162 related articles for article (PubMed ID: 18554280)
21. Dystonia with motor delay in compound heterozygotes for GTP-cyclohydrolase I gene mutations.
Furukawa Y; Kish SJ; Bebin EM; Jacobson RD; Fryburg JS; Wilson WG; Shimadzu M; Hyland K; Trugman JM
Ann Neurol; 1998 Jul; 44(1):10-6. PubMed ID: 9667588
[TBL] [Abstract][Full Text] [Related]
22. Dopa-Responsive Dystonia in Han Chinese Patients: One Novel Heterozygous Mutation in GTP Cyclohydrolase 1 (GCH1) and Three Known Mutations in TH.
Yang K; Yin R; Lan X; Zhang Y; Cheng H; Wang S; Wang C; Lu Y; Xi J; Lu Q; Huang J; Chen Y
Med Sci Monit; 2018 Feb; 24():751-757. PubMed ID: 29405179
[TBL] [Abstract][Full Text] [Related]
23. GTP cyclohydrolase I gene, tetrahydrobiopterin, and tyrosine hydroxylase gene: their relations to dystonia and parkinsonism.
Nagatsu T; Ichinose H
Neurochem Res; 1996 Feb; 21(2):245-50. PubMed ID: 9182249
[TBL] [Abstract][Full Text] [Related]
24. Clinical similarities of hereditary progressive/dopa responsive dystonia caused by different types of mutations in the GTP cyclohydrolase I gene.
Tamaru Y; Hirano M; Ito H; Kawamura J; Matsumoto S; Imai T; Ueno S
J Neurol Neurosurg Psychiatry; 1998 Apr; 64(4):469-73. PubMed ID: 9576537
[TBL] [Abstract][Full Text] [Related]
25. A novel missense mutation of the GTP cyclohydrolase I gene in a Korean family with hereditary progressive dystonia/dopa-responsive dystonia.
Kang JH; Kang SY; Kang HK; Koh YS; Im JH; Lee MC
Brain Dev; 2004 Aug; 26(5):287-91. PubMed ID: 15165667
[TBL] [Abstract][Full Text] [Related]
26. Dopa-responsive dystonia in British patients: new mutations of the GTP-cyclohydrolase I gene and evidence for genetic heterogeneity.
Bandmann O; Nygaard TG; Surtees R; Marsden CD; Wood NW; Harding AE
Hum Mol Genet; 1996 Mar; 5(3):403-6. PubMed ID: 8852666
[TBL] [Abstract][Full Text] [Related]
27. [Molecular genetics of hereditary progressive dystonia (HPD/Segawa's disease)].
Ichinose H; Nagatsu T
Nihon Rinsho; 1996 May; 54(5):1453-9. PubMed ID: 8965384
[TBL] [Abstract][Full Text] [Related]
28. [TH gene mutation in Chinese patients with autosomal recessive dopa-responsive dystonia].
Liu W; Tang BS; Cao GF; Chen T; Li HY
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2004 Oct; 21(5):452-4. PubMed ID: 15476168
[TBL] [Abstract][Full Text] [Related]
29. Molecular genetics of dopa-responsive dystonia.
Ichinose H; Suzuki T; Inagaki H; Ohye T; Nagatsu T
Biol Chem; 1999 Dec; 380(12):1355-64. PubMed ID: 10661862
[TBL] [Abstract][Full Text] [Related]
30. Dopa-responsive dystonia due to a large deletion in the GTP cyclohydrolase I gene.
Furukawa Y; Guttman M; Sparagana SP; Trugman JM; Hyland K; Wyatt P; Lang AE; Rouleau GA; Shimadzu M; Kish SJ
Ann Neurol; 2000 Apr; 47(4):517-20. PubMed ID: 10762165
[TBL] [Abstract][Full Text] [Related]
31. [Clinical and genetic characteristics of children with dopa-responsive dystonia caused by tyrosine hydroxylase gene variations].
