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Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

221 related items for PubMed ID: 30911941

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    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Furukawa Y.
    ; 1993. PubMed ID: 20301681
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  • 4. Dopa-responsive dystonia in Chinese patients: Including a novel heterozygous mutation in the GCH1 gene with an intermediate phenotype and one case of prenatal diagnosis.
    Zhang W, Zhou Z, Li X, Huang Y, Li T, Lin Y, Shao Y, Hu H, Liu H, Liu L.
    Neurosci Lett; 2017 Mar 22; 644():48-54. PubMed ID: 28087438
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  • 5. 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 22; 265(8):1860-1870. PubMed ID: 29948246
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  • 6. 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 22; 165():21-23. PubMed ID: 29289916
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  • 7. 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, French Dystonia Network.
    Brain; 2009 Jul 22; 132(Pt 7):1753-63. PubMed ID: 19491146
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  • 8. 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 22; 26(9):1244-6. PubMed ID: 21935284
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  • 9. [Dopa-responsive dystonia: clinical, genetic, and biochemical studies].
    Furukawa Y.
    Rinsho Shinkeigaku; 2006 Jan 22; 46(1):19-34. PubMed ID: 16541791
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  • 10. Reduced lymphoblast neopterin detects GTP cyclohydrolase dysfunction in dopa-responsive dystonia.
    Bezin L, Nygaard TG, Neville JD, Shen H, Levine RA.
    Neurology; 1998 Apr 22; 50(4):1021-7. PubMed ID: 9566389
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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 22; 137(Pt 9):2480-92. PubMed ID: 24993959
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  • 12. 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 Sep 22; 51(1):1-6. PubMed ID: 27667361
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  • 19. 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 22; 65():248-251. PubMed ID: 31213404
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  • 20. 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 22; 21(4):394-7. PubMed ID: 25634433
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