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Journal Abstract Search

189 related items for PubMed ID: 21429827

  • 1. [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]

  • 2. [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]

  • 3. 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]

  • 4.
    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Furukawa Y.
    ; 1993 Dec. PubMed ID: 20301681
    [Abstract] [Full Text] [Related]

  • 5. 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]

  • 6. 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]

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

  • 9. 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; 30(6):796-9. PubMed ID: 24939974
    [Abstract] [Full Text] [Related]

  • 10. 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
    [Abstract] [Full Text] [Related]

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

  • 12. Dopa-responsive infantile hypokinetic rigid syndrome due to dominant guanosine triphosphate cyclohydrolase 1 deficiency.
    López-Laso E, Camino R, Mateos ME, Pérez-Navero JL, Ochoa JJ, Lao-Villadóniga JI, Ormazabal A, Artuch R.
    J Neurol Sci; 2007 May 15; 256(1-2):90-3. PubMed ID: 17368676
    [Abstract] [Full Text] [Related]

  • 13. Segawa disease with a novel heterozygous mutation in exon 5 of the GCH-1 gene (E183K).
    Ikeda T, Kanmura K, Kodama Y, Sawada K, Nunoi H, Hasegawa K.
    Brain Dev; 2009 Feb 15; 31(2):173-5. PubMed ID: 18621497
    [Abstract] [Full Text] [Related]

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

  • 15. Novel mutations in the guanosine triphosphate cyclohydrolase 1 gene associated with DYT5 dystonia.
    Ohta E, Funayama M, Ichinose H, Toyoshima I, Urano F, Matsuo M, Tomoko N, Yukihiko K, Yoshino S, Yokoyama H, Shimazu H, Maeda K, Hasegawa K, Obata F.
    Arch Neurol; 2006 Nov 15; 63(11):1605-10. PubMed ID: 17101830
    [Abstract] [Full Text] [Related]

  • 16. 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 15; 165():21-23. PubMed ID: 29289916
    [Abstract] [Full Text] [Related]

  • 17. Guanine triphosphate-cyclohydrolase 1-deficient dopa-responsive dystonia presenting as frequent falling in 2 children.
    Tsao CY.
    J Child Neurol; 2012 Mar 15; 27(3):389-91. PubMed ID: 22068827
    [Abstract] [Full Text] [Related]

  • 18. [Dopa-responsive dystonia (Segawa syndrome) with secondary skeleton deformity].
    Budrewicz SP, Góral M, Koszewicz M, Tarantowicz P, Podemski R.
    Wiad Lek; 2006 Mar 15; 59(9-10):713-5. PubMed ID: 17338136
    [Abstract] [Full Text] [Related]

  • 19. Novel GCH-1 mutations and unusual long-lasting dyskinesias in Korean families with dopa-responsive dystonia.
    Lee JY, Yang HJ, Kim JM, Jeon BS.
    Parkinsonism Relat Disord; 2013 Dec 15; 19(12):1156-9. PubMed ID: 24018121
    [Abstract] [Full Text] [Related]

  • 20. Autosomal dominant GTP cyclohydrolase I (AD GCH 1) deficiency (Segawa disease, dystonia 5; DYT 5).
    Segawa M.
    Chang Gung Med J; 2009 Dec 15; 32(1):1-11. PubMed ID: 19292934
    [Abstract] [Full Text] [Related]

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