메뉴 건너뛰기




Volumn 62, Issue 4, 2004, Pages 637-639

Phenotypic heterogeneity of dopa-responsive dystonia in monozygotic twins

Author keywords

[No Author keywords available]

Indexed keywords

BENSERAZIDE; DOPAMINE; GUANOSINE TRIPHOSPHATE CYCLOHYDROLASE I;

EID: 1342288319     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/01.WNL.0000110192.27794.E8     Document Type: Article
Times cited : (11)

References (10)
  • 2
    • 0034788778 scopus 로고    scopus 로고
    • Tetrahydrobiopterin deficiencies without hyperphenylalaninemia: Diagnosis and genetics of dopa-responsive dystonia and sepiapterin reductase deficiency
    • Blau N, Bonafé L, Thöny B. Tetrahydrobiopterin deficiencies without hyperphenylalaninemia: diagnosis and genetics of dopa-responsive dystonia and sepiapterin reductase deficiency. Mol Genet Metab 2001;74: 172-185.
    • (2001) Mol Genet Metab , vol.74 , pp. 172-185
    • Blau, N.1    Bonafé, L.2    Thöny, B.3
  • 3
    • 0032731974 scopus 로고    scopus 로고
    • Dopa-responsive dystonia: Recent advances and remaining issues to be addressed
    • Furukawa Y, Kish SJ. Dopa-responsive dystonia: recent advances and remaining issues to be addressed. Mov Disord 1999;14:709-715.
    • (1999) Mov Disord , vol.14 , pp. 709-715
    • Furukawa, Y.1    Kish, S.J.2
  • 4
    • 0003545930 scopus 로고
    • Toronto (Ontario, Canada). Baltimore, MD: The Hospital for Sick Children, Johns Hopkins University
    • GDB Human Genome Database [online]. Toronto (Ontario, Canada). Baltimore, MD: The Hospital for Sick Children, Johns Hopkins University, 1990-2002. Available at: http://www.gdb.org/
    • (1990) GDB Human Genome Database [Online]
  • 5
    • 0031609751 scopus 로고    scopus 로고
    • Defects of biopterin metabolism and biogenic amine biosynthesis: Clinical, diagnostic, and therapeutic aspects
    • Hyland K, Arnold LA, Trugmann JM. Defects of biopterin metabolism and biogenic amine biosynthesis: clinical, diagnostic, and therapeutic aspects. Adv Neurol 1998;78:303-308.
    • (1998) Adv Neurol , vol.78 , pp. 303-308
    • Hyland, K.1    Arnold, L.A.2    Trugmann, J.M.3
  • 6
    • 18744432269 scopus 로고    scopus 로고
    • Dopa-responsive dystonia due to large deletion in the GTP cyclohydrolase I gene
    • Furukawa Y, Guttmann M, Sparagana SP, et al. Dopa-responsive dystonia due to large deletion in the GTP cyclohydrolase I gene. Ann Neurol 2000;47:517-520.
    • (2000) Ann Neurol , vol.47 , pp. 517-520
    • Furukawa, Y.1    Guttmann, M.2    Sparagana, S.P.3
  • 7
    • 0022976750 scopus 로고
    • Hereditary dystonia-parkinsonism syndrome of juvenile onset
    • Nygaard TG, Duvoisin RC. Hereditary dystonia-parkinsonism syndrome of juvenile onset. Neurology 1986;36:1424-1428.
    • (1986) Neurology , vol.36 , pp. 1424-1428
    • Nygaard, T.G.1    Duvoisin, R.C.2
  • 8
    • 0023780927 scopus 로고
    • Long-term treatment with levodopa in a family with autosomal dominant torsion dystonia
    • De Yebenes JG, Moskowitz C, Fahn S, Saint-Hilaire MH. Long-term treatment with levodopa in a family with autosomal dominant torsion dystonia. Adv Neurol 1988;50:101-111.
    • (1988) Adv Neurol , vol.50 , pp. 101-111
    • De Yebenes, J.G.1    Moskowitz, C.2    Fahn, S.3    Saint-Hilaire, M.H.4
  • 9
    • 0031608977 scopus 로고    scopus 로고
    • Dopa-responsive dystonia: A syndrome of selective nigrostriatal dopamine deficiency
    • Jeon B, Jeong JM, Park SS, Lee MC. Dopa-responsive dystonia: a syndrome of selective nigrostriatal dopamine deficiency. Adv Neurol 1998; 78:309-318.
    • (1998) Adv Neurol , vol.78 , pp. 309-318
    • Jeon, B.1    Jeong, J.M.2    Park, S.S.3    Lee, M.C.4
  • 10
    • 0021149887 scopus 로고
    • Dystonia in 61-year-old identical twins: Observations over 45 years
    • Eldridge R, Ince SE, Chernow B, et al. Dystonia in 61-year-old identical twins: observations over 45 years. Ann Neurol 1984;16:356-358.
    • (1984) Ann Neurol , vol.16 , pp. 356-358
    • Eldridge, R.1    Ince, S.E.2    Chernow, B.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.