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.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

135 related articles for article (PubMed ID: 10732814)

  • 1. Two previously unrecognized splicing mutations of GCH1 in Dopa-responsive dystonia: exon skipping and one base insertion.
    Weber Y; Steinberger D; Deuschl G; Benecke R; Müller U
    Neurogenetics; 1997 Sep; 1(2):125-7. PubMed ID: 10732814
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Exon skipping caused by a base substitution at a splice site in the GTP cyclohydrolase I gene in a Japanese family with hereditary progressive dystonia dopa responsive dystonia.
    Hirano M; Tamaru Y; Nagai Y; Ito H; Imai T; Ueno S
    Biochem Biophys Res Commun; 1995 Aug; 213(2):645-51. PubMed ID: 7544125
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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]  

  • 4. GCH1 mutation and clinical study of Chinese patients with dopa-responsive dystonia.
    Liu X; Zhang SS; Fang DF; Ma MY; Guo XY; Yang Y; Shang HF
    Mov Disord; 2010 Mar; 25(4):447-51. PubMed ID: 20108370
    [TBL] [Abstract][Full Text] [Related]  

  • 5. A splice mutation in the GTP cyclohydrolase I gene causes dopa-responsive dystonia by exon skipping.
    Skrygan M; Bartholomé B; Bonafé L; Blau N; Bartholomé K
    J Inherit Metab Dis; 2001 Jun; 24(3):345-51. PubMed ID: 11486899
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 7. A novel nonsense mutation of the GTP cyclohydrolase I gene in a family with dopa-responsive dystonia.
    Hong KM; Kim YS; Paik MK
    Hum Hered; 2001; 52(1):59-60. PubMed ID: 11359069
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Frequency of GCH1 deletions in Dopa-responsive dystonia.
    Zirn B; Steinberger D; Troidl C; Brockmann K; von der Hagen M; Feiner C; Henke L; Müller U
    J Neurol Neurosurg Psychiatry; 2008 Feb; 79(2):183-6. PubMed ID: 17898029
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Gender-related penetrance and de novo GTP-cyclohydrolase I gene mutations in dopa-responsive dystonia.
    Furukawa Y; Lang AE; Trugman JM; Bird TD; Hunter A; Sadeh M; Tagawa T; St George-Hyslop PH; Guttman M; Morris LW; Hornykiewicz O; Shimadzu M; Kish SJ
    Neurology; 1998 Apr; 50(4):1015-20. PubMed ID: 9566388
    [TBL] [Abstract][Full Text] [Related]  

  • 10. [Mutation analysis of GCH1 gene in Chinese patients with dopa responsive dystonia].
    Li J; Tang BS; Guo JF; Zhang YH; Xie ZG; Yan XX; Shen L; Jiang H; Zhang XW; Xia K; Pan Q
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2007 Jun; 24(3):302-4. PubMed ID: 17557242
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. Differential splicing of the GTP cyclohydrolase I RNA in dopa-responsive dystonia.
    Hirano M; Imaiso Y; Ueno S
    Biochem Biophys Res Commun; 1997 May; 234(2):316-9. PubMed ID: 9177267
    [TBL] [Abstract][Full Text] [Related]  

  • 13. A new mutation of GCH1 in triplets family with dopa-responsive dystonia.
    Tachi N; Takahashi S; Jo M; Shinoda M
    Eur J Neurol; 2011 Sep; 18(9):1191-3. PubMed ID: 21834904
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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; 16(2):364-6. PubMed ID: 11295799
    [No Abstract]   [Full Text] [Related]  

  • 16. Familial hypercholesterolemia. Acceptor splice site (G-->C) mutation in intron 7 of the LDL-R gene: alternate RNA editing causes exon 8 skipping or a premature stop codon in exon 8. LDL-R(Honduras-1) [LDL-R1061(-1) G-->C].
    Yu L; Heere-Ress E; Boucher B; Defesche JC; Kastelein J; Lavoie MA; Genest J
    Atherosclerosis; 1999 Sep; 146(1):125-31. PubMed ID: 10487495
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

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

  • 19. Dopa-responsive dystonia in British patients: new mutations of the GTP-cyclohydrolase I gene and evidence for genetic heterogeneity.
    Bandmann O; Nygaard TG; Surtees R; Marsden CD; Wood NW; Harding AE
    Hum Mol Genet; 1996 Mar; 5(3):403-6. PubMed ID: 8852666
    [TBL] [Abstract][Full Text] [Related]  

  • 20. A novel missense mutation pattern of the GCH1 gene in dopa-responsive dystonia.
    Scola RH; Carducci C; Amaral VG; Lorenzoni PJ; Teive HA; Giovanniello T; Werneck LC
    Arq Neuropsiquiatr; 2007 Dec; 65(4B):1224-7. PubMed ID: 18345435
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.