Citations for
1DYT5, GCH1
Transcranial sonography in dopa-responsive dystonia.
Svetel M, Tomić A, Mijajlović M, Dobričić V, Novaković I, Pekmezović T, Brajković L, Kostić VS.
Eur J Neurol 24(1):161-166. doi: 10.1111/ene.13172. 2017
2ADCY5, ANO3, DTPC3, DYT5, FDFM, GCH1
Clinical exome sequencing in early-onset generalized dystonia and large-scale resequencing follow-up.
Zech M, Boesch S, Jochim A, Weber S, Meindl T, Schormair B, Wieland T, Lunetta C, Sansone V, Messner M, Mueller J, Ceballos-Baumann A, Strom TM, Colombo R, Poewe W, Haslinger B, Winkelmann J.
Mov Disord ov Disord. 2016 Sep 26. doi: 10.1002/mds.26808. [Epub ahead of print] 2016
3ADCY5, DYT10, DYT10, DYT8, FDFM, GCH1, PNKD, PRRT2
Paroxysmal movement disorders: An update.
Méneret A, Roze E.
Rev Neurol (Paris) 172(8-9):433-445. doi: 10.1016/j.neurol.2016.07.005. 2016
4GCH1
Cardiomyocyte GTP Cyclohydrolase 1 Protects the Heart Against Diabetic Cardiomyopathy.
Wu HE, Baumgardt SL, Fang J, Paterson M, Liu Y, Du J, Shi Y, Qiao S, Bosnjak ZJ, Warltier DC, Kersten JR, Ge ZD.
Sci Rep 6:27925. doi: 10.1038/srep27925. 2016
5DYT5, GCH1
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 14(3):11185-90. doi: 10.4238/2015.September.22.12. 2015
6GCH1
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 21(4):394-7. doi: 10.1016/j.parkreldis.2015.01.004. 2015
7GCH1
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 137(Pt 9):2480-92. doi: 10.1093/brain/awu179. 2014
8DYT5, GCH1
Two novel mutations of the GTP cyclohydrolase 1 gene and genotype-phenotype correlation in Chinese Dopa-responsive dystonia patients.
Yu L, Zhou H, Hu F, Xu Y.
Eur J Hum Genet 21(7):731-5. doi: 10.1038/ejhg.2012.239. 2013
9GCH1
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 19(12):1156-9. doi: 10.1016/j.parkreldis.2013.08.003. 2013
10GCH1
Common polymorphisms in dystonia-linked genes and susceptibility to the sporadic primary dystonias.
Newman JR, Sutherland GT, Boyle RS, Limberg N, Blum S, O'Sullivan JD, Silburn PA, Mellick GD.
Parkinsonism Relat Disord 18(4):351-7. doi: 10.1016/j.parkreldis.2011.11.024. 2012
11DYT5, GCH1
A new mutation of GCH1 in triplets family with dopa-responsive dystonia.
Tachi N, Takahashi S, Jo M, Shinoda M.
Eur J Neurol 18(9):1191-3. doi: 10.1111/j.1468-1331.2011.03354.x. 2011
12GCH1
A GTP cyclohydrolase 1 genetic variant delays cancer pain.
Lötsch J, Klepstad P, Doehring A, Dale O.
Pain 148(1):103-6. Epub 2009 Dec 2.PMID: 19959292 2010
13DYT5, GCH1
High frequency of multiexonic deletion of the GCH1 gene in a Taiwanese cohort of dopa-response dystonia.
Wu-Chou YH, Yeh TH, Wang CY, Lin JJ, Huang CC, Chang HC, Lai SC, Chen RS, Weng YH, Huang CL, Lu CS.
Am J Med Genet B Neuropsychiatr Genet 153B(4):903-8.PMID: 20082337 2010
14DPDV, DYT5, GCH1, TH
Genotype-phenotype correlates in Taiwanese patients with early-onset recessive parkinsonism.
Lee MJ, Mata IF, Lin CH, Tzen KY, Lincoln SJ, Bounds R, Lockhart PJ, Hulihan MM, Farrer MJ, Wu RM.
Mov Disord 24(1):104-8. 2009
15GCH1
GCH1 in early-onset Parkinson's disease.
Cobb SA, Wider C, Ross OA, Mata IF, Adler CH, Rajput A, Rajput AH, Wu RM, Hauser R, Josephs KA, Carr J, Gwinn K, Heckman MG, Aasly JO, Lynch T, Uitti RJ, Wszolek ZK, Kapatos G, Farrer MJ.
