×
Entrez Id:
1861
Gene Symbol:
TOR1A
TOR1A
0.400
Biomarker
disease
MGD
Cerebellar synaptogenesis is compromised in mouse models of DYT1 dystonia.
26183317
2015
×
Entrez Id:
1861
Gene Symbol:
TOR1A
TOR1A
0.400
GeneticVariation
disease
BEFREE
Characteristic GAG deletion in DYT1 consistently with the diagnosis of torsion dystonia was confirmed in 1 case.
24949445
2014
×
Entrez Id:
1861
Gene Symbol:
TOR1A
TOR1A
0.400
Biomarker
disease
MGD
Subtle microstructural changes of the cerebellum in a knock-in mouse model of DYT1 dystonia.
24121114
2014
×
Entrez Id:
1861
Gene Symbol:
TOR1A
TOR1A
0.400
GeneticVariation
disease
BEFREE
Only three genes for primary torsion dystonia (PTD), TOR1A (DYT1 ), THAP1 (DYT6) and CIZ1 (ref.5), have been identified.
23222958
2013
×
Entrez Id:
1861
Gene Symbol:
TOR1A
TOR1A
0.400
Biomarker
disease
BEFREE
The authors systematically reviewed the published case-control TOR1A association studies in adult-onset primary torsion dystonia .
23460578
2013
×
Entrez Id:
1861
Gene Symbol:
TOR1A
TOR1A
0.400
Biomarker
disease
MGD
Abnormal cytoplasmic calcium dynamics in central neurons of a dystonia mouse model.
23748075
2013
×
Entrez Id:
1861
Gene Symbol:
TOR1A
TOR1A
0.400
Biomarker
disease
BEFREE
Also, patients with leg or arm onset at a younger age are more likely to be DYT1 -positive among primary torsion dystonia cases.
22487959
2012
×
Entrez Id:
1861
Gene Symbol:
TOR1A
TOR1A
0.400
Biomarker
disease
BEFREE
Our findings highlight the sustained benefit from DBS and the importance of early referral for DBS in children with medically refractory DYT1 primary torsion dystonia , which can lead to improved long-term benefits.
22811083
2012
×
Entrez Id:
1861
Gene Symbol:
TOR1A
TOR1A
0.400
GeneticVariation
disease
BEFREE
A DYT1 mutation is the most common genetic cause of early-onset primary torsion dystonia .
22622408
2012
×
Entrez Id:
1861
Gene Symbol:
TOR1A
TOR1A
0.400
Biomarker
disease
BEFREE
Inherited dystonia designated by DYT locus symbols can be separated into three broad phenotypic categories: primary torsion dystonia (PTD), where dystonia is the only clinical sign (except for tremor) (DYT1 , 2, 4, 6, 7, 13, 17, and 21); dystonia plus loci, where other phenotypes in addition to dystonia, including parkinsonism or myoclonus, are present (DYT3, 5/14, 11, 12, 15, and 16); and paroxysmal forms of dystonia/dyskinesia (DYT8, 9, 10, 18, 19, and 20).
22266882
2011
×
Entrez Id:
1861
Gene Symbol:
TOR1A
TOR1A
0.400
Biomarker
disease
MGD
Cerebellothalamocortical pathway abnormalities in torsinA DYT1 knock-in mice.
21464304
2011
×
Entrez Id:
1861
Gene Symbol:
TOR1A
TOR1A
0.400
GeneticVariation
disease
BEFREE
The TOR1A and THAP1 genes were screened for mutations in a cohort of 21 Brazilian patients with Primary torsion dystonia (PTD).
20925076
2010
×
Entrez Id:
1861
Gene Symbol:
TOR1A
TOR1A
0.400
GeneticVariation
disease
BEFREE
Mutations in the TOR1A gene, primarily a 3-bp (GAG) deletion are associated with early-onset autosomal dominant torsion dystonia .
19028553
2009
×
Entrez Id:
1861
Gene Symbol:
TOR1A
TOR1A
0.400
GeneticVariation
disease
BEFREE
DYT1 mutations in early onset primary torsion dystonia and Parkinson disease patients in Chinese populations.
19038309
2009
×
Entrez Id:
1861
Gene Symbol:
TOR1A
TOR1A
0.400
Biomarker
disease
BEFREE
Early onset (DYT1 ) torsion dystonia is a dominantly inherited movement disorder associated with a three-base pair (DeltaGAG) deletion that removes a glutamic acid residue from the protein torsinA.
19651773
2009
×
Entrez Id:
1861
Gene Symbol:
TOR1A
TOR1A
0.400
GeneticVariation
disease
BEFREE
The only known genetic cause of early-onset primary torsion dystonia is the GAG deletion in the DYT1 gene.
18571468
2008
×
Entrez Id:
1861
Gene Symbol:
TOR1A
TOR1A
0.400
GeneticVariation
disease
BEFREE
Over the last two decades an increasing number of genetic causes have been identified, including an important genetic cause for early-onset primary torsion dystonia (PTD): a GAG deletion in exon 5 of DYT1 , a gene that encodes torsinA.
18267263
2007
×
Entrez Id:
1861
Gene Symbol:
TOR1A
TOR1A
0.400
Biomarker
disease
BEFREE
Intragenic Cis and Trans modification of genetic susceptibility in DYT1 torsion dystonia .
17503336
2007
×
Entrez Id:
1861
Gene Symbol:
TOR1A
TOR1A
0.400
Biomarker
disease
LHGDN
Intragenic Cis and Trans modification of genetic susceptibility in DYT1 torsion dystonia .
17503336
2007
×
Entrez Id:
1861
Gene Symbol:
TOR1A
TOR1A
0.400
Biomarker
disease
BEFREE
DYT1 primary torsion dystonia is an autosomal dominant disorder caused by deletion of a GAG triplet in exon 5 of the DYT1 gene.
17539945
2007
×
Entrez Id:
1861
Gene Symbol:
TOR1A
TOR1A
0.400
Biomarker
disease
BEFREE
Non-DYT1 early-onset primary torsion dystonia : comparison with DYT1 phenotype and review of the literature.
16773641
2006
×
Entrez Id:
1861
Gene Symbol:
TOR1A
TOR1A
0.400
GeneticVariation
disease
BEFREE
Most cases of early-onset primary torsion dystonia are caused by the same 3-bp (GAG) deletion in the DYT1 gene.
17027035
2006
×
Entrez Id:
1861
Gene Symbol:
TOR1A
TOR1A
0.400
Biomarker
disease
BEFREE
Atypical phenotypes and clinical variability in a large Italian family with DYT1 -primary torsion dystonia .
16874761
2006
×
Entrez Id:
1861
Gene Symbol:
TOR1A
TOR1A
0.400
Biomarker
disease
MGD
Loss of the dystonia-associated protein torsinA selectively disrupts the neuronal nuclear envelope.
16364897
2005
×
Entrez Id:
1861
Gene Symbol:
TOR1A
TOR1A
0.400
GeneticVariation
disease
BEFREE
To determine whether reduced striatal D2 receptor binding reported in patients with idiopathic torsion dystonia is associated with the genotype, the authors used PET and [11C]-raclopride to assess non-manifesting carriers of the DYT1 mutation.
15668438
2005