|
DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT
|
0.900 |
Biomarker
|
disease |
BEFREE |
DYT1+ patients were more likely to achieve ≥ 50% improvement (65%) in BFMDRS-D than DTY1- individuals (29%, p = 0.02), although there was no difference in BFMDRS-M ≥ 50% improvement rates between DYT1+ (66%) or DYT1- (43%) children (p = 0.11).
|
30397842 |
2018 |
|
DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
All parents who were carriers of the TOR1A variant showed no evidence of neurological symptoms or signs, indicating decreased penetrance similar to families with autosomal dominant torsion dystonia-1.
|
29053766 |
2017 |
|
DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT
|
0.900 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Biallelic TOR1A variants in an infant with severe arthrogryposis.
|
28516161 |
2017 |
|
DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
Structures of TorsinA and its disease-mutant complexed with an activator reveal the molecular basis for primary dystonia.
|
27490483 |
2016 |
|
DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT
|
0.900 |
Biomarker
|
disease |
BEFREE |
Functional correlates of symptomatic DYT1 patients (symptomatic DYT1 vs healthy controls) showed increased connectivity in the sensorimotor network.
|
27453152 |
2016 |
|
DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT
|
0.900 |
Biomarker
|
disease |
MGD |
Cerebellar synaptogenesis is compromised in mouse models of DYT1 dystonia.
|
26183317 |
2015 |
|
DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Neuropathological features of genetically confirmed DYT1 dystonia: investigating disease-specific inclusions.
|
25403864 |
2014 |
|
DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT
|
0.900 |
Biomarker
|
disease |
MGD |
Subtle microstructural changes of the cerebellum in a knock-in mouse model of DYT1 dystonia.
|
24121114 |
2014 |
|
DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT
|
0.900 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Genome sequencing identifies major causes of severe intellectual disability.
|
24896178 |
2014 |
|
DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Here, I review the clinical genetics and cell biology of three forms of inherited dystonia for which the causative mutation is known: DYT1 (TOR1A), DYT6 (THAP1), DYT25 (GNAL).
|
25155315 |
2014 |
|
DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Early onset isolated dystonia (DYT1) is linked to a three base pair deletion (ΔGAG) mutation in the TOR1A gene.
|
25403864 |
2014 |
|
DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
We report here different assays useful in determining various parameters of cell migration in DYT1 patient cells as a consequence of the TOR1A gene mutation, including a microfluidic platform, which provides a means to evaluate real-time vectorial movement with single cell resolution in a three-dimensional environment.
|
24880044 |
2014 |
|
DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT
|
0.900 |
Biomarker
|
disease |
MGD |
Abnormal cytoplasmic calcium dynamics in central neurons of a dystonia mouse model.
|
23748075 |
2013 |
|
DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT
|
0.900 |
Biomarker
|
disease |
MGD |
Cerebellothalamocortical pathway abnormalities in torsinA DYT1 knock-in mice.
|
21464304 |
2011 |
|
DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Genetic and clinical features of primary torsion dystonia.
|
21168499 |
2011 |
|
DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
CSN complex controls the stability of selected synaptic proteins via a torsinA-dependent process.
|
21102408 |
2011 |
|
DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
After characterization of the TOR1A promoter, we demonstrate that THAP1 binds to the core promoter of TOR1A.
|
20976771 |
2010 |
|
DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT
|
0.900 |
Biomarker
|
disease |
BEFREE |
Because of the established role of the TOR1A gene in heritable generalised dystonia (DYT1), a potential genetic contribution of TOR1A to the more prevalent and diverse presentations of late onset, focal dystonia has been suggested.
|
19955557 |
2010 |
|
DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
Because of the established role of the TOR1A gene in heritable generalised dystonia (DYT1), a potential genetic contribution of TOR1A to the more prevalent and diverse presentations of late onset, focal dystonia has been suggested.
|
19955557 |
2010 |
|
DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
The early-onset torsion dystonia-associated protein, torsinA, displays molecular chaperone activity in vitro.
|
20169475 |
2010 |
|
DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
TorsinA binds the KASH domain of nesprins and participates in linkage between nuclear envelope and cytoskeleton.
|
18827015 |
2008 |
|
DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
The dystonia-associated protein torsinA modulates synaptic vesicle recycling.
|
18167355 |
2008 |
|
DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
The sequence change described here may be a novel pathogenic mutation of TOR1A in DYT1.
|
18477710 |
2008 |
|
DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
The sequence change described here may be a novel pathogenic mutation of TOR1A in DYT1.
|
18477710 |
2008 |
|
DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
Mutant torsinA interferes with protein processing through the secretory pathway in DYT1 dystonia cells.
|
17428918 |
2007 |