메뉴 건너뛰기




Volumn 38, Issue 5, 2008, Pages 367-369

Autosomal-Dominant Guanosine Triphosphate Cyclohydrolase I Deficiency With Novel Mutations

Author keywords

[No Author keywords available]

Indexed keywords

CARBIDOPA PLUS LEVODOPA; GUANOSINE TRIPHOSPHATE CYCLOHYDROLASE I;

EID: 41849135810     PISSN: 08878994     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.pediatrneurol.2008.01.012     Document Type: Article
Times cited : (3)

References (13)
  • 1
    • 0016913614 scopus 로고
    • Hereditary progressive dystonia with marked diurnal fluctuation
    • Segawa M., Hosaka A., Miyagawa F., Nomura Y., and Imai H. Hereditary progressive dystonia with marked diurnal fluctuation. Adv Neurol 14 (1976) 215-233
    • (1976) Adv Neurol , vol.14 , pp. 215-233
    • Segawa, M.1    Hosaka, A.2    Miyagawa, F.3    Nomura, Y.4    Imai, H.5
  • 2
    • 0042868558 scopus 로고    scopus 로고
    • Autosomal dominant guanosine triphosphate cyclohydrolase I deficiency (Segawa disease)
    • Segawa M., Nomura Y., and Nishiyama N. Autosomal dominant guanosine triphosphate cyclohydrolase I deficiency (Segawa disease). Ann Neurol 54 Suppl. 6 (2003) S32-S45
    • (2003) Ann Neurol , vol.54 , Issue.SUPPL. 6
    • Segawa, M.1    Nomura, Y.2    Nishiyama, N.3
  • 3
    • 0026021079 scopus 로고
    • Dopa-responsive dystonia: Long-term treatment response and prognosis
    • Nygaard T.G., Marsden C.D., and Fahn S. Dopa-responsive dystonia: Long-term treatment response and prognosis. Neurology 41 (1991) 174-181
    • (1991) Neurology , vol.41 , pp. 174-181
    • Nygaard, T.G.1    Marsden, C.D.2    Fahn, S.3
  • 4
    • 4644320302 scopus 로고    scopus 로고
    • Misdiagnoses in children with dopa-responsive dystonia
    • Jan M.M. Misdiagnoses in children with dopa-responsive dystonia. Pediatr Neurol 31 (2004) 298-303
    • (2004) Pediatr Neurol , vol.31 , pp. 298-303
    • Jan, M.M.1
  • 7
    • 33748150023 scopus 로고    scopus 로고
    • Dopa-responsive dystonia (Segawa syndrome)
    • Kamal N., Bhat D.P., and Carrick E. Dopa-responsive dystonia (Segawa syndrome). Indian Pediatr 43 (2006) 635-638
    • (2006) Indian Pediatr , vol.43 , pp. 635-638
    • Kamal, N.1    Bhat, D.P.2    Carrick, E.3
  • 8
    • 0023243983 scopus 로고
    • Oculogyric crisis: A syndrome of thought disorder and ocular deviation
    • Leigh R.J., Foley J.M., Remler B.F., and Civil R.H. Oculogyric crisis: A syndrome of thought disorder and ocular deviation. Ann Neurol 22 (1987) 13-17
    • (1987) Ann Neurol , vol.22 , pp. 13-17
    • Leigh, R.J.1    Foley, J.M.2    Remler, B.F.3    Civil, R.H.4
  • 9
    • 0035936609 scopus 로고    scopus 로고
    • Dopa-responsive dystonia simulating spastic paraplegia due to tyrosine hydroxylase (TH) gene mutations
    • Furukawa Y., Graf W.D., Wong H., Shimadzu M., and Kish S.J. Dopa-responsive dystonia simulating spastic paraplegia due to tyrosine hydroxylase (TH) gene mutations. Neurology 56 (2001) 260-263
    • (2001) Neurology , vol.56 , pp. 260-263
    • Furukawa, Y.1    Graf, W.D.2    Wong, H.3    Shimadzu, M.4    Kish, S.J.5
  • 10
    • 0033849550 scopus 로고    scopus 로고
    • Autosomal recessive early-onset parkinsonism with diurnal fluctuation: Clinicopathologic characteristics and molecular genetic identification
    • Yamamura Y., Hattori N., Matsumine H., Kuzuhara S., and Mizuno Y. Autosomal recessive early-onset parkinsonism with diurnal fluctuation: Clinicopathologic characteristics and molecular genetic identification. Brain Dev 22 Suppl. 1 (2000) S87-S91
    • (2000) Brain Dev , vol.22 , Issue.SUPPL. 1
    • Yamamura, Y.1    Hattori, N.2    Matsumine, H.3    Kuzuhara, S.4    Mizuno, Y.5
  • 11
    • 0031578225 scopus 로고    scopus 로고
    • Differential splicing of the GTP cyclohydrolase I RNA in dopa-responsive dystonia
    • Hirano M., Imaiso Y., and Ueno S. Differential splicing of the GTP cyclohydrolase I RNA in dopa-responsive dystonia. Biochem Biophys Res Commun 234 (1997) 316-319
    • (1997) Biochem Biophys Res Commun , vol.234 , pp. 316-319
    • Hirano, M.1    Imaiso, Y.2    Ueno, S.3
  • 12
    • 0031909292 scopus 로고    scopus 로고
    • A novel mutation of the GTP-cyclohydrolase I gene in a patient with hereditary progressive dystonia/dopa-responsive dystonia
    • Imaiso Y., Taniwaki T., Yamada T., et al. A novel mutation of the GTP-cyclohydrolase I gene in a patient with hereditary progressive dystonia/dopa-responsive dystonia. Neurology 50 (1998) 517-519
    • (1998) Neurology , vol.50 , pp. 517-519
    • Imaiso, Y.1    Taniwaki, T.2    Yamada, T.3
  • 13


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.