Mov Disord 24(14):2070-5.PMID: 19735094 2009
16GCH1
GCH1 expression in human cerebellum from healthy individuals is not gender dependent.
Wider C, Lincoln S, Dachsel JC, Kapatos G, Heckman MG, Diehl NN, Papapetropoulos S, Mash D, Rajput A, Rajput AH, Dickson DW, Wszolek ZK, Farrer MJ.
Neurosci Lett 462(1):73-5. Epub 2009 Jun 30.PMID: 19573577 2009
17GCH1, GTPCD
Autosomal-dominant guanosine triphosphate cyclohydrolase I deficiency with novel mutations.
Yum MS, Ko TS, Yoo HW, Chung SJ.
Pediatr Neurol 38(5):367-9. 2008
18GCH1, GTPCD
Autosomal recessive GTP cyclohydrolase I deficiency without hyperphenylalaninemia: evidence of a phenotypic continuum between dominant and recessive forms.
Horvath GA, Stockler-Ipsiroglu SG, Salvarinova-Zivkovic R, Lillquist YP, Connolly M, Hyland K, Blau N, Rupar T, Waters PJ.
Mol Genet Metab 94(1):127-31. Epub 2008 Feb 13. 2008
19DYT5, GCH1
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 79(2):183-6. Epub 2007 Sep 26.PMID: 17898029 2008
20DYT5, GCH1
A novel mutation (c.64_65delGGinsAACC [p.G21fsX66]) in the GTP cyclohydrolase 1 gene that causes Segawa disease.
von Mering M, Gabriel H, Opladen T, Hoffmann GF, Storch A.
J Neurol Neurosurg Psychiatry 79(2):229. No abstract available. PMID: 18202219 2008
21GCH1
Interaction of human GTP cyclohydrolase I with its splice variants.
Pandya MJ, Golderer G, Werner ER, Werner-Felmayer G.
Biochem J 400(1):75-80. 2006
22DYT5, GCH1
Novel mutations in the guanosine triphosphate cyclohydrolase 1 gene associated with DYT5 dystonia.
Ohta E, Funayama M, Ichinose H, Toyoshima I, Urano F, Matsuo M, Tomoko N, Yukihiko K, Yoshino S, Yokoyama H, Shimazu H, Maeda K, Hasegawa K, Obata F.
Arch Neurol 63(11):1605-10. 2006
23GCH1
Linkage and candidate gene analysis of 14q22-24 in bipolar disorder: support for GCHI as a novel susceptibility gene.
Kealey C, Roche S, Claffey E, McKeon P.
Am J Med Genet B Neuropsychiatr Genet 136(1):75-80. 2005
24DYT5, GCH1
Autosomal dominant guanosine triphosphate cyclohydrolase I deficiency (Segawa disease).
Segawa M, Nomura Y, Nishiyama N.
Ann Neurol 54 Suppl 6:S32-45. Review. 2003
25DYT5, GCH1
Dopa-responsive dystonia due to a large deletion in the GTP cyclohydrolase I gene.
Furukawa Y, Guttman M, Sparagana SP, Trugman JM, Hyland K, Wyatt P, Lang AE, Rouleau GA, Shimadzu M, Kish SJ.
Ann Neurol 47(4):517-20. 2000
26GCH1
Gene mutation in hereditary progressive dystonia with marked diurnal fluctuation (HPD), strictly defined dopa-responsive dystonia.
Nishiyama N, Yukishita S, Hagiwara H, Kakimoto S, Nomura Y, Segawa M.
Brain Dev 22 Suppl 1:S102-6. 2000
27DYT5, GCH1
GCH1 mutation in a patient with adult-onset oromandibular dystonia.
Steinberger D, et al.
Neurology 52(4):877-9. 1999
28DYT5, GCH1
A new GTP-cyclohydrolase I mutation in an unusual dopa-responsive dystonia, familial form.
Brique S, et al.
Neuroreport 10(3):487-91. 1999
29DYT5, GCH1
Mutant GTP cyclohydrolase I in autosomal dominant dystonia and recessive hyperphenylalaninemia.
Hirano M, et al.
Neurology 52(1):182-4 1999
30DYT5, GCH1
Dopa-responsive dystonia induced by a recessive GTP cyclohydrolase I mutation.
