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Journal Abstract Search

276 related items for PubMed ID: 27731537

  • 1. Transcranial sonography in dopa-responsive dystonia.
    Svetel M, Tomić A, Mijajlović M, Dobričić V, Novaković I, Pekmezović T, Brajković L, Kostić VS.
    Eur J Neurol; 2017 Jan; 24(1):161-166. PubMed ID: 27731537
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  • 2. 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; 265(8):1860-1870. PubMed ID: 29948246
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  • 4. [Dopa-responsive dystonia: clinical, genetic, and biochemical studies].
    Furukawa Y.
    Rinsho Shinkeigaku; 2006 Jan; 46(1):19-34. PubMed ID: 16541791
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  • 7. Dopa-responsive dystonia or early-onset Parkinson disease - Genotype-phenotype correlation.
    Potulska-Chromik A, Hoffman-Zacharska D, Łukawska M, Kostera-Pruszczyk A.
    Neurol Neurochir Pol; 2017 Jan; 51(1):1-6. PubMed ID: 27667361
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  • 8. 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; 19(12):1156-9. PubMed ID: 24018121
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  • 9. A novel missense mutation of the GTP cyclohydrolase 1 gene in a Taiwanese family with dopa-responsive dystonia: A case report.
    Yang CC, Wang WC, Yeh TH, Chen TH, Liu YL, Lu MK, Lu CS, Tsai CH.
    Clin Neurol Neurosurg; 2018 Feb; 165():21-23. PubMed ID: 29289916
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  • 11. 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, International Parkinson’s Disease Genomics Consortium and UCL-exomes consortium.
    Brain; 2014 Sep; 137(Pt 9):2480-92. PubMed ID: 24993959
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  • 13. Are Dopa-responsive dystonia and Parkinson's disease related disorders? A case report.
    Eggers C, Volk AE, Kahraman D, Fink GR, Leube B, Schmidt M, Timmermann L.
    Parkinsonism Relat Disord; 2012 Jun; 18(5):666-8. PubMed ID: 22030322
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  • 16. 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
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  • 17. 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; 45():81-84. PubMed ID: 28958832
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  • 19. 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; 26(5):287-91. PubMed ID: 15165667
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  • 20. Common and rare GCH1 variants are associated with Parkinson's disease.
    Rudakou U, Ouled Amar Bencheikh B, Ruskey JA, Krohn L, Laurent SB, Spiegelman D, Liong C, Fahn S, Waters C, Monchi O, Fon EA, Dauvilliers Y, Alcalay RN, Dupré N, Gan-Or Z.
    Neurobiol Aging; 2019 Jan; 73():231.e1-231.e6. PubMed ID: 30314816
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