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Journal Abstract Search

200 related items for PubMed ID: 23211702

  • 1. Two novel mutations of the GTP cyclohydrolase 1 gene and genotype-phenotype correlation in Chinese Dopa-responsive dystonia patients.
    Yu L, Zhou H, Hu F, Xu Y.
    Eur J Hum Genet; 2013 Jul; 21(7):731-5. PubMed ID: 23211702
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  • 3. GTP cyclohydrolase I and tyrosine hydroxylase gene mutations in familial and sporadic dopa-responsive dystonia patients.
    Cai C, Shi W, Zeng Z, Zhang M, Ling C, Chen L, Cai C, Zhang B, Li WD.
    PLoS One; 2013 Jul; 8(6):e65215. PubMed ID: 23762320
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  • 4. A novel missense mutation in GTP cyclohydrolase I (GCH1) gene causes Dopa-responsive dystonia in Chinese Han population.
    Hu FY, Xu YM, Yu LH, Ma MY, He XH, Zhou D.
    Eur J Neurol; 2011 Feb; 18(2):362-364. PubMed ID: 20491893
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  • 5. Han Chinese patients with dopa-responsive dystonia exhibit a low frequency of exonic deletion in the GCH1 gene.
    Shi WT, Cai CY, Li MS, Ling C, Li WD.
    Genet Mol Res; 2015 Sep 22; 14(3):11185-90. PubMed ID: 26400349
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  • 7. GCH1 mutations are common in Serbian patients with dystonia-parkinsonism: Challenging previously reported prevalence rates of DOPA-responsive dystonia.
    Dobričić V, Tomić A, Branković V, Kresojević N, Janković M, Westenberger A, Rašić VM, Klein C, Novaković I, Svetel M, Kostić VS.
    Parkinsonism Relat Disord; 2017 Dec 22; 45():81-84. PubMed ID: 28958832
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  • 8. 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 15; 25(4):447-51. PubMed ID: 20108370
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  • 10. GCH1 mutations in dopa-responsive dystonia and Parkinson's disease.
    Yoshino H, Nishioka K, Li Y, Oji Y, Oyama G, Hatano T, Machida Y, Shimo Y, Hayashida A, Ikeda A, Mogushi K, Shibagaki Y, Hosaka A, Iwanaga H, Fujitake J, Ohi T, Miyazaki D, Sekijima Y, Oki M, Kusaka H, Fujimoto KI, Ugawa Y, Funayama M, Hattori N.
    J Neurol; 2018 Aug 15; 265(8):1860-1870. PubMed ID: 29948246
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  • 13. Phenocopies in a large GCH1 mutation positive family with dopa responsive dystonia: confusing the picture?
    Grimes DA, Barclay CL, Duff J, Furukawa Y, Lang AE.
    J Neurol Neurosurg Psychiatry; 2002 Jun 15; 72(6):801-4. PubMed ID: 12023430
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  • 14. 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
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  • 15. 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 15; 65():248-251. PubMed ID: 31213404
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  • 16. Novel GCH1 variant in Dopa-responsive dystonia and Parkinson's disease.
    Lewthwaite AJ, Lambert TD, Rolfe EB, Olgiati S, Quadri M, Simons EJ, Morrison KE, Bonifati V, Nicholl DJ.
    Parkinsonism Relat Disord; 2015 Apr 15; 21(4):394-7. PubMed ID: 25634433
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  • 17. [Dopa-responsive dystonia: clinical, genetic, and biochemical studies].
    Furukawa Y.
    Rinsho Shinkeigaku; 2006 Jan 15; 46(1):19-34. PubMed ID: 16541791
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  • 18. Dopa-Responsive Dystonia in Han Chinese Patients: One Novel Heterozygous Mutation in GTP Cyclohydrolase 1 (GCH1) and Three Known Mutations in TH.
    Yang K, Yin R, Lan X, Zhang Y, Cheng H, Wang S, Wang C, Lu Y, Xi J, Lu Q, Huang J, Chen Y.
    Med Sci Monit; 2018 Feb 06; 24():751-757. PubMed ID: 29405179
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