lippincott Williams & Wilkins, Philadelphia
    • Doheny D.O., de Leon D., and Raymond D. Genetic testing and genetic counseling. In: Brin M.F., Comella C.L., and Jankovic J. (Eds). Dystonia: etiology, clinical features, and treatment (2004), Lippincott Williams & Wilkins, Philadelphia 23-32
    • (2004) Dystonia: etiology, clinical features, and treatment , pp. 23-32
    • Doheny, D.O.1    de Leon, D.2    Raymond, D.3
  • 6
    • 0033435220 scopus 로고    scopus 로고
    • GAG deletion in the DYT1 gene in early limb-onset idiopathic torsion dystonia in Germany
    • Kamm C., Castelon-Konkiewitz E., Naumann M., Heinen F., Brack M., Nebe A., et al. GAG deletion in the DYT1 gene in early limb-onset idiopathic torsion dystonia in Germany. Mov Disord 14 (1999) 681-683
    • (1999) Mov Disord , vol.14 , pp. 681-683
    • Kamm, C.1    Castelon-Konkiewitz, E.2    Naumann, M.3    Heinen, F.4    Brack, M.5    Nebe, A.6
  • 7
    • 0034059944 scopus 로고    scopus 로고
    • Frequency of the DYT1 mutation in primary torsion dystonia without family history
    • Brassat D., Camuzat A., Vidailhet M., Feki I., Jedynak P., Klap P., et al. Frequency of the DYT1 mutation in primary torsion dystonia without family history. Arch Neurol 57 (2000) 333-335
    • (2000) Arch Neurol , vol.57 , pp. 333-335
    • Brassat, D.1    Camuzat, A.2    Vidailhet, M.3    Feki, I.4    Jedynak, P.5    Klap, P.6
  • 8
    • 0035788608 scopus 로고    scopus 로고
    • DYT1 mutation in primary torsion dystonia in a Serbian population
    • Major T., Svetel M., Romac S., and Kostic V.S. DYT1 mutation in primary torsion dystonia in a Serbian population. J Neurol 248 (2001) 940-943
    • (2001) J Neurol , vol.248 , pp. 940-943
    • Major, T.1    Svetel, M.2    Romac, S.3    Kostic, V.S.4
  • 11
    • 0042922463 scopus 로고    scopus 로고
    • Frequency and phenotypic variability of the GAG deletion of the DYT1 gene in an unselected group of patients with dystonia
    • Grundmann K., Laubis-Herrman U., Bauer I., Dressler D., Vollmer-Haase J., Bauer P., et al. Frequency and phenotypic variability of the GAG deletion of the DYT1 gene in an unselected group of patients with dystonia. Arch Neurol 60 (2003) 1266-1270
    • (2003) Arch Neurol , vol.60 , pp. 1266-1270
    • Grundmann, K.1    Laubis-Herrman, U.2    Bauer, I.3    Dressler, D.4    Vollmer-Haase, J.5    Bauer, P.6
  • 14
    • 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 J.C., Klein C., Friedman J., Vieregge P., Jacobs H., Doheny D., et al. Novel mutation in the TOR1A (DYT1) gene in atypical, early onset dystonia and polymorphisms in dystonia and early onset parkinsonism. Neurogenetics 3 (2001) 133-143
    • (2001) Neurogenetics , vol.3 , pp. 133-143
    • Leung, J.C.1    Klein, C.2    Friedman, J.3    Vieregge, P.4    Jacobs, H.5    Doheny, D.6
  • 16
    • 33746294134 scopus 로고    scopus 로고
    • Ministry of Health [homepage on the Internet]. Singapore: Ministry of Health; c2004 [updated 2004 July; cited 2005 Apr 21]. Health Facts Singapore 2004. Available from: http://www.moh.gov.sg/corp/publications/statistics/population.do.
  • 17
    • 0024284028 scopus 로고
    • A simple salting out procedure for extracting DNA from human nucleated cells
    • Miller S.A., Dykes D.D., and Polesky H.F. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 16 (1988) 1215
    • (1988) Nucleic Acids Res , vol.16 , pp. 1215
    • Miller, S.A.1    Dykes, D.D.2    Polesky, H.F.3
  • 18
    • 33645210620 scopus 로고    scopus 로고
    • A 9-year review of dystonia from a movement disorders clinic in Singapore
    • Jamora R.D., Tan A.K., and Tan L.C. A 9-year review of dystonia from a movement disorders clinic in Singapore. Eur J Neurol 13 (2006) 77-81
    • (2006) Eur J Neurol , vol.13 , pp. 77-81
    • Jamora, R.D.1    Tan, A.K.2    Tan, L.C.3
  • 19
    • 0036237062 scopus 로고    scopus 로고
    • Inherited and de novo mutations in sporadic cases of DYT1-dystonia
    • Hjermind L.E., Werdelin L.M., and Sørensen S.A. Inherited and de novo mutations in sporadic cases of DYT1-dystonia. Eur J Hum Genet 10 (2002) 213-216
    • (2002) Eur J Hum Genet , vol.10 , pp. 213-216
    • Hjermind, L.E.1    Werdelin, L.M.2    Sørensen, S.A.3
  • 20
    • 0037356135 scopus 로고    scopus 로고
    • Focal and segmental primary dystonia in north-western Germany-a clinico-genetic study
    • Maniak K., Sieberer M., Hagenah J., Klein C., and Vieregge P. Focal and segmental primary dystonia in north-western Germany-a clinico-genetic study. Acta Neurol Scand 107 (2003) 228-232
    • (2003) Acta Neurol Scand , vol.107 , pp. 228-232
    • Maniak, K.1    Sieberer, M.2    Hagenah, J.3    Klein, C.4    Vieregge, P.5
  • 21
    • 0033677544 scopus 로고    scopus 로고
    • The DYT1 GAG deletion is infrequent in sporadic and familial writer's cramp
    • Kamm C., Naumann M., Mueller J., Mai N., Riedel L., Wissel J., et al. The DYT1 GAG deletion is infrequent in sporadic and familial writer's cramp. Mov Disord 15 (2000) 1238-1241
    • (2000) Mov Disord , vol.15 , pp. 1238-1241
    • Kamm, C.1    Naumann, M.2    Mueller, J.3    Mai, N.4    Riedel, L.5    Wissel, J.6
  • 22
    • 24144472996 scopus 로고    scopus 로고
    • Clinical and genetic evaluation in a French population presenting with primary focal dystonia
    • Dhaenens C.M., Krystkowiak P., Douay X., Charpentier P., Bele S., Destee A., et al. Clinical and genetic evaluation in a French population presenting with primary focal dystonia. Mov Disord 20 (2005) 822-825
    • (2005) Mov Disord , vol.20 , pp. 822-825
    • Dhaenens, C.M.1    Krystkowiak, P.2    Douay, X.3    Charpentier, P.4    Bele, S.5    Destee, A.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.