145 related articles for article (PubMed ID: 32018151)
1. Mild dopa-responsive dystonia in heterozygous tyrosine hydroxylase mutation carrier: Evidence of symptomatic enzyme deficiency?
Bally JF; Breen DP; Schaake S; Trinh J; Rakovic A; Klein C; Lang AE
Parkinsonism Relat Disord; 2020 Feb; 71():44-45. PubMed ID: 32018151
[TBL] [Abstract][Full Text] [Related]
2. Mild dopa-responsive dystonia in heterozygous tyrosine hydroxylase mutation carrier: Evidence of symptomatic enzyme deficiency? Response from the authors.
Lang AE; Bally JF; Breen DP; Schaake S; Trinh J; Rakovic A; Klein C
Parkinsonism Relat Disord; 2020 May; 74():80. PubMed ID: 32305180
[No Abstract] [Full Text] [Related]
3. Comment on "Mild dopa-responsive dystonia in heterozygous tyrosine hydroxylase mutation carrier: Evidence of symptomatic enzyme deficiency?".
Furukawa Y; Tomizawa Y
Parkinsonism Relat Disord; 2020 May; 74():81-82. PubMed ID: 32276759
[No Abstract] [Full Text] [Related]
4. 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]
5. 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]
6. 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]
7. 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]
8. Genetics and biochemistry of dopa-responsive dystonia: significance of striatal tyrosine hydroxylase protein loss.
Furukawa Y
Adv Neurol; 2003; 91():401-10. PubMed ID: 12442699
[TBL] [Abstract][Full Text] [Related]
9. [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]
10. Functional studies of tyrosine hydroxylase missense variants reveal distinct patterns of molecular defects in Dopa-responsive dystonia.
Fossbakk A; Kleppe R; Knappskog PM; Martinez A; Haavik J
Hum Mutat; 2014 Jul; 35(7):880-90. PubMed ID: 24753243
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. A novel compound heterozygous tyrosine hydroxylase mutation (p.R441P) with complex phenotype.
Haugarvoll K; Bindoff LA
J Parkinsons Dis; 2011; 1(1):119-22. PubMed ID: 23939262
[TBL] [Abstract][Full Text] [Related]
13. Dopa-Responsive Dystonia in Han Chinese Patients: One Novel Heterozygous Mutation in GTP Cyclohydrolase 1 (GCH1) and Three Known Mutations in TH.
Yang K; Yin R; Lan X; Zhang Y; Cheng H; Wang S; Wang C; Lu Y; Xi J; Lu Q; Huang J; Chen Y
Med Sci Monit; 2018 Feb; 24():751-757. PubMed ID: 29405179
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. [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]
16. Long-term course of L-dopa-responsive dystonia caused by tyrosine hydroxylase deficiency.
Schiller A; Wevers RA; Steenbergen GC; Blau N; Jung HH
Neurology; 2004 Oct; 63(8):1524-6. PubMed ID: 15505183
[TBL] [Abstract][Full Text] [Related]
17. The quaternary structure of human tyrosine hydroxylase: effects of dystonia-associated missense variants on oligomeric state and enzyme activity.
Szigetvari PD; Muruganandam G; Kallio JP; Hallin EI; Fossbakk A; Loris R; Kursula I; Møller LB; Knappskog PM; Kursula P; Haavik J
J Neurochem; 2019 Jan; 148(2):291-306. PubMed ID: 30411798
[TBL] [Abstract][Full Text] [Related]
18. Diagnosing dopamine-responsive dystonias.
Malek N; Fletcher N; Newman E
Pract Neurol; 2015 Oct; 15(5):340-5. PubMed ID: 26045581
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. Differential involvement of striosome and matrix dopamine systems in a transgenic model of dopa-responsive dystonia.
Sato K; Sumi-Ichinose C; Kaji R; Ikemoto K; Nomura T; Nagatsu I; Ichinose H; Ito M; Sako W; Nagahiro S; Graybiel AM; Goto S
Proc Natl Acad Sci U S A; 2008 Aug; 105(34):12551-6. PubMed ID: 18713855
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
