BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

273 related articles for article (PubMed ID: 14509665)

  • 1. Update on dopa-responsive dystonia: locus heterogeneity and biochemical features.
    Furukawa Y
    Adv Neurol; 2004; 94():127-38. PubMed ID: 14509665
    [No Abstract]   [Full Text] [Related]  

  • 2. Arg(184)His mutant GTP cyclohydrolase I, causing recessive hyperphenylalaninemia, is responsible for dopa-responsive dystonia with parkinsonism: a case report.
    Kikuchi A; Takeda A; Fujihara K; Kimpara T; Shiga Y; Tanji H; Nagai M; Ichinose H; Urano F; Okamura N; Arai H; Itoyama Y
    Mov Disord; 2004 May; 19(5):590-3. PubMed ID: 15133828
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Is phenotypic variation of hereditary progressive dystonia with marked diurnal fluctuation/dopa-responsive dystonia (HPD/DRD) caused by the difference of the locus of mutation on the GTP cyclohydrolase 1 (GCH-1) gene?
    Segawa M; Nomura Y; Yukishita S; Nishiyama N; Yokochi M
    Adv Neurol; 2004; 94():217-23. PubMed ID: 14509676
    [No Abstract]   [Full Text] [Related]  

  • 4. Dopa-responsive dystonia due to mild tyrosine hydroxylase deficiency.
    Furukawa Y; Kish SJ; Fahn S
    Ann Neurol; 2004 Jan; 55(1):147-8. PubMed ID: 14705130
    [No Abstract]   [Full Text] [Related]  

  • 5. 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]  

  • 6. The effect of GTP cyclohydrolase-1 on tyrosine hydroxylase expression: implications in DOPA-responsive dystonia.
    Kang UJ; Bencsics C; Wachtel S; Lew R
    Adv Neurol; 1998; 78():319-24. PubMed ID: 9750928
    [No Abstract]   [Full Text] [Related]  

  • 7. Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I gene.
    Ichinose H; Ohye T; Takahashi E; Seki N; Hori T; Segawa M; Nomura Y; Endo K; Tanaka H; Tsuji S
    Nat Genet; 1994 Nov; 8(3):236-42. PubMed ID: 7874165
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Dopa-responsive dystonia and early-onset Parkinson's disease in a patient with GTP cyclohydrolase I deficiency?
    Hjermind LE; Johannsen LG; Blau N; Wevers RA; Lucking CB; Hertz JM; Friberg L; Regeur L; Nielsen JE; Sørensen SA
    Mov Disord; 2006 May; 21(5):679-82. PubMed ID: 16267845
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Genetics of primary dystonia.
    Klein C; Breakefield XO; Ozelius LJ
    Semin Neurol; 1999; 19(3):271-80. PubMed ID: 12194383
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Scoliosis in a dopa-responsive dystonia family with a mutation of the GTP cyclohydrolase I gene.
    Furukawa Y; Kish SJ; Lang AE
    Neurology; 2000 Jun; 54(11):2187. PubMed ID: 10851395
    [No Abstract]   [Full Text] [Related]  

  • 11. GTP cyclohydrolase deficiency; intrafamilial variation in clinical phenotype, including levodopa responsiveness.
    Robinson R; McCarthy GT; Bandmann O; Dobbie M; Surtees R; Wood NW
    J Neurol Neurosurg Psychiatry; 1999 Jan; 66(1):86-9. PubMed ID: 9886460
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Early-onset parkinsonism with dystonia. Clinical and biochemical differences from hereditary progressive dystonia or DOPA-responsive dystonia.
    Furukawa Y; Mizuno Y; Narabayashi H
    Adv Neurol; 1996; 69():327-37. PubMed ID: 8615147
    [No Abstract]   [Full Text] [Related]  

  • 13. 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; 40(5):796-8. PubMed ID: 8957022
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Tetrahydrobiopterin metabolism and GTP cyclohydrolase I mutations in L-dopa-responsive dystonia.
    Bezin L; Anastasiadis PZ; Nygaard TG; Levine RA
    Adv Neurol; 1998; 78():291-300. PubMed ID: 9750925
    [No Abstract]   [Full Text] [Related]  

  • 15. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 16. [Molecular biology examinations of dopa-responsive dystonia].
    Romstad A; Güttler F
    Ugeskr Laeger; 1999 May; 161(20):2960. PubMed ID: 10354785
    [No Abstract]   [Full Text] [Related]  

  • 17. [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
    [TBL] [Abstract][Full Text] [Related]  

  • 18. [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]  

  • 19. High penetrance and pronounced variation in expressivity of GCH1 mutations in five families with dopa-responsive dystonia.
    Steinberger D; Weber Y; Korinthenberg R; Deuschl G; Benecke R; Martinius J; Müller U
    Ann Neurol; 1998 May; 43(5):634-9. PubMed ID: 9585358
    [TBL] [Abstract][Full Text] [Related]  

  • 20. A novel mutation in the GTP cyclohydrolase I gene associated with a broad range of clinical presentations in a family with autosomal dominant dopa-responsive dystonia.
    Markova ED; Slominsky PA; Illarioshkin SN; Miklina NI; Popova SN; Limborska SA; Ivanova-Smolenskaya IA
    Eur J Neurol; 1999 Sep; 6(5):605-8. PubMed ID: 10457396
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 14.