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 *

140 related articles for article (PubMed ID: 20491893)

  • 21. [A novel mutation in GCH1 gene causes dopa-responsive dystonia].
    Wu W; Han C; Hao Y; Xie J; Xu Z; Geng Q
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2014 Aug; 31(4):420-3. PubMed ID: 25119902
    [TBL] [Abstract][Full Text] [Related]  

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

  • 23. Four novel mutations in the GCH1 gene of Chinese patients with dopa-responsive dystonia.
    Cao L; Zheng L; Tang WG; Xiao Q; Zhang T; Tang HD; He SB; Wang XJ; Ding JQ; Chen SD
    Mov Disord; 2010 Apr; 25(6):755-60. PubMed ID: 20437540
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Mutation in intron 5 of GTP cyclohydrolase 1 gene causes dopa-responsive dystonia (Segawa syndrome) in a Brazilian family.
    Souza CP; Valadares ER; Trindade AL; Rocha VL; Oliveira LR; Godard AL
    Genet Mol Res; 2008 Aug; 7(3):687-94. PubMed ID: 18752196
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Dopa-responsive dystonia with a novel initiation codon mutation in the GCH1 gene misdiagnosed as cerebral palsy.
    Lee JH; Ki CS; Kim DS; Cho JW; Park KP; Kim S
    J Korean Med Sci; 2011 Sep; 26(9):1244-6. PubMed ID: 21935284
    [TBL] [Abstract][Full Text] [Related]  

  • 26. 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]  

  • 27. Predisposition of genetic disease by modestly decreased expression of GCH1 mutant allele.
    Kim YS; Choi YB; Lee JH; Yang SH; Cho JH; Shin CH; Lee SD; Paik MK; Hong KM
    Exp Mol Med; 2008 Jun; 40(3):271-5. PubMed ID: 18587264
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Residual signs of dopa-responsive dystonia with GCH1 mutation following levodopa treatment are uncommon in Korean patients.
    Ahn TB; Chung SJ; Koh SB; Park HY; Cho JW; Lee JH; Hong JY; Kwon DY; Shin C; Lee JY; Lee WW; Jeon B
    Parkinsonism Relat Disord; 2019 Aug; 65():248-251. PubMed ID: 31213404
    [TBL] [Abstract][Full Text] [Related]  

  • 29. 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;
    Brain; 2009 Jul; 132(Pt 7):1753-63. PubMed ID: 19491146
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Parkinson's disease in GTP cyclohydrolase 1 mutation carriers.
    Mencacci NE; Isaias IU; Reich MM; Ganos C; Plagnol V; Polke JM; Bras J; Hersheson J; Stamelou M; Pittman AM; Noyce AJ; Mok KY; Opladen T; Kunstmann E; Hodecker S; Münchau A; Volkmann J; Samnick S; Sidle K; Nanji T; Sweeney MG; Houlden H; Batla A; Zecchinelli AL; Pezzoli G; Marotta G; Lees A; Alegria P; Krack P; Cormier-Dequaire F; Lesage S; Brice A; Heutink P; Gasser T; Lubbe SJ; Morris HR; Taba P; Koks S; Majounie E; Raphael Gibbs J; Singleton A; Hardy J; Klebe S; Bhatia KP; Wood NW;
    Brain; 2014 Sep; 137(Pt 9):2480-92. PubMed ID: 24993959
    [TBL] [Abstract][Full Text] [Related]  

  • 31.
    Bouhouche A; Tamaoui L; Birouk N
    Pan Afr Med J; 2024; 47():159. PubMed ID: 38974698
    [TBL] [Abstract][Full Text] [Related]  

  • 32. 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]  

  • 33. Reduced lymphoblast neopterin detects GTP cyclohydrolase dysfunction in dopa-responsive dystonia.
    Bezin L; Nygaard TG; Neville JD; Shen H; Levine RA
    Neurology; 1998 Apr; 50(4):1021-7. PubMed ID: 9566389
    [TBL] [Abstract][Full Text] [Related]  

  • 34. A novel missense mutation in GCH1 gene in a Korean family with Segawa disease.
    Kim JI; Choi JK; Lee JW; Kim J; Ki CS; Hong JY
    Brain Dev; 2015 Mar; 37(3):359-61. PubMed ID: 24948553
    [TBL] [Abstract][Full Text] [Related]  

  • 35. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Mutations of GCH1 in Dopa-responsive dystonia.
    Müller U; Steinberger D; Topka H
    J Neural Transm (Vienna); 2002 Mar; 109(3):321-8. PubMed ID: 11956954
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Autosomal dominant GCH1 mutations causing spastic paraplegia at disease onset.
    Wassenberg T; Schouten MI; Helmich RC; Willemsen MAAP; Kamsteeg EJ; van de Warrenburg BPC
    Parkinsonism Relat Disord; 2020 May; 74():12-15. PubMed ID: 32278297
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Serum prolactin in symptomatic and asymptomatic dopa-responsive dystonia due to a GCH1 mutation.
    Furukawa Y; Guttman M; Wong H; Farrell SA; Furtado S; Kish SJ
    Neurology; 2003 Jul; 61(2):269-70. PubMed ID: 12874420
    [No Abstract]   [Full Text] [Related]  

  • 39. Novel human pathological mutations. Gene symbol: GCH1. Disease: dystonia, dopa-responsive.
    Hu F; Xu Y; Zhou D; He X; Yu L
    Hum Genet; 2010 Apr; 127(4):482. PubMed ID: 21488304
    [No Abstract]   [Full Text] [Related]  

  • 40. Study of a Swiss dopa-responsive dystonia family with a deletion in GCH1: redefining DYT14 as DYT5.
    Wider C; Melquist S; Hauf M; Solida A; Cobb SA; Kachergus JM; Gass J; Coon KD; Baker M; Cannon A; Stephan DA; Schorderet DF; Ghika J; Burkhard PR; Kapatos G; Hutton M; Farrer MJ; Wszolek ZK; Vingerhoets FJ
    Neurology; 2008 Apr; 70(16 Pt 2):1377-83. PubMed ID: 17804835
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 7.