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Journal Abstract Search

192 related items for PubMed ID: 15747353

  • 1. Levodopa-responsive infantile parkinsonism due to a novel mutation in the tyrosine hydroxylase gene and exacerbation by viral infections.
    Diepold K, Schütz B, Rostasy K, Wilken B, Hougaard P, Güttler F, Romstad A, Birk Møller L.
    Mov Disord; 2005 Jun; 20(6):764-7. PubMed ID: 15747353
    [Abstract] [Full Text] [Related]

  • 2. Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis.
    Willemsen MA, Verbeek MM, Kamsteeg EJ, de Rijk-van Andel JF, Aeby A, Blau N, Burlina A, Donati MA, Geurtz B, Grattan-Smith PJ, Haeussler M, Hoffmann GF, Jung H, de Klerk JB, van der Knaap MS, Kok F, Leuzzi V, de Lonlay P, Megarbane A, Monaghan H, Renier WO, Rondot P, Ryan MM, Seeger J, Smeitink JA, Steenbergen-Spanjers GC, Wassmer E, Weschke B, Wijburg FA, Wilcken B, Zafeiriou DI, Wevers RA.
    Brain; 2010 Jun; 133(Pt 6):1810-22. PubMed ID: 20430833
    [Abstract] [Full Text] [Related]

  • 3. Molecular genetics of dopa-responsive dystonia.
    Ichinose H, Suzuki T, Inagaki H, Ohye T, Nagatsu T.
    Biol Chem; 1999 Dec; 380(12):1355-64. PubMed ID: 10661862
    [Abstract] [Full Text] [Related]

  • 4. Expanding phenotype and clinical analysis of tyrosine hydroxylase deficiency.
    Yeung WL, Wong VC, Chan KY, Hui J, Fung CW, Yau E, Ko CH, Lam CW, Mak CM, Siu S, Low L.
    J Child Neurol; 2011 Feb; 26(2):179-87. PubMed ID: 20823027
    [Abstract] [Full Text] [Related]

  • 5. Tyrosine hydroxylase deficiency presenting with a biphasic clinical course.
    Giovanniello T, Leuzzi V, Carducci C, Carducci C, Sabato ML, Artiola C, Santagata S, Pozzessere S, Antonozzi I.
    Neuropediatrics; 2007 Aug; 38(4):213-5. PubMed ID: 18058633
    [Abstract] [Full Text] [Related]

  • 6. Tyrosine hydroxylase deficiency causes progressive encephalopathy and dopa-nonresponsive dystonia.
    Hoffmann GF, Assmann B, Bräutigam C, Dionisi-Vici C, Häussler M, de Klerk JB, Naumann M, Steenbergen-Spanjers GC, Strassburg HM, Wevers RA.
    Ann Neurol; 2003 Aug; 54 Suppl 6():S56-65. PubMed ID: 12891655
    [Abstract] [Full Text] [Related]

  • 7. Infantile hypokinetic-hypotonic syndrome due to two novel mutations of the tyrosine hydroxylase gene.
    Doummar D, Clot F, Vidailhet M, Afenjar A, Durr A, Brice A, Mignot C, Guet A, de Villemeur TB, Rodriguez D.
    Mov Disord; 2009 Apr 30; 24(6):943-5. PubMed ID: 19224593
    [No Abstract] [Full Text] [Related]

  • 8. Cerebrospinal fluid homovanillic acid levels in rapid-onset dystonia-parkinsonism.
    Brashear A, Butler IJ, Hyland K, Farlow MR, Dobyns WB.
    Ann Neurol; 1998 Apr 30; 43(4):521-6. PubMed ID: 9546335
    [Abstract] [Full Text] [Related]

  • 9. Sepiapterin reductase deficiency an autosomal recessive DOPA-responsive dystonia.
    Abeling NG, Duran M, Bakker HD, Stroomer L, Thöny B, Blau N, Booij J, Poll-The BT.
    Mol Genet Metab; 2006 Apr 30; 89(1-2):116-20. PubMed ID: 16650784
    [Abstract] [Full Text] [Related]

  • 10. Tyrosine hydroxylase deficiency in three Greek patients with a common ancestral mutation.
    Pons R, Serrano M, Ormazabal A, Toma C, Garcia-Cazorla A, Area E, Ribasés M, Kanavakis E, Drakaki K, Giannakopoulos A, Orfanou I, Youroukos S, Cormand B, Artuch R.
    Mov Disord; 2010 Jun 15; 25(8):1086-90. PubMed ID: 20198643
    [Abstract] [Full Text] [Related]

