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Journal Abstract Search

145 related items for PubMed ID: 36204308

  • 1. Case Report: Severe Hypotonia Without Hyperphenylalaninemia Caused by a Homozygous GCH1 Variant: A Case Report and Literature Review.
    Chen Y, Liu K, Yang Z, Wang Y, Zhou H.
    Front Genet; 2022; 13():929069. PubMed ID: 36204308
    [Abstract] [Full Text] [Related]

  • 2.
    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Furukawa Y.
    ; 1993. PubMed ID: 20301681
    [Abstract] [Full Text] [Related]

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

  • 4. 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]

  • 5. 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
    [Abstract] [Full Text] [Related]

  • 6. [Dopa-responsive dystonia].
    Furukawa Y.
    Rinsho Shinkeigaku; 2006 Nov; 46(11):769-73. PubMed ID: 17432176
    [Abstract] [Full Text] [Related]

  • 7. Clinical and biochemical characterization of patients with early infantile onset of autosomal recessive GTP cyclohydrolase I deficiency without hyperphenylalaninemia.
    Opladen T, Hoffmann G, Hörster F, Hinz AB, Neidhardt K, Klein C, Wolf N.
    Mov Disord; 2011 Jan; 26(1):157-61. PubMed ID: 20818608
    [Abstract] [Full Text] [Related]

  • 8. Autosomal Recessive Guanosine Triphosphate Cyclohydrolase I Deficiency: Redefining the Phenotypic Spectrum and Outcomes.
    Novelli M, Tolve M, Quiroz V, Carducci C, Bove R, Ricciardi G, Yang K, Manti F, Pisani F, Ebrahimi-Fakhari D, Galosi S, Leuzzi V.
    Mov Disord Clin Pract; 2024 Sep; 11(9):1072-1084. PubMed ID: 39001623
    [Abstract] [Full Text] [Related]

  • 9. 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
    [Abstract] [Full Text] [Related]

  • 10. A Compound Heterozygote for GCH1 Mutation Represents a Case of Atypical Dopa-Responsive Dystonia.
    Giri S, Naiya T, Roy S, Das G, Wali GM, Das SK, Ray K, Ray J.
    J Mol Neurosci; 2019 Jun 22; 68(2):214-220. PubMed ID: 30911941
    [Abstract] [Full Text] [Related]

  • 11. Relationship of Genotype, Phenotype, and Treatment in Dopa-Responsive Dystonia: MDSGene Review.
    Weissbach A, Pauly MG, Herzog R, Hahn L, Halmans S, Hamami F, Bolte C, Camargos S, Jeon B, Kurian MA, Opladen T, Brüggemann N, Huppertz HJ, König IR, Klein C, Lohmann K.
    Mov Disord; 2022 Feb 22; 37(2):237-252. PubMed ID: 34908184
    [Abstract] [Full Text] [Related]

  • 12. 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 22; 74():12-15. PubMed ID: 32278297
    [Abstract] [Full Text] [Related]

  • 13. Autosomal-dominant GTPCH1-deficient DRD: clinical characteristics and long-term outcome of 34 patients.
    Trender-Gerhard I, Sweeney MG, Schwingenschuh P, Mir P, Edwards MJ, Gerhard A, Polke JM, Hanna MG, Davis MB, Wood NW, Bhatia KP.
    J Neurol Neurosurg Psychiatry; 2009 Aug 22; 80(8):839-45. PubMed ID: 19332422
    [Abstract] [Full Text] [Related]

  • 14. Case Report: Guitarist's cramp as the initial manifestation of dopa-responsive dystonia with a novel heterozygous GCH1 mutation.
    Hasegawa T, Hosaka T, Harada R, Kawahata I, Hoshino K, Sugeno N, Kikuchi A, Aoki M.
    F1000Res; 2021 Aug 22; 10():361. PubMed ID: 34394914
    [Abstract] [Full Text] [Related]

  • 15. [Clinical and genetic characteristics of children with dopa-responsive dystonia caused by tyrosine hydroxylase gene variations].
    Zhang GY, Cai ZJ, Zhang XL, Yang L, Li YZ, Wei LK, Zhang YP, Chang PP, Zhu DN.
    Zhonghua Er Ke Za Zhi; 2023 Apr 02; 61(4):339-344. PubMed ID: 37011980
    [Abstract] [Full Text] [Related]

  • 16. Neuropsychiatric and sleep study in autosomal dominant dopa-responsive dystonia.
    Alves Júnior AC, Daker MV, Machado AMC, Luna AS, Valladares Neto DC, Valadares ER.
    Mol Genet Metab Rep; 2022 Jun 02; 31():100870. PubMed ID: 35782624
    [Abstract] [Full Text] [Related]

  • 17. Reduced lymphoblast neopterin detects GTP cyclohydrolase dysfunction in dopa-responsive dystonia.
    Bezin L, Nygaard TG, Neville JD, Shen H, Levine RA.
    Neurology; 1998 Apr 02; 50(4):1021-7. PubMed ID: 9566389
    [Abstract] [Full Text] [Related]

  • 18. 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 02; 45():81-84. PubMed ID: 28958832
    [Abstract] [Full Text] [Related]

  • 19. 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 02; 265(8):1860-1870. PubMed ID: 29948246
    [Abstract] [Full Text] [Related]

  • 20. GCH1 mutations in hereditary spastic paraplegia.
    Varghaei P, Yoon G, Estiar MA, Veyron S, Leveille E, Dupré N, Trempe JF, Rouleau GA, Gan-Or Z.
    Clin Genet; 2021 Jul 02; 100(1):51-58. PubMed ID: 33713342
    [Abstract] [Full Text] [Related]

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