These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

146 related items for PubMed ID: 9921872

  • 21. An intragenic duplication in guanosine triphosphate cyclohydrolase-1 gene in a dopa-responsive dystonia family.
    Ling H, Polke JM, Sweeney MG, Haworth A, Sandford CA, Heales SJ, Wood NW, Davis MB, Lees AJ.
    Mov Disord; 2011 Apr; 26(5):905-9. PubMed ID: 21287604
    [Abstract] [Full Text] [Related]

  • 22. GTP cyclohydrolase I gene, dystonia, juvenile parkinsonism, and Parkinson's disease.
    Nagatsu T, Ichinose H.
    J Neural Transm Suppl; 1997 Apr; 49():203-9. PubMed ID: 9266429
    [Abstract] [Full Text] [Related]

  • 23. Levodopa-responsive dystonia. GTP cyclohydrolase I or parkin mutations?
    Tassin J, Dürr A, Bonnet AM, Gil R, Vidailhet M, Lücking CB, Goas JY, Durif F, Abada M, Echenne B, Motte J, Lagueny A, Lacomblez L, Jedynak P, Bartholomé B, Agid Y, Brice A.
    Brain; 2000 Jun; 123 ( Pt 6)():1112-21. PubMed ID: 10825351
    [Abstract] [Full Text] [Related]

  • 24.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 25. 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
    [Abstract] [Full Text] [Related]

  • 26. GTP cyclohydrolase I gene in hereditary progressive dystonia with marked diurnal fluctuation.
    Ichinose H, Ohye T, Segawa M, Nomura Y, Endo K, Tanaka H, Tsuji S, Fujita K, Nagatsu T.
    Neurosci Lett; 1995 Aug 18; 196(1-2):5-8. PubMed ID: 7501255
    [Abstract] [Full Text] [Related]

  • 27.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 28. 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 18; 31(2):173-5. PubMed ID: 18621497
    [Abstract] [Full Text] [Related]

  • 29.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 30. 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 18; 19(10):1139-45. PubMed ID: 15390021
    [Abstract] [Full Text] [Related]

  • 31. Early replacement therapy in a first Japanese case with autosomal recessive guanosine triphosphate cyclohydrolase I deficiency with a novel point mutation.
    Sato H, Uematsu M, Endo W, Nakayama T, Kobayashi T, Hino-Fukuyo N, Sakamoto O, Shintaku H, Kure S.
    Brain Dev; 2014 Mar 18; 36(3):268-71. PubMed ID: 23660475
    [Abstract] [Full Text] [Related]

  • 32. Hsp27 decreases inclusion body formation from mutated GTP-cyclohydrolase I protein.
    Chiou YW, Hwu WL, Lee YM.
    Biochim Biophys Acta; 2008 Mar 18; 1782(3):169-79. PubMed ID: 18241680
    [Abstract] [Full Text] [Related]

  • 33. Mutant GTP cyclohydrolase I mRNA levels contribute to dopa-responsive dystonia onset.
    Hirano M, Tamaru Y, Ito H, Matsumoto S, Imai T, Ueno S.
    Ann Neurol; 1996 Nov 18; 40(5):796-8. PubMed ID: 8957022
    [Abstract] [Full Text] [Related]

  • 34.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 35. [Molecular genetics of hereditary progressive dystonia (HPD/Segawa's disease)].
    Ichinose H, Nagatsu T.
    Nihon Rinsho; 1996 May 18; 54(5):1453-9. PubMed ID: 8965384
    [Abstract] [Full Text] [Related]

  • 36. Dopamine transporter density measured by [123I]beta-CIT single-photon emission computed tomography is normal in dopa-responsive dystonia.
    Jeon BS, Jeong JM, Park SS, Kim JM, Chang YS, Song HC, Kim KM, Yoon KY, Lee MC, Lee SB.
    Ann Neurol; 1998 Jun 18; 43(6):792-800. PubMed ID: 9629849
    [Abstract] [Full Text] [Related]

  • 37. [Segawa disease (hereditary progressive dystonia with marked diurnal fluctuation-HPD) and abnormalities in pteridin metabolism].
    Segawa M.
    Rinsho Shinkeigaku; 1996 Dec 18; 36(12):1322-3. PubMed ID: 9128393
    [Abstract] [Full Text] [Related]

  • 38. New nonsense mutation in the GTP-cyclohydrolase I gene in L-DOPA responsive dystonia-parkinsonism.
    Hoenicka J, Vidal L, Godoy M, Ochoa JJ, García de Yébenes J.
    Mov Disord; 2001 Mar 18; 16(2):364-6. PubMed ID: 11295799
    [No Abstract] [Full Text] [Related]

  • 39. A novel missense mutation of the GTP cyclohydrolase I gene in a Korean family with hereditary progressive dystonia/dopa-responsive dystonia.
    Kang JH, Kang SY, Kang HK, Koh YS, Im JH, Lee MC.
    Brain Dev; 2004 Aug 18; 26(5):287-91. PubMed ID: 15165667
    [Abstract] [Full Text] [Related]

  • 40. Autosomal-dominant guanosine triphosphate cyclohydrolase I deficiency with novel mutations.
    Yum MS, Ko TS, Yoo HW, Chung SJ.
    Pediatr Neurol; 2008 May 18; 38(5):367-9. PubMed ID: 18410856
    [Abstract] [Full Text] [Related]

    Page: [Previous] [Next] [New Search]
    of 8.