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Journal Abstract Search

355 related items for PubMed ID: 17971156

  • 1. Segawa's disease: dopa-responsive dystonia.
    Gordon N.
    Int J Clin Pract; 2008 Jun; 62(6):943-6. PubMed ID: 17971156
    [Abstract] [Full Text] [Related]

  • 2. [Segawa's disease].
    Ichinose H.
    Rinsho Shinkeigaku; 2000 Dec; 40(12):1284-6. PubMed ID: 11464480
    [Abstract] [Full Text] [Related]

  • 3. 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
    [Abstract] [Full Text] [Related]

  • 4. [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
    [Abstract] [Full Text] [Related]

  • 5. 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
    [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
    [Abstract] [Full Text] [Related]

  • 7. 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
    [Abstract] [Full Text] [Related]

  • 8. [Hereditary progressive dystonia with marked diurnal fluctuation; dominant Dopa-responsive dystonia linked to GTP cyclohydrolase I gene (HPD/DRD); Segawa's disease].
    Segawa M.
    Ryoikibetsu Shokogun Shirizu; 1999 May; (27 Pt 2):144-7. PubMed ID: 10434614
    [No Abstract] [Full Text] [Related]

  • 9. Tyrosine hydroxylase deficiency causes progressive encephalopathy and dopa-nonresponsive dystonia.
    Hoffmann GF, Assmann B, Bräutigam C, Dionisi-Vici C, Häussler M, de Klerk JB, Naumann M, Steenbergen-Spanjers GC, Strassburg HM, Wevers RA.
    Ann Neurol; 2003 May; 54 Suppl 6():S56-65. PubMed ID: 12891655
    [Abstract] [Full Text] [Related]

  • 10. [Dopa-responsive dystonia: clinical, genetic, and biochemical studies].
    Furukawa Y.
    Rinsho Shinkeigaku; 2006 Jan; 46(1):19-34. PubMed ID: 16541791
    [Abstract] [Full Text] [Related]

  • 11. [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
    [Abstract] [Full Text] [Related]

  • 12. [Dopa-responsive dystonia--a hereditary dystonia easy to treat].
    Farbu E, Bindoff LA.
    Tidsskr Nor Laegeforen; 2002 Feb 10; 122(4):379-81. PubMed ID: 11915666
    [Abstract] [Full Text] [Related]

  • 13. Autosomal dominant guanosine triphosphate cyclohydrolase I deficiency (Segawa disease).
    Segawa M, Nomura Y, Nishiyama N.
    Ann Neurol; 2003 Feb 10; 54 Suppl 6():S32-45. PubMed ID: 12891652
    [Abstract] [Full Text] [Related]

  • 14. [Dopa-responsive dystonia (Segawa syndrome) with secondary skeleton deformity].
    Budrewicz SP, Góral M, Koszewicz M, Tarantowicz P, Podemski R.
    Wiad Lek; 2006 Feb 10; 59(9-10):713-5. PubMed ID: 17338136
    [Abstract] [Full Text] [Related]

  • 15. [Autosomal-dominant DOPA-responsive dystonia, caused by mutations in the GTP-cyclohydrolase I gene].
    Nagatsu T, Ichinose H.
    Vopr Med Khim; 1998 Feb 10; 44(3):225-8. PubMed ID: 9703621
    [Abstract] [Full Text] [Related]

  • 16. The hph-1 mouse: a model for dominantly inherited GTP-cyclohydrolase deficiency.
    Hyland K, Gunasekara RS, Munk-Martin TL, Arnold LA, Engle T.
    Ann Neurol; 2003 Feb 10; 54 Suppl 6():S46-8. PubMed ID: 12891653
    [Abstract] [Full Text] [Related]

  • 17. Genetics and biochemistry of dopa-responsive dystonia: significance of striatal tyrosine hydroxylase protein loss.
    Furukawa Y.
    Adv Neurol; 2003 Feb 10; 91():401-10. PubMed ID: 12442699
    [Abstract] [Full Text] [Related]

  • 18. 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 10; 132(Pt 7):1753-63. PubMed ID: 19491146
    [Abstract] [Full Text] [Related]

  • 19. [Identification of the causative gene for Segawa's disease].
    Ichinose H, Nagatsu T.
    Rinsho Shinkeigaku; 2007 Nov 10; 47(11):735-8. PubMed ID: 18210787
    [Abstract] [Full Text] [Related]

  • 20. Growth hormone deficiency in a dopa-responsive dystonia patient with a novel mutation of guanosine triphosphate cyclohydrolase 1 gene.
    Lin Y, Wang DN, Chen WJ, Lin X, Lin MT, Wang N.
    J Child Neurol; 2015 May 10; 30(6):796-9. PubMed ID: 24939974
    [Abstract] [Full Text] [Related]

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