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 *

206 related articles for article (PubMed ID: 11571350)

  • 1. Atypical presentation of dopa-responsive dystonia: generalized hypotonia and proximal weakness.
    Kong CK; Ko CH; Tong SF; Lam CW
    Neurology; 2001 Sep; 57(6):1121-4. PubMed ID: 11571350
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Dopa-responsive dystonia presenting as delayed and awkward gait.
    Cheyette BN; Cheyette SN; Cusmano-Ozog K; Enns GM
    Pediatr Neurol; 2008 Apr; 38(4):273-5. PubMed ID: 18358407
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Pure hypotonia in a four-year-old patient: An atypical presentation of Dopa-responsive dystonia.
    Eye PG; Horvat D; Wade KT; Hack NK; Dennison DH
    J Neurol Sci; 2019 Aug; 403():125-126. PubMed ID: 31279255
    [No Abstract]   [Full Text] [Related]  

  • 4. 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]  

  • 5. 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]  

  • 6. Child Neurology: A young child with an undiagnosed case of dystonia responsive to l-dopa.
    Trau SP; Gallentine WB; Mikati MA
    Neurology; 2020 Feb; 94(7):326-328. PubMed ID: 32015175
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Recessive GCH1 Deficiency Causing DOPA-Responsive Dystonia Diagnosed by Reported Negative Exome.
    Berger SI; Miller I; Tochen L
    Pediatrics; 2022 Feb; 149(2):. PubMed ID: 35083481
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Frequency of GCH1 deletions in Dopa-responsive dystonia.
    Zirn B; Steinberger D; Troidl C; Brockmann K; von der Hagen M; Feiner C; Henke L; Müller U
    J Neurol Neurosurg Psychiatry; 2008 Feb; 79(2):183-6. PubMed ID: 17898029
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. 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]  

  • 11. A novel mutation in the GTP cyclohydrolase I gene associated with a broad range of clinical presentations in a family with autosomal dominant dopa-responsive dystonia.
    Markova ED; Slominsky PA; Illarioshkin SN; Miklina NI; Popova SN; Limborska SA; Ivanova-Smolenskaya IA
    Eur J Neurol; 1999 Sep; 6(5):605-8. PubMed ID: 10457396
    [TBL] [Abstract][Full Text] [Related]  

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

  • 13. Motor fluctuations and levodopa-induced dyskinesias in dopa-responsive dystonia.
    Bendi VS; Shou J; Joy S; Torres-Russotto D
    Parkinsonism Relat Disord; 2018 May; 50():126-127. PubMed ID: 29467094
    [No Abstract]   [Full Text] [Related]  

  • 14. 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]  

  • 15. 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]  

  • 16. [Dopa-responsive dystonia (Segawa syndrome) with secondary skeleton deformity].
    Budrewicz SP; Góral M; Koszewicz M; Tarantowicz P; Podemski R
    Wiad Lek; 2006; 59(9-10):713-5. PubMed ID: 17338136
    [TBL] [Abstract][Full Text] [Related]  

  • 17. [Levodopa-responsive dystonia: Segawa's disease. Report of a case with late onset].
    Moya-Jiménez MC; Rubí-Callejón J; Fernández-López M; Perea-Rodriguez A; Perea-Rodriguez C; Aparicio-Martinez MJ
    Rev Neurol; 2014 Dec; 59(12):571-2. PubMed ID: 25501456
    [No Abstract]   [Full Text] [Related]  

  • 18. [Dopa-responsive dystonia--a hereditary dystonia easy to treat].
    Farbu E; Bindoff LA
    Tidsskr Nor Laegeforen; 2002 Feb; 122(4):379-81. PubMed ID: 11915666
    [TBL] [Abstract][Full Text] [Related]  

  • 19. A Case of GCH-1 Mutation Dopa-Responsive Dystonia Requiring High Doses of Levodopa for Treatment.
    Bradley M; Lyons S; Coleman S; Vance R; Molloy F; Widdess-Walsh P
    Tremor Other Hyperkinet Mov (N Y); 2021 Jun; 11():23. PubMed ID: 34221698
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Dopa-responsive dystonia.
    Nygaard TG
    Curr Opin Neurol; 1995 Aug; 8(4):310-3. PubMed ID: 7582048
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 11.