about
THAP proteins target specific DNA sites through bipartite recognition of adjacent major and minor groovesThe THAP-zinc finger protein THAP1 associates with coactivator HCF-1 and O-GlcNAc transferase: a link between DYT6 and DYT3 dystoniasNMR studies of a new family of DNA binding proteins: the THAP proteinsMutations in the autoregulatory domain of β-tubulin 4a cause hereditary dystoniaThe neural substrates of rapid-onset Dystonia-Parkinsonism.Dystonia and Paroxysmal Dyskinesias: Under-Recognized Movement Disorders in Domestic Animals? A Comparison with Human Dystonia/Paroxysmal Dyskinesias.A rat model of hemidystonia induced by 3-nitropropionic acidBiophysical and functional characterization of hippocalcin mutants responsible for human dystonia.Tremulous cervical dystonia is likely to be familial: clinical characteristics of a large cohort.The nuclear envelope localization of DYT1 dystonia torsinA-ΔE requires the SUN1 LINC complex component.Motor deficits and decreased striatal dopamine receptor 2 binding activity in the striatum-specific Dyt1 conditional knockout miceAbnormal nuclear envelope in the cerebellar Purkinje cells and impaired motor learning in DYT11 myoclonus-dystonia mouse modelsAbnormal high-frequency burst firing of cerebellar neurons in rapid-onset dystonia-parkinsonism.Diagnosis of dystonic syndromes--a new eight-question approach.Characterization of Atp1a3 mutant mice as a model of rapid-onset dystonia with parkinsonism.SLC20A2 and THAP1 deletion in familial basal ganglia calcification with dystoniaPre-synaptic release deficits in a DYT1 dystonia mouse model.Identification and localization of a neuron-specific isoform of TAF1 in rat brain: implications for neuropathology of DYT3 dystoniaFixing the broken system of genetic locus symbols: Parkinson disease and dystonia as examples.Improved motor performance in Dyt1 ΔGAG heterozygous knock-in mice by cerebellar Purkinje-cell specific Dyt1 conditional knocking-outMutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions.Alternative approaches to modeling hereditary dystonias.Levodopa is not a useful treatment for Lesch-Nyhan disease.Identifying the genetic components underlying the pathophysiology of movement disorders.Engineering animal models of dystoniaNew roles for the cerebellum in health and disease.Psychiatric comorbidities in dystonia: emerging concepts.A role for cerebellum in the hereditary dystonia DYT1.EFNS guidelines on diagnosis and treatment of primary dystonias.Molecular pathways in dystonia.Dystonic tremor caused by mutation of the glucose transporter gene GLUT1.Milestones in dystonia.Genetic diagnosis of hyperkinetic movement disorders.Diagnostic issues in childhood and adult dystonia.The genetics of dystonia: new twists in an old tale.Parkinsonism and inborn errors of metabolism.X-linked dystonia parkinsonism syndrome (XDP, lubag): disease-specific sequence change DSC3 in TAF1/DYT3 affects genes in vesicular transport and dopamine metabolism.Clinicopathological Phenotype and Genetics of X-Linked Dystonia-Parkinsonism (XDP; DYT3; Lubag)Defining dystonic tremor.Proline-rich Transmembrane Protein 2 Gene Mutation in a Sporadic Paroxysmal Kinesigenic Dyskinesia.
P2860
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P2860
description
2009 nî lūn-bûn
@nan
2009 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
2009 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
2009年の論文
@ja
2009年論文
@yue
2009年論文
@zh-hant
2009年論文
@zh-hk
2009年論文
@zh-mo
2009年論文
@zh-tw
2009年论文
@wuu
name
The monogenic primary dystonias.
@ast
The monogenic primary dystonias.
@en
type
label
The monogenic primary dystonias.
@ast
The monogenic primary dystonias.
@en
prefLabel
The monogenic primary dystonias.
@ast
The monogenic primary dystonias.
@en
P356
P1433
P1476
The monogenic primary dystonias.
@en
P2093
Ulrich Müller
P304
P356
10.1093/BRAIN/AWP172
P407
P577
2009-07-03T00:00:00Z