A point mutation in the tyrosine hydroxylase gene associated with Segawa's syndrome
about
Identification of a locus on chromosome 14q for idiopathic basal ganglia calcification (Fahr disease).The Solution Structure of the Regulatory Domain of Tyrosine HydroxylaseA murine model for human sepiapterin-reductase deficiencyGenetic diagnosis of two dopa-responsive dystonia families by exome sequencingSpectroscopy and kinetics of wild-type and mutant tyrosine hydroxylase: mechanistic insight into O2 activationImprovement of the Rett syndrome phenotype in a MeCP2 mouse model upon treatment with levodopa and a dopa-decarboxylase inhibitorTyrosine hydroxylase gene: another piece of the genetic puzzle of Parkinson's diseaseClinical spectrum of dopa-responsive dystonia and related disordersGTP cyclohydrolase I and tyrosine hydroxylase gene mutations in familial and sporadic dopa-responsive dystonia patients.Biogenic amines in Rett syndrome: the usual suspects.State of the art review: molecular diagnosis of inherited movement disorders. Movement Disorders Society task force on molecular diagnosis.Effects of mutations in tyrosine hydroxylase associated with progressive dystonia on the activity and stability of the protein.Incidental medical information in whole-exome sequencing.Clinical similarities of hereditary progressive/dopa responsive dystonia caused by different types of mutations in the GTP cyclohydrolase I gene.Invertebrate models of dystonia.A commentary on the utility of a new L-DOPA-responsive dystonia mouse modelThe genetics of dystonias.Recent advances in the genetics of dystonia.The interval between Ins2 and Ascl2 is dispensable for imprinting centre function in the murine Beckwith-Wiedemann region.Pulsed EPR study of amino acid and tetrahydropterin binding in a tyrosine hydroxylase nitric oxide complex: evidence for substrate rearrangements in the formation of the oxygen-reactive complex.Primary dystonia: molecules and mechanisms.Milestones in dystonia.Genetics of Cerebellar and Neocortical Expansion in Anthropoid Primates: A Comparative Approach.Nomenclature of genetic movement disorders: Recommendations of the international Parkinson and movement disorder society task force.Understanding dystonia: diagnostic issues and how to overcome them.Using the shared genetics of dystonia and ataxia to unravel their pathogenesis.Genetically rescued tetrahydrobiopterin-depleted mice survive with hyperphenylalaninemia and region-specific monoaminergic abnormalities.An unusual presentation of tyrosine hydroxylase deficiency.Dopamine transporter density measured by [123I]beta-CIT single-photon emission computed tomography is normal in dopa-responsive dystonia.
P2860
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P2860
A point mutation in the tyrosine hydroxylase gene associated with Segawa's syndrome
description
1995 nî lūn-bûn
@nan
1995 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
1995 թվականի հունվարին հրատարակված գիտական հոդված
@hy
1995年の論文
@ja
1995年学术文章
@wuu
1995年学术文章
@zh-cn
1995年学术文章
@zh-hans
1995年学术文章
@zh-my
1995年学术文章
@zh-sg
1995年學術文章
@yue
name
A point mutation in the tyrosine hydroxylase gene associated with Segawa's syndrome
@ast
A point mutation in the tyrosine hydroxylase gene associated with Segawa's syndrome
@en
A point mutation in the tyrosine hydroxylase gene associated with Segawa's syndrome
@nl
type
label
A point mutation in the tyrosine hydroxylase gene associated with Segawa's syndrome
@ast
A point mutation in the tyrosine hydroxylase gene associated with Segawa's syndrome
@en
A point mutation in the tyrosine hydroxylase gene associated with Segawa's syndrome
@nl
prefLabel
A point mutation in the tyrosine hydroxylase gene associated with Segawa's syndrome
@ast
A point mutation in the tyrosine hydroxylase gene associated with Segawa's syndrome
@en
A point mutation in the tyrosine hydroxylase gene associated with Segawa's syndrome
@nl
P2093
P356
P1433
P1476
A point mutation in the tyrosine hydroxylase gene associated with Segawa's syndrome
@en
P2093
B Dworniczak
K Bartholomé
P2888
P356
10.1007/BF00225091
P407
P577
1995-01-01T00:00:00Z
P6179
1052846539