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Journal Abstract Search

310 related items for PubMed ID: 12442699

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  • 3. [Dopa-responsive dystonia].
    Furukawa Y.
    Rinsho Shinkeigaku; 2006 Nov; 46(11):769-73. PubMed ID: 17432176
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  • 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
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  • 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 Dec; 8(6):e65215. PubMed ID: 23762320
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  • 7. [Dopa-responsive dystonia (Segawa syndrome) with secondary skeleton deformity].
    Budrewicz SP, Góral M, Koszewicz M, Tarantowicz P, Podemski R.
    Wiad Lek; 2006 Dec; 59(9-10):713-5. PubMed ID: 17338136
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  • 8. [Autosomal-dominant DOPA-responsive dystonia, caused by mutations in the GTP-cyclohydrolase I gene].
    Nagatsu T, Ichinose H.
    Vopr Med Khim; 1998 Dec; 44(3):225-8. PubMed ID: 9703621
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  • 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, French Dystonia Network.
    Brain; 2009 Jul; 132(Pt 7):1753-63. PubMed ID: 19491146
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  • 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
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  • 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
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  • 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 22; 644():48-54. PubMed ID: 28087438
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  • 17. Diagnosing dopamine-responsive dystonias.
    Malek N, Fletcher N, Newman E.
    Pract Neurol; 2015 Oct 22; 15(5):340-5. PubMed ID: 26045581
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  • 18. Autosomal-dominant guanosine triphosphate cyclohydrolase I deficiency with novel mutations.
    Yum MS, Ko TS, Yoo HW, Chung SJ.
    Pediatr Neurol; 2008 May 22; 38(5):367-9. PubMed ID: 18410856
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  • 19. Dopa-responsive dystonia is induced by a dominant-negative mechanism.
    Hwu WL, Chiou YW, Lai SY, Lee YM.
    Ann Neurol; 2000 Oct 22; 48(4):609-13. PubMed ID: 11026444
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  • 20. Dopa-responsive dystonia: recent advances and remaining issues to be addressed.
    Furukawa Y, Kish SJ.
    Mov Disord; 1999 Sep 22; 14(5):709-15. PubMed ID: 10495030
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