about
LULL1 retargets TorsinA to the nuclear envelope revealing an activity that is impaired by the DYT1 dystonia mutationA new family with paroxysmal exercise induced dystonia and migraine: a clinical and genetic studyHomozygous mutation of VPS16 gene is responsible for an autosomal recessive adolescent-onset primary dystoniaDevelopmental profile of the aberrant dopamine D2 receptor response in striatal cholinergic interneurons in DYT1 dystoniaContribution of TMS and rTMS in the Understanding of the Pathophysiology and in the Treatment of DystoniaChronic hemidystonia following acute dystonic reaction to thiethylperazineAre movement disorders and sensorimotor injuries pathologic synergies? When normal multi-joint movement synergies become pathologicThalamic post-inhibitory bursting occurs in patients with organic dystonia more often than controlsRole of Gα(olf) in familial and sporadic adult-onset primary dystoniaEarly Controversies over Athetosis: I. Clinical Features, Differentiation from other Movement Disorders, Associated Conditions, and PathologyBiophysical and functional characterization of hippocalcin mutants responsible for human dystonia.Identification of a highly polymorphic microsatellite VNTR within the argininosuccinate synthetase locus: exclusion of the dystonia gene on 9q32-34 as the cause of dopa-responsive dystonia in a large kindred.Deep brain stimulation in childhood: an effective treatment for early onset idiopathic generalised dystonia.Cholinergic mesencephalic neurons are involved in gait and postural disorders in Parkinson diseasePrimary dystonia misinterpreted as Parkinson disease: Video case presentation and practical cluesIn vivo imaging reveals impaired connectivity across cortical and subcortical networks in a mouse model of DYT1 dystonia.High-throughput mutational analysis of TOR1A in primary dystoniaTwo-year outcomes of deep brain stimulation in adults with cerebral palsy.Clustering of dystonia in some pedigrees with autosomal dominant essential tremor suggests the existence of a distinct subtype of essential tremor.Hypothermia-induced dystonia and abnormal cerebellar activity in a mouse model with a single disease-mutation in the sodium-potassium pump.Increased Odds of Melanoma: Parkinson's Disease, Essential Tremor, Dystonia versus ControlsAltered dendritic morphology of Purkinje cells in Dyt1 ΔGAG knock-in and purkinje cell-specific Dyt1 conditional knockout mice.Biochemical and cellular analysis of human variants of the DYT1 dystonia protein, TorsinA/TOR1AAbnormal nuclear envelope in the cerebellar Purkinje cells and impaired motor learning in DYT11 myoclonus-dystonia mouse modelsDeep brain stimulation of globus pallidus internus for DYT1 positive primary generalized dystonia.Alteration of striatal dopaminergic neurotransmission in a mouse model of DYT11 myoclonus-dystonia.Blood harmane (1-methyl-9H-pyrido[3,4-b]indole) concentration in dystonia cases vs. controls.Characterization of Atp1a3 mutant mice as a model of rapid-onset dystonia with parkinsonism.Phenomenology and classification of dystonia: a consensus update.Botulinum toxin injections reduce associative plasticity in patients with primary dystonia.Mutant torsinA interferes with protein processing through the secretory pathway in DYT1 dystonia cells.Untethering the nuclear envelope and cytoskeleton: biologically distinct dystonias arising from a common cellular dysfunctionGenetic and clinical features of primary torsion dystonia.Pre-synaptic release deficits in a DYT1 dystonia mouse model.Abnormal functional connectivity in focal hand dystonia: mutual information analysis in EEG.Static retention of the lumenal monotopic membrane protein torsinA in the endoplasmic reticulum.Behavioral and electrophysiological characterization of Dyt1 heterozygous knockout mice.The DYT1 carrier state increases energy demand in the olivocerebellar network.Mutations in HPCA cause autosomal-recessive primary isolated dystoniaDopamine receptor and Gα(olf) expression in DYT1 dystonia mouse models during postnatal development.
P2860
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P2860
description
1988 nî lūn-bûn
@nan
1988年の論文
@ja
1988年論文
@yue
1988年論文
@zh-hant
1988年論文
@zh-hk
1988年論文
@zh-mo
1988年論文
@zh-tw
1988年论文
@wuu
1988年论文
@zh
1988年论文
@zh-cn
name
Concept and classification of dystonia.
@en
Concept and classification of dystonia.
@nl
type
label
Concept and classification of dystonia.
@en
Concept and classification of dystonia.
@nl
prefLabel
Concept and classification of dystonia.
@en
Concept and classification of dystonia.
@nl
P1476
Concept and classification of dystonia.
@en
P50
P577
1988-01-01T00:00:00Z