|
Dopa-Responsive Dystonia
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Novel mutations in the guanosine triphosphate cyclohydrolase 1 gene associated with DYT5 dystonia.
|
17101830 |
2006 |
|
Dopa-Responsive Dystonia
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Autosomal dominant GTP-CH deficiency presenting as a dopa-responsive myoclonus-dystonia syndrome.
|
12391354 |
2002 |
|
Dopa-Responsive Dystonia
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Dopa-responsive dystonia: mutation analysis of GCH1 and analysis of therapeutic doses of L-dopa. German Dystonia Study Group.
|
11113234 |
2000 |
|
Dopa-Responsive Dystonia
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Levodopa-responsive dystonia. GTP cyclohydrolase I or parkin mutations?
|
10825351 |
2000 |
|
Dopa-Responsive Dystonia
|
|
0.700 |
GeneticVariation
|
UNIPROT |
A novel missense mutant inactivates GTP cyclohydrolase I in dopa-responsive dystonia.
|
10076897 |
1999 |
|
Dopa-Responsive Dystonia
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Characterization of wild-type and mutants of recombinant human GTP cyclohydrolase I: relationship to etiology of dopa-responsive dystonia.
|
10582612 |
1999 |
|
Dopa-Responsive Dystonia
|
|
0.700 |
GeneticVariation
|
UNIPROT |
A new GTP-cyclohydrolase I mutation in an unusual dopa-responsive dystonia, familial form.
|
10208576 |
1999 |
|
Dopa-Responsive Dystonia
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Dopa-responsive dystonia induced by a recessive GTP cyclohydrolase I mutation.
|
10987649 |
1999 |
|
Dopa-Responsive Dystonia
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Dopa-responsive dystonia: a clinical and molecular genetic study.
|
9778264 |
1998 |
|
Dopa-Responsive Dystonia
|
|
0.700 |
GeneticVariation
|
UNIPROT |
A novel point mutation in the GTP cyclohydrolase I gene in a Spanish family with hereditary progressive and dopa responsive dystonia.
|
9120469 |
1997 |
|
Dopa-Responsive Dystonia
|
|
0.700 |
GeneticVariation
|
UNIPROT |
GTP cyclohydrolase I mutations in patients with dystonia responsive to anticholinergic drugs.
|
9328244 |
1997 |
|
Dopa-Responsive Dystonia
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Mutant GTP cyclohydrolase I mRNA levels contribute to dopa-responsive dystonia onset.
|
8957022 |
1996 |
|
Dopa-Responsive Dystonia
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Dopa-responsive dystonia in British patients: new mutations of the GTP-cyclohydrolase I gene and evidence for genetic heterogeneity.
|
8852666 |
1996 |
|
Dopa-Responsive Dystonia
|
|
0.700 |
GeneticVariation
|
UNIPROT |
GTP cyclohydrolase I gene in hereditary progressive dystonia with marked diurnal fluctuation.
|
7501255 |
1995 |
|
Dopa-Responsive Dystonia
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I gene.
|
7874165 |
1994 |
|
Dystonia Disorders
|
|
0.010 |
GeneticVariation
|
BEFREE |
We found a recessive GTPCH mutation (R249S, 747C-->G in a dystonia patient.
|
10987649 |
1999 |
|
Dystonia
|
|
0.010 |
GeneticVariation
|
BEFREE |
We found a recessive GTPCH mutation (R249S, 747C-->G in a dystonia patient.
|
10987649 |
1999 |