Hwu WL, Wang PJ, Hsiao KJ, Wang TR, Chiou YW, Lee YM.
Hum Genet 105:226-230 1999
31DPDV, DYT5, GCH1, TH
Molecular genetics of dopa-responsive dystonia.
Ichinose H, Suzuki T, Inagaki H, Ohye T, Nagatsu T.
Biol Chem 380(12):1355-64. Review. 1999
32DYT1, GCH1, TOR1A
A novel mutation of the GTP-cyclohydrolase I gene in a patient with hereditary progressive dystonia/dopa-responsive dystonia.
Imaiso Y, Taniwaki T, Yamada T, Yoshimura T, Hirano M, Ueno S, Kaneda N, Kira J.
Neurology 50(2):517-9. 1998
33DYT5, GCH1
Clinical similarities of hereditary progressive/dopa responsive dystonia caused by different types of mutations in the GTP cyclohydrolase I gene.
Tamaru Y, et al.
J Neurol Neurosurg Psychiatry 64 : 469-473. 1998
34DYT5, GCH1
The GTP cyclohydrolase I gene in Russian families with dopa-responsive dystonia.
Illarioshkin SN, et al.
Arch Neurol 55 : 789-792. 1998
35DYT5, GCH1
Dystonia with motor delay in compound heterozygotes for GTP-cyclohydrolase I gene mutations.
Furukawa Y, et al.
Ann Neurol 44 : 10-16. 1998
36DYT5, GCH1
Dominant negative effect of GTP cyclohydrolase I mutations in dopa-responsive hereditary progressive dystonia.
Hirano M, et al.
Ann Neurol 44 : 365-371. 1998
37GCH1
A novel point mutation in the GTP cyclohydrolase I gene in a Spanish family with hereditary progressive and dopa responsive dystonia.
Beyer K, et al.
J Neurol Neurosurg Psychiatry 62 : 420-421. 1997
38GCH1, PTS, PTSD
Mutations in the GTP cyclohydrolase I and 6-pyruvoyl-tetrahydropterin synthase genes.
Thony B, Blau N.
Hum Mutat 10(1):11-20. Review. 1997
39DYT5, GCH1
Dopa-responsive dystonia in British patients : new mutations of the GTP-cyclohydrolase 1 gene and evidence for genetic heterogeneity.
Bandmann O, et al.
Hum Mol Genet 5 : 403-406. 1996
40DYT5, GCH1
GTP-cyclohydrolase I gene mutations in hereditary progressive and dopa-responsive dystonia.
Furukawa Y, et al.
Ann Neurol 39 : 609-617. 1996
41DYT5, GCH1
Mutant GTP cyclohydrolase I mRNA levels contribute to dopa-responsive dystonia onset.
Hirano M, et al.
Ann Neurol 40 : 796-798. 1996
42DYT5, GCH1
Exon skipping caused by a base susbtitution at a splice site in the GTP cyclohydrolase 1 gene in a Japanese family with hereditary progressive dystonia / dopa responsive dystonia.
Hirano M, et al.
Biochem Biophys Res Commun 213 : 645-651. 1995
43GCH1, SPR
Human GTP-cyclohydrolase I gene and sepiapterin reductase gene map to region 14q21-q22 and 2p14-p12, respectively, by in situ hybridization.
Thšny B, et al.
Genomics 26 : 168-170. 1995
44GCH1
Characterization of mouse and human GTP cyclohydrolase I genes.
Ichinose H, et al.
J Biol Chem 270 : 10062-10071. 1995
45GTPCD, GCH1
A missense mutation in a patient with guanosine triphosphate cyclohydrolase I deficiency missed in the newborn screening program.
Blau N, Ichinose H, Nagatsu T, Heizmann CW, Zacchello F, Burlina AB.
J Pediatr 126(3):401-5. 1995
46GTPCD, GCH1
Characterization of mouse and human GTP cyclohydrolase I genes. Mutations in patients with GTP cyclohydrolase I deficiency.
Ichinose H, Ohye T, Matsuda Y, Hori T, Blau N, Burlina A, Rouse B, Matalon R, Fujita K, Nagatsu T.
J Biol Chem 270(17):10062-71. 1995
47GCH1, DYT5
Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I gene.
Ichinose H, et al.
Nat Genet 8 : 236-242. 1994