Association of a missense change in the D2 dopamine receptor with myoclonus dystonia.
about
Effect of torsinA on membrane proteins reveals a loss of function and a dominant-negative phenotype of the dystonia-associated DeltaE-torsinA mutantThe Association Between Genetic Variants in the Dopaminergic System and Posttraumatic Stress Disorder: A Meta-AnalysisLocalization of a gene for myoclonus-dystonia to chromosome 7q21-q31Severe myoclonus-dystonia syndrome associated with a novel epsilon-sarcoglycan gene truncating mutationMyoclonus-dystonia syndrome: epsilon-sarcoglycan mutations and phenotypeEpsilon-sarcoglycan mutations found in combination with other dystonia gene mutationsInherited Myoclonus-dystonia syndrome: narrowing the 7q21-q31 locus in German families.Inherited myoclonus-dystonia: evidence supporting genetic heterogeneity.Convergent evidence for abnormal striatal synaptic plasticity in dystonia.A major locus for myoclonus-dystonia maps to chromosome 7q in eight families.The DRD2 gene in psychiatric and neurological disorders and its phenotypes.Alteration of striatal dopaminergic neurotransmission in a mouse model of DYT11 myoclonus-dystonia.Antibodies to surface dopamine-2 receptor in autoimmune movement and psychiatric disorders.Genetic variations in human G protein-coupled receptors: implications for drug therapy.Commentary: Dopaminergic dysfunction in DYT1 dystonia.State of the art review: molecular diagnosis of inherited movement disorders. Movement Disorders Society task force on molecular diagnosis.New perspectives on dystonia.Movement disorders and alcohol misuse.Analysis of transmission of novel polymorphisms in the somatostatin receptor 5 (SSTR5) gene in patients with autism.Psychiatric disorders, myoclonus dystonia, and the epsilon-sarcoglycan gene: a systematic review.Autoantibodies in movement and psychiatric disorders: updated concepts in detection methods, pathogenicity, and CNS entry.Genetic Aspects of Myoclonus-Dystonia Syndrome (MDS).Sporadic and familial myoclonic dystonia: Report of three cases and review of literatureAutoantibodies to Synaptic Receptors and Neuronal Cell Surface Proteins in Autoimmune Diseases of the Central Nervous System.Clinical characterization and evaluation of DYT1 gene in Indian primary dystonia patients.Myoclonic Disorders.
P2860
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P2860
Association of a missense change in the D2 dopamine receptor with myoclonus dystonia.
description
1999 nî lūn-bûn
@nan
1999 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
1999 թվականի ապրիլին 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
Association of a missense change in the D2 dopamine receptor with myoclonus dystonia.
@ast
Association of a missense change in the D2 dopamine receptor with myoclonus dystonia.
@en
type
label
Association of a missense change in the D2 dopamine receptor with myoclonus dystonia.
@ast
Association of a missense change in the D2 dopamine receptor with myoclonus dystonia.
@en
prefLabel
Association of a missense change in the D2 dopamine receptor with myoclonus dystonia.
@ast
Association of a missense change in the D2 dopamine receptor with myoclonus dystonia.
@en
P2093
P2860
P356
P1476
Association of a missense change in the D2 dopamine receptor with myoclonus dystonia.
@en
P2093
L J Ozelius
M Sena-Esteves
S Bressman
X O Breakefield
P2860
P304
P356
10.1073/PNAS.96.9.5173
P407
P577
1999-04-01T00:00:00Z