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.
160 related articles for article (PubMed ID: 30894892)
1. Prenatal Genetic Testing for Dopa-Responsive Dystonia - Clinical Judgment in the Context of Next Generation Sequencing. Nedelea F; Veduta A; Duta S; Vayna AM; Panaitescu A; Peltecu G; Duba HC J Med Life; 2018; 11(4):343-345. PubMed ID: 30894892 [TBL] [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 novel tyrosine hydroxylase variant in a group of Chinese patients with dopa-responsive dystonia. Yan YP; Zhang B; Mao YF; Guo ZY; Tian J; Zhao GH; Pu JL; Luo W; Ouyang ZY; Zhang BR Int J Neurosci; 2017 Aug; 127(8):694-700. PubMed ID: 27619486 [TBL] [Abstract][Full Text] [Related]
10. 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]
11. 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]
12. A novel compound heterozygous TH mutation in a Japanese case of dopa-responsive dystonia with mild clinical course. Kuwabara K; Kawarai T; Ishida Y; Miyamoto R; Oki R; Orlacchio A; Nomura Y; Fukuda M; Ishii E; Shintaku H; Kaji R Parkinsonism Relat Disord; 2018 Jan; 46():87-89. PubMed ID: 29126763 [No Abstract] [Full Text] [Related]
13. Dopa-responsive dystonia caused by tyrosine hydroxylase deficiency: Three cases report and literature review. Dong HY; Feng JY; Yue XJ; Shan L; Jia FY Medicine (Baltimore); 2020 Aug; 99(33):e21753. PubMed ID: 32872068 [TBL] [Abstract][Full Text] [Related]
16. [Tyrosine hydroxylase deficiency: a case of autosomal recessive dopa-responsive dystonia]. Tan D; Zhang Y; Ye J; Han L; Qiu W; Gu X; Zhang H Zhonghua Er Ke Za Zhi; 2014 Aug; 52(8):616-9. PubMed ID: 25224241 [TBL] [Abstract][Full Text] [Related]
17. Molecular diversity of combined and complex dystonia: insights from diagnostic exome sequencing. Zech M; Jech R; Wagner M; Mantel T; Boesch S; Nocker M; Jochim A; Berutti R; Havránková P; Fečíková A; Kemlink D; Roth J; Strom TM; Poewe W; Růžička E; Haslinger B; Winkelmann J Neurogenetics; 2017 Dec; 18(4):195-205. PubMed ID: 28849312 [TBL] [Abstract][Full Text] [Related]
18. A new knock-in mouse model of l-DOPA-responsive dystonia. Rose SJ; Yu XY; Heinzer AK; Harrast P; Fan X; Raike RS; Thompson VB; Pare JF; Weinshenker D; Smith Y; Jinnah HA; Hess EJ Brain; 2015 Oct; 138(Pt 10):2987-3002. PubMed ID: 26220941 [TBL] [Abstract][Full Text] [Related]
20. Compound heterozygous mutations in the TH gene in a Chinese family with autosomal-recessive dopa-responsive dystonia: A case report. Feng B; Sun G; Kong Q; Li Q Medicine (Baltimore); 2018 Nov; 97(44):e12870. PubMed ID: 30383639 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]