  • 11. Segawa's disease: dopa-responsive dystonia.
    Gordon N.
    Int J Clin Pract; 2008 Jun 15; 62(6):943-6. PubMed ID: 17971156
    [Abstract] [Full Text] [Related]

  • 12. Deletion in the tyrosine hydroxylase gene in a patient with a mild phenotype.
    Ormazabal A, Serrano M, Garcia-Cazorla A, Campistol J, Artuch R, Castro de Castro P, Barredo-Valderrama E, Armstrong J, Toma C, Cormand B.
    Mov Disord; 2011 Jul 15; 26(8):1558-60. PubMed ID: 21465550
    [No Abstract] [Full Text] [Related]

  • 13. [Dopa-responsive dystonia: clinical, genetic, and biochemical studies].
    Furukawa Y.
    Rinsho Shinkeigaku; 2006 Jan 15; 46(1):19-34. PubMed ID: 16541791
    [Abstract] [Full Text] [Related]

  • 14. Mutations in the cyclic adenosine monophosphate response element of the tyrosine hydroxylase gene.
    Verbeek MM, Steenbergen-Spanjers GC, Willemsen MA, Hol FA, Smeitink J, Seeger J, Grattan-Smith P, Ryan MM, Hoffmann GF, Donati MA, Blau N, Wevers RA.
    Ann Neurol; 2007 Oct 15; 62(4):422-6. PubMed ID: 17696123
    [Abstract] [Full Text] [Related]

  • 15. SCA2 may present as levodopa-responsive parkinsonism.
    Payami H, Nutt J, Gancher S, Bird T, McNeal MG, Seltzer WK, Hussey J, Lockhart P, Gwinn-Hardy K, Singleton AA, Singleton AB, Hardy J, Farrer M.
    Mov Disord; 2003 Apr 15; 18(4):425-9. PubMed ID: 12671950
    [Abstract] [Full Text] [Related]

  • 16. Kufor Rakeb disease: autosomal recessive, levodopa-responsive parkinsonism with pyramidal degeneration, supranuclear gaze palsy, and dementia.
    Williams DR, Hadeed A, al-Din AS, Wreikat AL, Lees AJ.
    Mov Disord; 2005 Oct 15; 20(10):1264-71. PubMed ID: 15986421
    [Abstract] [Full Text] [Related]

  • 17. Brain biopterin and tyrosine hydroxylase in asymptomatic dopa-responsive dystonia.
    Furukawa Y, Kapatos G, Haycock JW, Worsley J, Wong H, Kish SJ, Nygaard TG.
    Ann Neurol; 2002 May 15; 51(5):637-41. PubMed ID: 12112113
    [Abstract] [Full Text] [Related]

  • 18. Brain catecholamine depletion and motor impairment in a Th knock-in mouse with type B tyrosine hydroxylase deficiency.
    Korner G, Noain D, Ying M, Hole M, Flydal MI, Scherer T, Allegri G, Rassi A, Fingerhut R, Becu-Villalobos D, Pillai S, Wueest S, Konrad D, Lauber-Biason A, Baumann CR, Bindoff LA, Martinez A, Thöny B.
    Brain; 2015 Oct 15; 138(Pt 10):2948-63. PubMed ID: 26276013
    [Abstract] [Full Text] [Related]

  • 19. Four novel mutations in the tyrosine hydroxylase gene in patients with infantile parkinsonism.
    Swaans RJ, Rondot P, Renier WO, Van Den Heuvel LP, Steenbergen-Spanjers GC, Wevers RA.
    Ann Hum Genet; 2000 Jan 15; 64(Pt 1):25-31. PubMed ID: 11246459
    [Abstract] [Full Text] [Related]

  • 20. L-dopa-responsive infantile hypokinetic rigid parkinsonism due to tyrosine hydroxylase deficiency.
    de Rijk-Van Andel JF, Gabreëls FJ, Geurtz B, Steenbergen-Spanjers GC, van Den Heuvel LP, Smeitink JA, Wevers RA.
    Neurology; 2000 Dec 26; 55(12):1926-8. PubMed ID: 11134401
    [Abstract] [Full Text] [Related]

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