Segawa M - Search Results

1

Decrease in GTP cyclohydrolase I gene expression caused by inactivation of one allele in hereditary progressive dystonia with marked diurnal fluctuation.

Inagaki H, Ohye T, Suzuki T, Segawa M, Nomura Y, Nagatsu T, Ichinose H. Inagaki H, et al. Among authors: segawa m. Biochem Biophys Res Commun. 1999 Jul 14;260(3):747-51. doi: 10.1006/bbrc.1999.0976. Biochem Biophys Res Commun. 1999. PMID: 10403837

2

GTP cyclohydrolase I gene in hereditary progressive dystonia with marked diurnal fluctuation.

Ichinose H, Ohye T, Segawa M, Nomura Y, Endo K, Tanaka H, Tsuji S, Fujita K, Nagatsu T. Ichinose H, et al. Among authors: segawa m. Neurosci Lett. 1995 Aug 18;196(1-2):5-8. doi: 10.1016/0304-3940(95)11820-m. Neurosci Lett. 1995. PMID: 7501255

3

Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I gene.

Ichinose H, Ohye T, Takahashi E, Seki N, Hori T, Segawa M, Nomura Y, Endo K, Tanaka H, Tsuji S, et al. Ichinose H, et al. Among authors: segawa m. Nat Genet. 1994 Nov;8(3):236-42. doi: 10.1038/ng1194-236. Nat Genet. 1994. PMID: 7874165

4

The gene for hereditary progressive dystonia with marked diurnal fluctuation maps to chromosome 14q.

Tanaka H, Endo K, Tsuji S, Nygaard TG, Weeks DE, Nomura Y, Segawa M. Tanaka H, et al. Among authors: segawa m. Ann Neurol. 1995 Mar;37(3):405-8. doi: 10.1002/ana.410370319. Ann Neurol. 1995. PMID: 7695242

5

Hereditary progressive dystonia with marked diurnal fluctuation. Pathophysiological importance of the age of onset.

Segawa M, Nomura Y. Segawa M, et al. Adv Neurol. 1993;60:568-76. Adv Neurol. 1993. PMID: 8420193 Review. No abstract available.

6

Gene mutation in hereditary progressive dystonia with marked diurnal fluctuation (HPD), strictly defined dopa-responsive dystonia.

Nishiyama N, Yukishita S, Hagiwara H, Kakimoto S, Nomura Y, Segawa M. Nishiyama N, et al. Among authors: segawa m. Brain Dev. 2000 Sep;22 Suppl 1:S102-6. doi: 10.1016/s0387-7604(00)00152-2. Brain Dev. 2000. PMID: 10984668

7

Genetics and pathophysiology of primary dystonia with special emphasis on DYT1 and DYT5.

Segawa M, Nomura Y. Segawa M, et al. Semin Neurol. 2014 Jul;34(3):306-11. doi: 10.1055/s-0034-1386768. Epub 2014 Sep 5. Semin Neurol. 2014. PMID: 25192508 Review.

8

Autosomal dominant guanosine triphosphate cyclohydrolase I deficiency (Segawa disease).

Segawa M, Nomura Y, Nishiyama N. Segawa M, et al. Ann Neurol. 2003;54 Suppl 6:S32-45. doi: 10.1002/ana.10630. Ann Neurol. 2003. PMID: 12891652 Review.

9

Is phenotypic variation of hereditary progressive dystonia with marked diurnal fluctuation/dopa-responsive dystonia (HPD/DRD) caused by the difference of the locus of mutation on the GTP cyclohydrolase 1 (GCH-1) gene?

Segawa M, Nomura Y, Yukishita S, Nishiyama N, Yokochi M. Segawa M, et al. Adv Neurol. 2004;94:217-23. Adv Neurol. 2004. PMID: 14509676 No abstract available.

10

Hereditary progressive dystonia with marked diurnal fluctuation: clinicopathophysiological identification in reference to juvenile Parkinson's disease.

Segawa M, Nomura Y, Kase M. Segawa M, et al. Adv Neurol. 1987;45:227-34. Adv Neurol. 1987. PMID: 3825694 No abstract available.

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