Condition: Dopa-Responsive Dystonia


rs104894433 in GCH1 gene and Dopa-Responsive Dystonia PMID 7874165 1994 Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I gene.

PMID 10825351 2000 Levodopa-responsive dystonia. GTP cyclohydrolase I or parkin mutations?

PMID 10582612 1999 Characterization of wild-type and mutants of recombinant human GTP cyclohydrolase I: relationship to etiology of dopa-responsive dystonia.

PMID 9120469 1997 A novel point mutation in the GTP cyclohydrolase I gene in a Spanish family with hereditary progressive and dopa responsive dystonia.

PMID 8957022 1996 Mutant GTP cyclohydrolase I mRNA levels contribute to dopa-responsive dystonia onset.

PMID 17101830 2006 Novel mutations in the guanosine triphosphate cyclohydrolase 1 gene associated with DYT5 dystonia.

PMID 10076897 1999 A novel missense mutant inactivates GTP cyclohydrolase I in dopa-responsive dystonia.

PMID 9778264 1998 Dopa-responsive dystonia: a clinical and molecular genetic study.

PMID 8852666 1996 Dopa-responsive dystonia in British patients: new mutations of the GTP-cyclohydrolase I gene and evidence for genetic heterogeneity.

PMID 7501255 1995 GTP cyclohydrolase I gene in hereditary progressive dystonia with marked diurnal fluctuation.

PMID 10208576 1999 A new GTP-cyclohydrolase I mutation in an unusual dopa-responsive dystonia, familial form.

PMID 10987649 1999 Dopa-responsive dystonia induced by a recessive GTP cyclohydrolase I mutation.

PMID 20482602 2011 EFNS guidelines on diagnosis and treatment of primary dystonias.

PMID 11113234 2000 Dopa-responsive dystonia: mutation analysis of GCH1 and analysis of therapeutic doses of L-dopa. German Dystonia Study Group.

PMID 9328244 1997 GTP cyclohydrolase I mutations in patients with dystonia responsive to anticholinergic drugs.

PMID 12391354 2002 Autosomal dominant GTP-CH deficiency presenting as a dopa-responsive myoclonus-dystonia syndrome.

PMID 17898029 2008 Frequency of GCH1 deletions in Dopa-responsive dystonia.

PMID 16917893 2006 Mutations in the BH4-metabolizing genes GTP cyclohydrolase I, 6-pyruvoyl-tetrahydropterin synthase, sepiapterin reductase, carbinolamine-4a-dehydratase, and dihydropteridine reductase.

PMID 9667588 1998 Dystonia with motor delay in compound heterozygotes for GTP-cyclohydrolase I gene mutations.

PMID 15753436 2005 High mutation rate in dopa-responsive dystonia: detection with comprehensive GCHI screening.

PMID 15303002 2004 GTP-cyclohydrolase I gene mutations in patients with autosomal dominant and recessive GTP-CH1 deficiency: identification and functional characterization of four novel mutations.

PMID 20842687 2011 Severe dystonic encephalopathy without hyperphenylalaninemia associated with an 18-bp deletion within the proximal GCH1 promoter.

PMID 10496263 1999 Striatal biopterin and tyrosine hydroxylase protein reduction in dopa-responsive dystonia.

PMID 9749603 1998 Dominant negative effect of GTP cyclohydrolase I mutations in dopa-responsive hereditary progressive dystonia.

PMID 19491146 2009 Exhaustive analysis of BH4 and dopamine biosynthesis genes in patients with Dopa-responsive dystonia.

PMID 8619546 1996 GTP-cyclohydrolase I gene mutations in hereditary progressive amd dopa-responsive dystonia.

PMID 10457396 1999 A novel mutation in the GTP cyclohydrolase I gene associated with a broad range of clinical presentations in a family with autosomal dominant dopa-responsive dystonia.

PMID 20082337 2010 High frequency of multiexonic deletion of the GCH1 gene in a Taiwanese cohort of dopa-response dystonia.

PMID 19332422 2009 Autosomal-dominant GTPCH1-deficient DRD: clinical characteristics and long-term outcome of 34 patients.

PMID 20108370 2010 GCH1 mutation and clinical study of Chinese patients with dopa-responsive dystonia.

PMID 20491893 2011 A novel missense mutation in GTP cyclohydrolase I (GCH1) gene causes Dopa-responsive dystonia in Chinese Han population.

PMID 10984670 2000 Missense mutants inactivate guanosine triphosphate cyclohydrolase I in hereditary progressive dystonia.

PMID 23211702 2013 Two novel mutations of the GTP cyclohydrolase 1 gene and genotype-phenotype correlation in Chinese Dopa-responsive dystonia patients.

PMID 11486899 2001 A splice mutation in the GTP cyclohydrolase I gene causes dopa-responsive dystonia by exon skipping.