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Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

622 related items for PubMed ID: 33713342

  • 1.
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  • 2. 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
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  • 6. 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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  • 7. [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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  • 9. GCH1 heterozygous mutation identified by whole-exome sequencing as a treatable condition in a patient presenting with progressive spastic paraplegia.
    Fan Z, Greenwood R, Felix AC, Shiloh-Malawsky Y, Tennison M, Roche M, Crooks K, Weck K, Wilhelmsen K, Berg J, Evans J.
    J Neurol; 2014 Mar 22; 261(3):622-4. PubMed ID: 24509643
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  • 11. 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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  • 12. 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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  • 14. 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 Jul 22; 51(1):1-6. PubMed ID: 27667361
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  • 15. 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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  • 17. 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 15; 70(16 Pt 2):1377-83. PubMed ID: 17804835
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  • 18. 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 Apr 15; 8(6):e65215. PubMed ID: 23762320
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  • 19. Molecular genetics of dopa-responsive dystonia.
    Ichinose H, Suzuki T, Inagaki H, Ohye T, Nagatsu T.
    Biol Chem; 1999 Dec 15; 380(12):1355-64. PubMed ID: 10661862
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