312 related articles for article (PubMed ID: 12442699)
1. Genetics and biochemistry of dopa-responsive dystonia: significance of striatal tyrosine hydroxylase protein loss.
Furukawa Y
Adv Neurol; 2003; 91():401-10. PubMed ID: 12442699
[TBL] [Abstract][Full Text] [Related]
2. [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]
3. [Dopa-responsive dystonia].
Furukawa Y
Rinsho Shinkeigaku; 2006 Nov; 46(11):769-73. PubMed ID: 17432176
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. GTP cyclohydrolase I and tyrosine hydroxylase gene mutations in familial and sporadic dopa-responsive dystonia patients.
Cai C; Shi W; Zeng Z; Zhang M; Ling C; Chen L; Cai C; Zhang B; Li WD
PLoS One; 2013; 8(6):e65215. PubMed ID: 23762320
[TBL] [Abstract][Full Text] [Related]
6. A case of late-onset Segawa syndrome (autosomal dominant dopa-responsive dystonia) with a novel mutation of the GTP-cyclohydrase I (GCH1) gene.
Furuya H; Murai H; Takasugi K; Ohyagi Y; Urano F; Kishi T; Ichinose H; Kira J
Clin Neurol Neurosurg; 2006 Dec; 108(8):784-6. PubMed ID: 16289769
[TBL] [Abstract][Full Text] [Related]
7. [Dopa-responsive dystonia (Segawa syndrome) with secondary skeleton deformity].
Budrewicz SP; Góral M; Koszewicz M; Tarantowicz P; Podemski R
Wiad Lek; 2006; 59(9-10):713-5. PubMed ID: 17338136
[TBL] [Abstract][Full Text] [Related]
8. [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]
9. Exhaustive analysis of BH4 and dopamine biosynthesis genes in patients with Dopa-responsive dystonia.
Clot F; Grabli D; Cazeneuve C; Roze E; Castelnau P; Chabrol B; Landrieu P; Nguyen K; Ponsot G; Abada M; Doummar D; Damier P; Gil R; Thobois S; Ward AJ; Hutchinson M; Toutain A; Picard F; Camuzat A; Fedirko E; Sân C; Bouteiller D; LeGuern E; Durr A; Vidailhet M; Brice A;
Brain; 2009 Jul; 132(Pt 7):1753-63. PubMed ID: 19491146
[TBL] [Abstract][Full Text] [Related]
10. Dopa-responsive dystonia presenting as delayed and awkward gait.
Cheyette BN; Cheyette SN; Cusmano-Ozog K; Enns GM
Pediatr Neurol; 2008 Apr; 38(4):273-5. PubMed ID: 18358407
[TBL] [Abstract][Full Text] [Related]
11. Segawa's disease: dopa-responsive dystonia.
Gordon N
Int J Clin Pract; 2008 Jun; 62(6):943-6. PubMed ID: 17971156
[TBL] [Abstract][Full Text] [Related]
12. [GTP cyclohydrolase 1-deficient dopa-responsive hereditary dystonia].
Teva Galán MD; Esteban Cantó V; Picó Alfonso N; Jover Cerdá J
An Pediatr (Barc); 2011 Jul; 75(1):55-7. PubMed ID: 21429827
[TBL] [Abstract][Full Text] [Related]
13. Mutations of GCH1 in Dopa-responsive dystonia.
Müller U; Steinberger D; Topka H
J Neural Transm (Vienna); 2002 Mar; 109(3):321-8. PubMed ID: 11956954
[TBL] [Abstract][Full Text] [Related]
14. Phenotypic heterogeneity of dopa-responsive dystonia in monozygotic twins.
Grötzsch H; Schnorf H; Morris MA; Moix I; Horvath J; Prilipko O; Burkhard PR
Neurology; 2004 Feb; 62(4):637-9. PubMed ID: 14981186
[TBL] [Abstract][Full Text] [Related]
15. Brain biopterin and tyrosine hydroxylase in asymptomatic dopa-responsive dystonia.
Furukawa Y; Kapatos G; Haycock JW; Worsley J; Wong H; Kish SJ; Nygaard TG
Ann Neurol; 2002 May; 51(5):637-41. PubMed ID: 12112113
[TBL] [Abstract][Full Text] [Related]
16. Dopa-responsive dystonia in Chinese patients: Including a novel heterozygous mutation in the GCH1 gene with an intermediate phenotype and one case of prenatal diagnosis.
Zhang W; Zhou Z; Li X; Huang Y; Li T; Lin Y; Shao Y; Hu H; Liu H; Liu L
Neurosci Lett; 2017 Mar; 644():48-54. PubMed ID: 28087438
[TBL] [Abstract][Full Text] [Related]
17. Diagnosing dopamine-responsive dystonias.
Malek N; Fletcher N; Newman E
Pract Neurol; 2015 Oct; 15(5):340-5. PubMed ID: 26045581
[TBL] [Abstract][Full Text] [Related]
18. Autosomal-dominant guanosine triphosphate cyclohydrolase I deficiency with novel mutations.
Yum MS; Ko TS; Yoo HW; Chung SJ
Pediatr Neurol; 2008 May; 38(5):367-9. PubMed ID: 18410856
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. Dopa-responsive dystonia: recent advances and remaining issues to be addressed.
Furukawa Y; Kish SJ
Mov Disord; 1999 Sep; 14(5):709-15. PubMed ID: 10495030
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