Zhang GY; Cai ZJ; Zhang XL; Yang L; Li YZ; Wei LK; Zhang YP; Chang PP; Zhu DN
Zhonghua Er Ke Za Zhi; 2023 Apr; 61(4):339-344. PubMed ID: 37011980
[No Abstract] [Full Text] [Related]
32. A novel missense mutation in GTP cyclohydrolase I (GCH1) gene causes Dopa-responsive dystonia in Chinese Han population.
Hu FY; Xu YM; Yu LH; Ma MY; He XH; Zhou D
Eur J Neurol; 2011 Feb; 18(2):362-364. PubMed ID: 20491893
[TBL] [Abstract][Full Text] [Related]
33. Two novel mutations of the GTP cyclohydrolase 1 gene and genotype-phenotype correlation in Chinese Dopa-responsive dystonia patients.
Yu L; Zhou H; Hu F; Xu Y
Eur J Hum Genet; 2013 Jul; 21(7):731-5. PubMed ID: 23211702
[TBL] [Abstract][Full Text] [Related]
34. [Segawa disease (hereditary progressive dystonia with marked diurnal fluctuation-HPD) and abnormalities in pteridin metabolism].
Segawa M
Rinsho Shinkeigaku; 1996 Dec; 36(12):1322-3. PubMed ID: 9128393
[TBL] [Abstract][Full Text] [Related]
35. Residual signs of dopa-responsive dystonia with GCH1 mutation following levodopa treatment are uncommon in Korean patients.
Ahn TB; Chung SJ; Koh SB; Park HY; Cho JW; Lee JH; Hong JY; Kwon DY; Shin C; Lee JY; Lee WW; Jeon B
Parkinsonism Relat Disord; 2019 Aug; 65():248-251. PubMed ID: 31213404
[TBL] [Abstract][Full Text] [Related]
36. [Mutation analysis of GCH1 gene in Chinese patients with dopa responsive dystonia].
Li J; Tang BS; Guo JF; Zhang YH; Xie ZG; Yan XX; Shen L; Jiang H; Zhang XW; Xia K; Pan Q
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2007 Jun; 24(3):302-4. PubMed ID: 17557242
[TBL] [Abstract][Full Text] [Related]
37. Novel GCH1 mutation in a Brazilian family with dopa-responsive dystonia.
Camargos ST; Cardoso F; Momeni P; Gianetti JG; Lees A; Hardy J; Singleton A
Mov Disord; 2008 Jan; 23(2):299-302. PubMed ID: 18044725
[TBL] [Abstract][Full Text] [Related]
38. A novel missense mutation of the GTP cyclohydrolase 1 gene in a Taiwanese family with dopa-responsive dystonia: A case report.
Yang CC; Wang WC; Yeh TH; Chen TH; Liu YL; Lu MK; Lu CS; Tsai CH
Clin Neurol Neurosurg; 2018 Feb; 165():21-23. PubMed ID: 29289916
[TBL] [Abstract][Full Text] [Related]
39. GTP-cyclohydrolase I gene mutations in hereditary progressive amd dopa-responsive dystonia.
Furukawa Y; Shimadzu M; Rajput AH; Shimizu Y; Tagawa T; Mori H; Yokochi M; Narabayashi H; Hornykiewicz O; Mizuno Y; Kish SJ
Ann Neurol; 1996 May; 39(5):609-17. PubMed ID: 8619546
[TBL] [Abstract][Full Text] [Related]
40. GCH1 mutations in dopa-responsive dystonia and Parkinson's disease.
Yoshino H; Nishioka K; Li Y; Oji Y; Oyama G; Hatano T; Machida Y; Shimo Y; Hayashida A; Ikeda A; Mogushi K; Shibagaki Y; Hosaka A; Iwanaga H; Fujitake J; Ohi T; Miyazaki D; Sekijima Y; Oki M; Kusaka H; Fujimoto KI; Ugawa Y; Funayama M; Hattori N
J Neurol; 2018 Aug; 265(8):1860-1870. PubMed ID: 29948246
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
