These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

183 related articles for article (PubMed ID: 34394914)

  • 1. 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; 10():361. PubMed ID: 34394914
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 4. A case of late-onset Segawa syndrome (autosomal dominant dopa-responsive dystonia) with a novel mutation of the GTP-cyclohydrase I (GCH1) gene.
    Furuya H; Murai H; Takasugi K; Ohyagi Y; Urano F; Kishi T; Ichinose H; Kira J
    Clin Neurol Neurosurg; 2006 Dec; 108(8):784-6. PubMed ID: 16289769
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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; 68(2):214-220. PubMed ID: 30911941
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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; 8(6):e65215. PubMed ID: 23762320
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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; 51(1):1-6. PubMed ID: 27667361
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Atypical presentation of dopa-responsive dystonia in Taiwan.
    Weng YC; Wang CC; Wu YR
    Brain Behav; 2018 Feb; 8(2):e00906. PubMed ID: 29484265
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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; 644():48-54. PubMed ID: 28087438
    [TBL] [Abstract][Full Text] [Related]  

  • 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; 65():248-251. PubMed ID: 31213404
    [TBL] [Abstract][Full Text] [Related]  

  • 12. A new mutation of GCH1 in triplets family with dopa-responsive dystonia.
    Tachi N; Takahashi S; Jo M; Shinoda M
    Eur J Neurol; 2011 Sep; 18(9):1191-3. PubMed ID: 21834904
    [TBL] [Abstract][Full Text] [Related]  

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

  • 14. 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; 80(8):839-45. PubMed ID: 19332422
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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;
    Brain; 2009 Jul; 132(Pt 7):1753-63. PubMed ID: 19491146
    [TBL] [Abstract][Full Text] [Related]  

  • 16.
    Bouhouche A; Tamaoui L; Birouk N
    Pan Afr Med J; 2024; 47():159. PubMed ID: 38974698
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Growth hormone deficiency in a dopa-responsive dystonia patient with a novel mutation of guanosine triphosphate cyclohydrolase 1 gene.
    Lin Y; Wang DN; Chen WJ; Lin X; Lin MT; Wang N
    J Child Neurol; 2015 May; 30(6):796-9. PubMed ID: 24939974
    [TBL] [Abstract][Full Text] [Related]  

  • 19. GCH1 mutation and clinical study of Chinese patients with dopa-responsive dystonia.
    Liu X; Zhang SS; Fang DF; Ma MY; Guo XY; Yang Y; Shang HF
    Mov Disord; 2010 Mar; 25(4):447-51. PubMed ID: 20108370
    [TBL] [Abstract][Full Text] [Related]  

  • 20.
    ; ; . PubMed ID:
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 10.