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Volumn 66, Issue 4, 2006, Pages 599-601

Familial dopa-responsive cervical dystonia

Author keywords

[No Author keywords available]

Indexed keywords

BACLOFEN; CARBIDOPA PLUS LEVODOPA; GUANOSINE TRIPHOSPHATE CYCLOHYDROLASE I; LEVODOPA; SEPIAPTERIN REDUCTASE; TYROSINE 3 MONOOXYGENASE; ANTIPARKINSON AGENT; CARBIDOPA;

EID: 33645006572     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/01.wnl.0000198501.61063.66     Document Type: Article
Times cited : (35)

References (10)
  • 1
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    • Update on dopa-responsive dystonia: Locus heterogeneity and biochemical features
    • Furukawa Y. Update on dopa-responsive dystonia: locus heterogeneity and biochemical features. Adv Neurol 2004;94:127-138.
    • (2004) Adv Neurol , vol.94 , pp. 127-138
    • Furukawa, Y.1
  • 2
    • 0025124542 scopus 로고
    • Dopa-responsive dystonia: The spectrum of clinical manifestations in a large North American family
    • Nygaard TG, Trugman JM, de Yebenes, Fahn S. Dopa-responsive dystonia: the spectrum of clinical manifestations in a large North American family. Neurology 1990;40:66-69.
    • (1990) Neurology , vol.40 , pp. 66-69
    • Nygaard, T.G.1    Trugman, J.M.2    De Yebenes3    Fahn, S.4
  • 4
    • 5444257312 scopus 로고    scopus 로고
    • Heterozygous mutation in 5′-untranslated region of sepiapterin reductase gene (SPR) in a patient with dopa-responsive dystonia
    • Steinberger D, Blau N, Goriuonov D, et al. Heterozygous mutation in 5′-untranslated region of sepiapterin reductase gene (SPR) in a patient with dopa-responsive dystonia. Neurogenetics 2004;5:187-190.
    • (2004) Neurogenetics , vol.5 , pp. 187-190
    • Steinberger, D.1    Blau, N.2    Goriuonov, D.3
  • 5
    • 0034110552 scopus 로고    scopus 로고
    • Four novel mutations in the tyrosine hydroxylase gene in patients with infantile parkinsonism
    • Swaans RJ, Rondot P, Renier WO, et al. Four novel mutations in the tyrosine hydroxylase gene in patients with infantile parkinsonism. Ann Hum Genet 2000;64:25-31.
    • (2000) Ann Hum Genet , vol.64 , pp. 25-31
    • Swaans, R.J.1    Rondot, P.2    Renier, W.O.3
  • 7
    • 17144432891 scopus 로고    scopus 로고
    • Tyrosine hydroxylase deficiency causes progressive encephalopathy and dopa-nonresponsive dystonia
    • Hoffmann GF, Assmann B, Brautigam C, et al. Tyrosine hydroxylase deficiency causes progressive encephalopathy and dopa-nonresponsive dystonia. Ann Neurol. 2003;54(suppl 6):S56-S65.
    • (2003) Ann Neurol , vol.54 , Issue.6 SUPPL.
    • Hoffmann, G.F.1    Assmann, B.2    Brautigam, C.3
  • 8
    • 18544406486 scopus 로고    scopus 로고
    • 6-Pyruvoyl-tetrahydropterin synthase deficiency with generalized dystonia and diurnal fluctuation of symptoms: A clinical and molecular study
    • Hanihara T, Inoue K, Kawanishi C, et al. 6-Pyruvoyl-tetrahydropterin synthase deficiency with generalized dystonia and diurnal fluctuation of symptoms: a clinical and molecular study. Mov Disord 1997;12:408-411.
    • (1997) Mov Disord , vol.12 , pp. 408-411
    • Hanihara, T.1    Inoue, K.2    Kawanishi, C.3
  • 9
    • 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


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.