Striatal biopterin and tyrosine hydroxylase protein reduction in dopa-responsive dystonia
about
The neurobiology of tetrahydrobiopterin biosynthesis: a model for regulation of GTP cyclohydrolase I gene transcription within nigrostriatal dopamine neuronsDifferential involvement of striosome and matrix dopamine systems in a transgenic model of dopa-responsive dystonia.Partial biopterin deficiency disturbs postnatal development of the dopaminergic system in the brainParkinson's disease in GTP cyclohydrolase 1 mutation carriers.Diagnosis of dystonic syndromes--a new eight-question approach.Severe generalized dystonia due to primary putaminal degeneration: case report and review of the literature.New perspectives on dystonia.The hph-1 mouse: a model for dominantly inherited GTP-cyclohydrolase deficiency.Pediatric neurotransmitter diseases.Expanded motor and psychiatric phenotype in autosomal dominant Segawa syndrome due to GTP cyclohydrolase deficiency.Recent advances in the molecular pathogenesis of dystonia-plus syndromes and heredodegenerative dystonias.Loss of dopamine phenotype among midbrain neurons in Lesch-Nyhan disease.A commentary on the utility of a new L-DOPA-responsive dystonia mouse modelSegawa's disease: dopa-responsive dystonia.Pulmonary hypertension in the newborn GTP cyclohydrolase I-deficient mouseDiagnosing dopamine-responsive dystonias.Dopa-responsive dystonia--clinical and genetic heterogeneity.Brain dopamine neurone 'damage': methamphetamine users vs. Parkinson's disease - a critical assessment of the evidence.Evidence for specific phases in the development of human neuromelanin.Deletion of N-terminus of human tyrosine hydroxylase type 1 enhances stability of the enzyme in AtT-20 cells.Transcranial sonography in dopa-responsive dystonia.A marked contrast between serotonergic and dopaminergic changes in dopa-responsive dystonia.Reply: Parkinson's disease in GTP cyclohydrolase 1 mutation carriers.Catecholamines and serotonin are differently regulated by tetrahydrobiopterin. A study from 6-pyruvoyltetrahydropterin synthase knockout mice.Brain biopterin and tyrosine hydroxylase in asymptomatic dopa-responsive dystonia.Arg(184)His mutant GTP cyclohydrolase I, causing recessive hyperphenylalaninemia, is responsible for dopa-responsive dystonia with parkinsonism: a case report.Amantadine for levodopa-induced choreic dyskinesia in compound heterozygotes for GCH1 mutations.Wide expressivity variation and high but no gender-related penetrance in two dopa-responsive dystonia families with a novel GCH-I mutation.Metabolism of tetrahydrobiopterin: its relevance in monoaminergic neurons and neurological disorders.The metabolic pathology of dopa-responsive dystonia.Genetically rescued tetrahydrobiopterin-depleted mice survive with hyperphenylalaninemia and region-specific monoaminergic abnormalities.Neuropathology of genetic synucleinopathies with parkinsonism: Review of the literature.Neuropsychiatric symptoms and intelligence quotient in autosomal dominant Segawa disease.Genetic and pharmacological correction of aberrant dopamine synthesis using patient iPSCs with BH4 metabolism disorders.Parkinsonism in GTP cyclohydrolase 1-deficient DOPA-responsive dystonia.Parkinsonism without dopamine neuron degeneration in aged l-dopa-responsive dystonia knockin mice.Analysis of plasma biopterin levels in psychiatric disorders suggests a common BH4 deficit in schizophrenia and schizoaffective disorder.
P2860
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P2860
Striatal biopterin and tyrosine hydroxylase protein reduction in dopa-responsive dystonia
description
1999 nî lūn-bûn
@nan
1999 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
1999 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
1999年の論文
@ja
1999年論文
@yue
1999年論文
@zh-hant
1999年論文
@zh-hk
1999年論文
@zh-mo
1999年論文
@zh-tw
1999年论文
@wuu
name
Striatal biopterin and tyrosine hydroxylase protein reduction in dopa-responsive dystonia
@ast
Striatal biopterin and tyrosine hydroxylase protein reduction in dopa-responsive dystonia
@en
Striatal biopterin and tyrosine hydroxylase protein reduction in dopa-responsive dystonia
@nl
type
label
Striatal biopterin and tyrosine hydroxylase protein reduction in dopa-responsive dystonia
@ast
Striatal biopterin and tyrosine hydroxylase protein reduction in dopa-responsive dystonia
@en
Striatal biopterin and tyrosine hydroxylase protein reduction in dopa-responsive dystonia
@nl
prefLabel
Striatal biopterin and tyrosine hydroxylase protein reduction in dopa-responsive dystonia
@ast
Striatal biopterin and tyrosine hydroxylase protein reduction in dopa-responsive dystonia
@en
Striatal biopterin and tyrosine hydroxylase protein reduction in dopa-responsive dystonia
@nl
P2093
P356
P1433
P1476
Striatal biopterin and tyrosine hydroxylase protein reduction in dopa-responsive dystonia
@en
P2093
A H Rajput
J W Haycock
L DiStefano
M Shimadzu
O Hornykiewicz
P304
P356
10.1212/WNL.53.5.1032
P407
P577
1999-09-22T00:00:00Z