134 related articles for article (PubMed ID: 38497520)
1. An Inversion Affecting the GCH1 Gene as a Novel Finding in Dopa-Responsive Dystonia.
El-Wahsh S; Fellner A; Hobbs M; Copty J; Deveson I; Stevanovski I; Stoll M; Zhu D; Narayanan RK; Grosz B; Worgan L; Cheong PL; Yeow D; Rudaks L; Hasan MM; Hayes VM; Kennerson M; Kumar KR; Hayes M
Mov Disord Clin Pract; 2024 May; 11(5):582-585. PubMed ID: 38497520
[No Abstract] [Full Text] [Related]
2. 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]
3. 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]
4. 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]
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
[TBL] [Abstract][Full Text] [Related]
6. Serum prolactin in symptomatic and asymptomatic dopa-responsive dystonia due to a GCH1 mutation.
Furukawa Y; Guttman M; Wong H; Farrell SA; Furtado S; Kish SJ
Neurology; 2003 Jul; 61(2):269-70. PubMed ID: 12874420
[No Abstract] [Full Text] [Related]
7. 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]
8. 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]
9. Guanine triphosphate-cyclohydrolase 1-deficient dopa-responsive dystonia presenting as frequent falling in 2 children.
Tsao CY
J Child Neurol; 2012 Mar; 27(3):389-91. PubMed ID: 22068827
[TBL] [Abstract][Full Text] [Related]
10. A novel missense mutation in GTP cyclohydrolase I (GCH1) gene causes Dopa-responsive dystonia in Chinese Han population.
Hu FY; Xu YM; Yu LH; Ma MY; He XH; Zhou D
Eur J Neurol; 2011 Feb; 18(2):362-364. PubMed ID: 20491893
[TBL] [Abstract][Full Text] [Related]
11. A novel missense mutation in GCH1 gene in a Korean family with Segawa disease.
Kim JI; Choi JK; Lee JW; Kim J; Ki CS; Hong JY
Brain Dev; 2015 Mar; 37(3):359-61. PubMed ID: 24948553
[TBL] [Abstract][Full Text] [Related]
12. Parkinson's disease in GTP cyclohydrolase 1 mutation carriers.
Mencacci NE; Isaias IU; Reich MM; Ganos C; Plagnol V; Polke JM; Bras J; Hersheson J; Stamelou M; Pittman AM; Noyce AJ; Mok KY; Opladen T; Kunstmann E; Hodecker S; Münchau A; Volkmann J; Samnick S; Sidle K; Nanji T; Sweeney MG; Houlden H; Batla A; Zecchinelli AL; Pezzoli G; Marotta G; Lees A; Alegria P; Krack P; Cormier-Dequaire F; Lesage S; Brice A; Heutink P; Gasser T; Lubbe SJ; Morris HR; Taba P; Koks S; Majounie E; Raphael Gibbs J; Singleton A; Hardy J; Klebe S; Bhatia KP; Wood NW;
Brain; 2014 Sep; 137(Pt 9):2480-92. PubMed ID: 24993959
[TBL] [Abstract][Full Text] [Related]
13. [A novel mutation in GCH1 gene causes dopa-responsive dystonia].
Wu W; Han C; Hao Y; Xie J; Xu Z; Geng Q
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2014 Aug; 31(4):420-3. PubMed ID: 25119902
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. Brain structural alterations in patients with
Kostić VS; Agosta F; Tomic A; Sarasso E; Kresojevic N; Basaia S; Svetel M; Copetti M; Filippi M
J Neurol Neurosurg Psychiatry; 2021 Mar; 92(3):332-333. PubMed ID: 33087420
[No Abstract] [Full Text] [Related]
16. 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]
17. 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; 45():81-84. PubMed ID: 28958832
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. 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]
20. 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]
[Next] [New Search]