Association of a missense change in the D2 dopamine receptor with myoclonus dystonia. - Wikidata - wikimedia - TriplyDB

Association of a missense change in the D2 dopamine receptor with myoclonus dystonia.

Association of a missense change in the D2 dopamine receptor with myoclonus dystonia.

http://www.wikidata.org/entity/Q33860047

about

Effect of torsinA on membrane proteins reveals a loss of function and a dominant-negative phenotype of the dystonia-associated DeltaE-torsinA mutant The Association Between Genetic Variants in the Dopaminergic System and Posttraumatic Stress Disorder: A Meta-Analysis Localization of a gene for myoclonus-dystonia to chromosome 7q21-q31 Severe myoclonus-dystonia syndrome associated with a novel epsilon-sarcoglycan gene truncating mutation Myoclonus-dystonia syndrome: epsilon-sarcoglycan mutations and phenotype Epsilon-sarcoglycan mutations found in combination with other dystonia gene mutations Inherited 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 literature Autoantibodies 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.

http://www.wikidata.org/entity/Q33860047

description

1999 nî lūn-bûn

@nan

1999 թուականի Ապրիլին հրատարակուած գիտական յօդուած

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1999 թվականի ապրիլին հրատարակված գիտական հոդված

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1999年の論文

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1999年論文

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1999年論文

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1999年論文

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1999年論文

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1999年論文

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1999年论文

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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.

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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.

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Proceedings of the National Academy of Sciences of the United States of America

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Association of a missense change in the D2 dopamine receptor with myoclonus dystonia.

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P2860

Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I gene

Men homozygous for an inactivating mutation of the follicle-stimulating hormone (FSH) receptor gene present variable suppression of spermatogenesis and fertility

Dopamine receptors: from structure to function

The solution structure of the Leu22-->Val mutant AREA DNA binding domain complexed with a TGATAG core element defines a role for hydrophobic packing in the determination of specificity

Mutation in the alpha-synuclein gene identified in families with Parkinson's disease

Recessively inherited L-DOPA-responsive dystonia caused by a point mutation (Q381K) in the tyrosine hydroxylase gene

A constitutively activating mutation of the luteinizing hormone receptor in familial male precocious puberty

A functional polymorphism in the promoter region of the dopamine D2 receptor gene is associated with schizophrenia

Cloning of the cDNA and gene for a human D2 dopamine receptor

Structure and linkage of the D2 dopamine receptor and neural cell adhesion molecule genes on human chromosome 11q23.

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