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Items: 1 to 20 of 192

1.

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. doi: 10.1007/s00415-018-8930-8. Epub 2018 Jun 14.

PMID:
29948246
2.

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. doi: 10.1016/j.parkreldis.2017.09.017. Epub 2017 Sep 18.

PMID:
28958832
3.

GCH1 plays a role in the high-altitude adaptation of Tibetans.

Guo YB, He YX, Cui CY, Ouzhu L, Baima K, Duoji Z, Deji Q, Bian B, Peng Y, Bai CJ, Gongga L, Pan YY, Qu, Kang M, Ciren Y, Baima Y, Guo W, Yang, Zhang H, Zhang XM, Zheng WS, Xu SH, Chen H, Zhao SG, Cai Y, Liu SM, Wu TY, Qi XB, Su B.

Zool Res. 2017 May 18;38(3):155-162. doi: 10.24272/j.issn.2095-8137.2017.037.

4.

[Analysis of clinical phenotype and CGH1 gene mutations in a family affected with dopa-responsive dystonia].

Yan Y, Chen X, Luo W.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2017 Apr 10;34(2):205-208. doi: 10.3760/cma.j.issn.1003-9406.2017.02.011. Chinese.

PMID:
28397219
5.

Aging modifies the effect of GCH1 RS11158026 on DAT uptake and Parkinson's disease clinical severity.

Webb J, Willette AA.

Neurobiol Aging. 2017 Feb;50:39-46. doi: 10.1016/j.neurobiolaging.2016.10.006. Epub 2016 Oct 13.

6.

Han Chinese patients with dopa-responsive dystonia exhibit a low frequency of exonic deletion in the GCH1 gene.

Shi WT, Cai CY, Li MS, Ling C, Li WD.

Genet Mol Res. 2015 Sep 22;14(3):11185-90. doi: 10.4238/2015.September.22.12.

7.

Depressed mood, anxiety, and the use of labor analgesia.

Pettersson FD, Hellgren C, Nyberg F, Åkerud H, Sundström-Poromaa I.

Arch Womens Ment Health. 2016 Feb;19(1):11-6. doi: 10.1007/s00737-015-0572-6. Epub 2015 Sep 21.

PMID:
26392364
8.

Nucleotide Variants of the BH4 Biosynthesis Pathway Gene GCH1 and the Risk of Orofacial Clefts.

Hozyasz KK, Mostowska A, Wójcicki P, Lasota A, Zadurska M, Dunin-Wilczyńska I, Jagodziński PP.

Mol Neurobiol. 2016 Jan;53(1):769-776. doi: 10.1007/s12035-015-9342-8. Epub 2015 Jul 28.

9.

Novel GCH1 variant in Dopa-responsive dystonia and Parkinson's disease.

Lewthwaite AJ, Lambert TD, Rolfe EB, Olgiati S, Quadri M, Simons EJ, Morrison KE, Bonifati V, Nicholl DJ.

Parkinsonism Relat Disord. 2015 Apr;21(4):394-7. doi: 10.1016/j.parkreldis.2015.01.004. Epub 2015 Jan 14.

10.

GTP cyclohydrolase I gene polymorphisms are associated with endothelial dysfunction and oxidative stress in patients with type 2 diabetes mellitus.

Wolkow PP, Kosiniak-Kamysz W, Osmenda G, Wilk G, Bujak-Gizycka B, Ignacak A, Kanitkar M, Walus-Miarka M, Harrison DG, Korbut R, Malecki MT, Guzik TJ.

PLoS One. 2014 Nov 4;9(11):e108587. doi: 10.1371/journal.pone.0108587. eCollection 2014.

11.

Changes in gene expression and methylation in the blood of patients with first-episode psychosis.

Ota VK, Noto C, Gadelha A, Santoro ML, Spindola LM, Gouvea ES, Stilhano RS, Ortiz BB, Silva PN, Sato JR, Han SW, Cordeiro Q, Bressan RA, Belangero SI.

Schizophr Res. 2014 Nov;159(2-3):358-64. doi: 10.1016/j.schres.2014.09.008. Epub 2014 Sep 28.

PMID:
25270546
12.

[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. doi: 10.3760/cma.j.issn.1003-9406.2014.04.002. Chinese.

PMID:
25119902
13.

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; International Parkinson’s Disease Genomics Consortium and UCL-exomes consortium.

Brain. 2014 Sep;137(Pt 9):2480-92. doi: 10.1093/brain/awu179. Epub 2014 Jul 2.

14.

Lack of reproducibility in re-evaluating associations between GCH1 polymorphisms and Parkinson's disease and isolated dystonia in an Australian case--control group.

Newman JR, Todorovic M, Silburn PA, Sutherland GT, Mellick GD.

Parkinsonism Relat Disord. 2014 Jun;20(6):668-70. doi: 10.1016/j.parkreldis.2014.02.014. Epub 2014 Mar 12. No abstract available.

PMID:
24674769
15.

A functional polymorphism of the GTP cyclohydrolase 1 gene predicts attention performance.

Yasuda Y, Hashimoto R, Ohi K, Yamamori H, Fujimoto M, Umeda-Yano S, Fujino H, Fukunaga M, Horiguchi M, Takeda M, Ichinose H.

Neurosci Lett. 2014 Apr 30;566:46-9. doi: 10.1016/j.neulet.2014.02.019. Epub 2014 Feb 20.

PMID:
24561090
16.

Elevated levels of plasma phenylalanine in schizophrenia: a guanosine triphosphate cyclohydrolase-1 metabolic pathway abnormality?

Okusaga O, Muravitskaja O, Fuchs D, Ashraf A, Hinman S, Giegling I, Hartmann AM, Konte B, Friedl M, Schiffman J, Hong E, Reeves G, Groer M, Dantzer R, Rujescu D, Postolache TT.

PLoS One. 2014 Jan 21;9(1):e85945. doi: 10.1371/journal.pone.0085945. eCollection 2014.

17.

A GCH1 haplotype confers sex-specific susceptibility to pain crises and altered endothelial function in adults with sickle cell anemia.

Belfer I, Youngblood V, Darbari DS, Wang Z, Diaw L, Freeman L, Desai K, Dizon M, Allen D, Cunnington C, Channon KM, Milton J, Hartley SW, Nolan V, Kato GJ, Steinberg MH, Goldman D, Taylor JG 6th.

Am J Hematol. 2014 Feb;89(2):187-93. doi: 10.1002/ajh.23613.

18.

Dopa-responsive dystonia: functional analysis of single nucleotide substitutions within the 5' untranslated GCH1 region.

Armata IA, Balaj L, Kuster JK, Zhang X, Tsai S, Armatas AA, Multhaupt-Buell TJ, Soberman R, Breakefield XO, Ichinose H, Sharma N.

PLoS One. 2013 Oct 4;8(10):e76975. doi: 10.1371/journal.pone.0076975. eCollection 2013. Erratum in: PLoS One. 2013;8(10). doi:10.1371/annotation/4ace7171-c9d7-490b-a7d6-b49be4094281.

19.

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. doi: 10.1016/j.parkreldis.2013.08.003. Epub 2013 Sep 7.

PMID:
24018121
20.

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