Intragenic Cis and Trans modification of genetic susceptibility in DYT1 torsion dystonia
about
The early-onset torsion dystonia-associated protein, torsinA, displays molecular chaperone activity in vitroCerebellothalamocortical connectivity regulates penetrance in dystoniaThe non-motor syndrome of primary dystonia: clinical and pathophysiological implicationsGenetic background modulates the phenotype of a mouse model of DYT1 dystoniaNovel 9q34.11 gene deletions encompassing combinations of four Mendelian disease genes: STXBP1, SPTAN1, ENG, and TOR1A.Genetics of dystonia: what's known? What's new? What's next?Abnormal structure-function relationships in hereditary dystonia.Chemical enhancement of torsinA function in cell and animal models of torsion dystonia.The BiP molecular chaperone plays multiple roles during the biogenesis of torsinA, an AAA+ ATPase associated with the neurological disease early-onset torsion dystonia.Functional evidence implicating a novel TOR1A mutation in idiopathic, late-onset focal dystonia.Biochemical and cellular analysis of human variants of the DYT1 dystonia protein, TorsinA/TOR1AThe early-onset torsion dystonia-associated protein, torsinA, is a homeostatic regulator of endoplasmic reticulum stress response.Functional brain networks and abnormal connectivity in the movement disorders.DYT1 knock-in mice are not sensitized against mitochondrial complex-II inhibition.PET Neuroimaging: Insights on Dystonia and Tourette Syndrome and Potential ApplicationsUntethering the nuclear envelope and cytoskeleton: biologically distinct dystonias arising from a common cellular dysfunctionHereditary dystonia as a neurodevelopmental circuit disorder: Evidence from neuroimaging.Genetic and clinical features of primary torsion dystonia.Genetic evidence for an association of the TOR1A locus with segmental/focal dystonia.A generalizable hypothesis for the genetic architecture of disease: pleomorphic risk lociInherited isolated dystonia: clinical genetics and gene function.The pathogenic human Torsin A in Drosophila activates the unfolded protein response and increases susceptibility to oxidative stress.A predictable worm: application of Caenorhabditis elegans for mechanistic investigation of movement disorders.The Role of TOR1A Polymorphisms in Dystonia: A Systematic Review and Meta-AnalysisInvertebrate models of dystonia.The genetics of dystonias.Susceptibility genes in movement disorders.Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease.Understanding the anatomy of dystonia: determinants of penetrance and phenotype.What is the role of genetic testing in movement disorders practice?Milestones in dystonia.The genetics of dystonia: new twists in an old tale.Membrane defects and genetic redundancy: Are we at a turning point for DYT1 dystonia?Unmet Needs in Dystonia: Genetics and Molecular Biology-How Many Dystonias?Consequences of the DYT1 mutation on torsinA oligomerization and degradation.New THAP1 mutation and role of putative modifier in TOR1A.Advances in the genetics of primary torsion dystonia.TOR1A polymorphisms in a Russian cohort with primary focal/segmental dystonia.TOR1A variants cause a severe arthrogryposis with developmental delay, strabismus and tremor.Extragenetic factors and clinical penetrance of DYT1 dystonia: an exploratory study.
P2860
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P2860
Intragenic Cis and Trans modification of genetic susceptibility in DYT1 torsion dystonia
description
2007 nî lūn-bûn
@nan
2007年の論文
@ja
2007年論文
@yue
2007年論文
@zh-hant
2007年論文
@zh-hk
2007年論文
@zh-mo
2007年論文
@zh-tw
2007年论文
@wuu
2007年论文
@zh
2007年论文
@zh-cn
name
Intragenic Cis and Trans modification of genetic susceptibility in DYT1 torsion dystonia
@ast
Intragenic Cis and Trans modification of genetic susceptibility in DYT1 torsion dystonia
@en
type
label
Intragenic Cis and Trans modification of genetic susceptibility in DYT1 torsion dystonia
@ast
Intragenic Cis and Trans modification of genetic susceptibility in DYT1 torsion dystonia
@en
prefLabel
Intragenic Cis and Trans modification of genetic susceptibility in DYT1 torsion dystonia
@ast
Intragenic Cis and Trans modification of genetic susceptibility in DYT1 torsion dystonia
@en
P2093
P2860
P356
P1476
Intragenic Cis and Trans modification of genetic susceptibility in DYT1 torsion dystonia
@en
P2093
Geetha Senthil
Laurie J Ozelius
Neil J Risch
Susan B Bressman
P2860
P304
P356
10.1086/518427
P407
P577
2007-04-27T00:00:00Z