Functional evidence implicating a novel TOR1A mutation in idiopathic, late-onset focal dystonia. - Wikidata - awgldk - TriplyDB

Functional evidence implicating a novel TOR1A mutation in idiopathic, late-onset focal dystonia.

Functional evidence implicating a novel TOR1A mutation in idiopathic, late-onset focal dystonia.

http://www.wikidata.org/entity/Q33938827

about

Clinical and genetic features of cervical dystonia in a large multicenter cohort Torsins: not your typical AAA+ ATPases Biochemical and cellular analysis of human variants of the DYT1 dystonia protein, TorsinA/TOR1A Current Gaps in the Understanding of the Subcellular Distribution of Exogenous and Endogenous Protein TorsinA.Untethering the nuclear envelope and cytoskeleton: biologically distinct dystonias arising from a common cellular dysfunction Genetic and clinical features of primary torsion dystonia.Dystonia, facial dysmorphism, intellectual disability and breast cancer associated with a chromosome 13q34 duplication and overexpression of TFDP1: case report Inherited isolated dystonia: clinical genetics and gene function.Invertebrate models of dystonia.The genetics of dystonias.Structures of TorsinA and its disease-mutant complexed with an activator reveal the molecular basis for primary dystonia.Genetic variants in diseases of the extrapyramidal system.Molecular pathways in dystonia.Milestones in dystonia.Review: genetics and neuropathology of primary pure dystonia.Genetic issues in the diagnosis of dystonias.The genetics of dystonia: new twists in an old tale.Torsin ATPases: structural insights and functional perspectives.Candidate genes and functional noncoding variants identified in a canine model of obsessive-compulsive disorder.Unraveling cellular phenotypes of novel TorsinA/TOR1A mutations.Combined occurrence of a novel TOR1A and a THAP1 mutation in primary dystonia.Membrane defects and genetic redundancy: Are we at a turning point for DYT1 dystonia?New THAP1 mutation and role of putative modifier in TOR1A.Mouse model of rare TOR1A variant found in sporadic focal dystonia impairs domains affected in DYT1 dystonia patients and animal models Functional Genomic Analyses of Mendelian and Sporadic Disease Identify Impaired eIF2α Signaling as a Generalizable Mechanism for Dystonia.TOR1A variants cause a severe arthrogryposis with developmental delay, strabismus and tremor.A rare variant in TOR1A exon 5 associated with isolated dystonia in southwestern Chinese.

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Functional evidence implicating a novel TOR1A mutation in idiopathic, late-onset focal dystonia.

http://www.wikidata.org/entity/Q33938827

description

2009 nî lūn-bûn

@nan

2009 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած

@hyw

2009 թվականի դեկտեմբերին 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

Functional evidence implicatin ...... ic, late-onset focal dystonia.

@ast

Functional evidence implicatin ...... ic, late-onset focal dystonia.

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type

label

Functional evidence implicatin ...... ic, late-onset focal dystonia.

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Functional evidence implicatin ...... ic, late-onset focal dystonia.

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Functional evidence implicatin ...... ic, late-onset focal dystonia.

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Functional evidence implicatin ...... ic, late-onset focal dystonia.

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JMG.2009.072082

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Journal of Medical Genetics

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Functional evidence implicatin ...... ic, late-onset focal dystonia.

@en

P2093

Danielle Brewington

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David C Steffens

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Gaofeng Wang

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John L Beyer

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Khan-Nhat Tran-Viet

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Melissa Gottron

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Nicole Calakos

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Ranga R Krishnan

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Viren D Patel

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P2860

Mutant torsinA, responsible for early-onset torsion dystonia, forms membrane inclusions in cultured neural cells

Loss of the dystonia-associated protein torsinA selectively disrupts the neuronal nuclear envelope

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

Torsin A and its torsion dystonia-associated mutant forms are lumenal glycoproteins that exhibit distinct subcellular localizations.

The TOR1A polymorphism rs1182 and the risk of spread in primary blepharospasm.

The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein.

Increased risk for recurrent major depression in DYT1 dystonia mutation carriers.

The gene (DYT1) for early-onset torsion dystonia encodes a novel protein related to the Clp protease/heat shock family.

Mislocalization to the nuclear envelope: an effect of the dystonia-causing torsinA mutation.

Intragenic Cis and Trans modification of genetic susceptibility in DYT1 torsion dystonia

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646-650

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scholarly article

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10.1136/JMG.2009.072082

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9

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47

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Stephan Züchner

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2009-12-02T00:00:00Z

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40442699

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19955557

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2891583

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