| 1 |
33713342 | GCH1 mutations in hereditary spastic paraplegia. | 2021 Jul |
1 |
| 2 |
33832800 | Monozygotic twins with DYT-TOR1A showing jerking movements and levodopa responsiveness. | 2021 Aug |
1 |
| 3 |
33962918 | Older-onset levodopa-responsive parkinsonism with normal DAT-SPECT and pterin hypometabolism. | 2021 May 7 |
1 |
| 4 |
34221698 | A Case of GCH-1 Mutation Dopa-Responsive Dystonia Requiring High Doses of Levodopa for Treatment. | 2021 Jun 24 |
2 |
| 5 |
34394914 | Case Report: Guitarist's cramp as the initial manifestation of dopa-responsive dystonia with a novel heterozygous GCH1 mutation. | 2021 |
1 |
| 6 |
34992971 | Recognizing Atypical Dopa-Responsive Dystonia and Its Mimics. | 2021 Dec |
4 |
| 7 |
32278297 | Autosomal dominant GCH1 mutations causing spastic paraplegia at disease onset. | 2020 May |
1 |
| 8 |
31213404 | Residual signs of dopa-responsive dystonia with GCH1 mutation following levodopa treatment are uncommon in Korean patients. | 2019 Aug |
2 |
| 9 |
27731537 | Transcranial sonography in dopa-responsive dystonia. | 2017 Jan |
1 |
| 10 |
25592335 | Controlled Striatal DOPA Production From a Gene Delivery System in a Rodent Model of Parkinson's Disease. | 2015 May |
2 |
| 11 |
24614670 | Unusual case of levodopa-responsive camptocormia in a patient with negative dopamine transporter scan and normal DYT 5 gene. | 2014 Mar-Apr |
1 |
| 12 |
24993959 | Parkinson's disease in GTP cyclohydrolase 1 mutation carriers. | 2014 Sep |
1 |
| 13 |
22068827 | Guanine triphosphate-cyclohydrolase 1-deficient dopa-responsive dystonia presenting as frequent falling in 2 children. | 2012 Mar |
1 |
| 14 |
22166420 | Overview of primary monogenic dystonia. | 2012 Jan |
3 |
| 15 |
19566901 | Novel non-sense GCH1 mutation in a South African family diagnosed with dopa-responsive dystonia. | 2010 Mar |
1 |
| 16 |
19332422 | Autosomal-dominant GTPCH1-deficient DRD: clinical characteristics and long-term outcome of 34 patients. | 2009 Aug |
1 |
| 17 |
17898029 | Frequency of GCH1 deletions in Dopa-responsive dystonia. | 2008 Feb |
1 |
| 18 |
17430130 | Restoration of the striatal dopamine synthesis for Parkinson's disease: viral vector-mediated enzyme replacement strategy. | 2007 Apr |
1 |
| 19 |
15959854 | A new deletion in autosomal dominant guanosine triphosphate cyclohydrolase I deficiency gene--Segawa disease. | 2006 Feb |
1 |
| 20 |
15389992 | Amantadine for levodopa-induced choreic dyskinesia in compound heterozygotes for GCH1 mutations. | 2004 Oct |
2 |
| 21 |
12707079 | Dopa-responsive dystonia and Tourette syndrome in a large Danish family. | 2003 Apr |
1 |
| 22 |
11917105 | Reversal of motor impairments in parkinsonian rats by continuous intrastriatal delivery of L-dopa using rAAV-mediated gene transfer. | 2002 Apr 2 |
1 |
| 23 |
11295799 | New nonsense mutation in the GTP-cyclohydrolase I gene in L-DOPA responsive dystonia-parkinsonism. | 2001 Mar |
1 |
| 24 |
11346370 | Neurologic and psychiatric manifestations in a family with a mutation in exon 2 of the guanosine triphosphate-cyclohydrolase gene. | 2001 May |
1 |
| 25 |
10825351 | Levodopa-responsive dystonia. GTP cyclohydrolase I or parkin mutations? | 2000 Jun |
1 |
| 26 |
11113234 | Dopa-responsive dystonia: mutation analysis of GCH1 and analysis of therapeutic doses of L-dopa. German Dystonia Study Group. | 2000 Dec 12 |
1 |
| 27 |
9592104 | Characterization of intrastriatal recombinant adeno-associated virus-mediated gene transfer of human tyrosine hydroxylase and human GTP-cyclohydrolase I in a rat model of Parkinson's disease. | 1998 Jun 1 |
1 |
| 28 |
9628761 | In vivo L-DOPA production by genetically modified primary rat fibroblast or 9L gliosarcoma cell grafts via coexpression of GTPcyclohydrolase I with tyrosine hydroxylase. | 1998 Jun |
1 |
| 29 |
9667588 | Dystonia with motor delay in compound heterozygotes for GTP-cyclohydrolase I gene mutations. | 1998 Jul |
2 |
| 30 |
9750925 | Tetrahydrobiopterin metabolism and GTP cyclohydrolase I mutations in L-dopa-responsive dystonia. | 1998 |
1 |