221 related articles for article (PubMed ID: 9778264)
1. Dopa-responsive dystonia: a clinical and molecular genetic study.
Bandmann O; Valente EM; Holmans P; Surtees RA; Walters JH; Wevers RA; Marsden CD; Wood NW
Ann Neurol; 1998 Oct; 44(4):649-56. PubMed ID: 9778264
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. Wide expressivity variation and high but no gender-related penetrance in two dopa-responsive dystonia families with a novel GCH-I mutation.
Uncini A; De Angelis MV; Di Fulvio P; Ragno M; Annesi G; Filla A; Stuppia L; Gambi D
Mov Disord; 2004 Oct; 19(10):1139-45. PubMed ID: 15390021
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. 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]
6. Dominant negative effect of GTP cyclohydrolase I mutations in dopa-responsive hereditary progressive dystonia.
Hirano M; Yanagihara T; Ueno S
Ann Neurol; 1998 Sep; 44(3):365-71. PubMed ID: 9749603
[TBL] [Abstract][Full Text] [Related]
7. Dopa-responsive dystonia is induced by a dominant-negative mechanism.
Hwu WL; Chiou YW; Lai SY; Lee YM
Ann Neurol; 2000 Oct; 48(4):609-13. PubMed ID: 11026444
[TBL] [Abstract][Full Text] [Related]
8. 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
Adv Neurol; 2004; 94():217-23. PubMed ID: 14509676
[No Abstract] [Full Text] [Related]
9. [Molecular-genetic analysis of torsion dystonia in Russia].
Markova ED; Slominskiĭ PA; Illarioshkin SN; Miklina NI; Shadrina MI; Popova SN; Limborskaia SA; Ivanova-Smolenskaia IA
Genetika; 2000 Jul; 36(7):952-8. PubMed ID: 10994500
[TBL] [Abstract][Full Text] [Related]
10. Arg(184)His mutant GTP cyclohydrolase I, causing recessive hyperphenylalaninemia, is responsible for dopa-responsive dystonia with parkinsonism: a case report.
Kikuchi A; Takeda A; Fujihara K; Kimpara T; Shiga Y; Tanji H; Nagai M; Ichinose H; Urano F; Okamura N; Arai H; Itoyama Y
Mov Disord; 2004 May; 19(5):590-3. PubMed ID: 15133828
[TBL] [Abstract][Full Text] [Related]
11. 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
Nat Genet; 1994 Nov; 8(3):236-42. PubMed ID: 7874165
[TBL] [Abstract][Full Text] [Related]
12. High mutation rate in dopa-responsive dystonia: detection with comprehensive GCHI screening.
Hagenah J; Saunders-Pullman R; Hedrich K; Kabakci K; Habermann K; Wiegers K; Mohrmann K; Lohnau T; Raymond D; Vieregge P; Nygaard T; Ozelius LJ; Bressman SB; Klein C
Neurology; 2005 Mar; 64(5):908-11. PubMed ID: 15753436
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. Gender-related penetrance and de novo GTP-cyclohydrolase I gene mutations in dopa-responsive dystonia.
Furukawa Y; Lang AE; Trugman JM; Bird TD; Hunter A; Sadeh M; Tagawa T; St George-Hyslop PH; Guttman M; Morris LW; Hornykiewicz O; Shimadzu M; Kish SJ
Neurology; 1998 Apr; 50(4):1015-20. PubMed ID: 9566388
[TBL] [Abstract][Full Text] [Related]
15. [Dopa-responsive dystonia: clinical, genetic, and biochemical studies].
Furukawa Y
Rinsho Shinkeigaku; 2006 Jan; 46(1):19-34. PubMed ID: 16541791
[TBL] [Abstract][Full Text] [Related]
16. [Autosomal-dominant DOPA-responsive dystonia, caused by mutations in the GTP-cyclohydrolase I gene].
Nagatsu T; Ichinose H
Vopr Med Khim; 1998; 44(3):225-8. PubMed ID: 9703621
[TBL] [Abstract][Full Text] [Related]
17. [Hereditary progressive dystonia with marked diurnal fluctuation--clinical features and GTP cyclohydrolase I gene mutations].
Tamaru Y; Ito H; Imai T; Hirano M; Ueno S
Nihon Rinsho; 1997 Jan; 55(1):135-8. PubMed ID: 9014437
[TBL] [Abstract][Full Text] [Related]
18. Dopa-responsive dystonia -- the story so far.
Bandmann O; Wood NW
Neuropediatrics; 2002 Feb; 33(1):1-5. PubMed ID: 11930268
[TBL] [Abstract][Full Text] [Related]
19. [Clinical analysis of dopa-responsive dystonia and mutation analysis of the GCH I gene].
Xie H; Wu ZY; Wang N; Li ZW; Lin MT; Murong SX
Zhonghua Er Ke Za Zhi; 2006 Jul; 44(7):492-5. PubMed ID: 17044972
[TBL] [Abstract][Full Text] [Related]
20. [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]
[Next] [New Search]
