Dystonia Musculorum Deformans
|
0.400 |
Biomarker
|
disease |
MGD |
Cerebellar synaptogenesis is compromised in mouse models of DYT1 dystonia.
|
26183317 |
2015 |
Dystonia Musculorum Deformans
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Characteristic GAG deletion in DYT1 consistently with the diagnosis of torsion dystonia was confirmed in 1 case.
|
24949445 |
2014 |
Dystonia Musculorum Deformans
|
0.400 |
Biomarker
|
disease |
MGD |
Subtle microstructural changes of the cerebellum in a knock-in mouse model of DYT1 dystonia.
|
24121114 |
2014 |
Dystonia Musculorum Deformans
|
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 |
Dystonia Musculorum Deformans
|
0.400 |
Biomarker
|
disease |
BEFREE |
The authors systematically reviewed the published case-control TOR1A association studies in adult-onset primary torsion dystonia.
|
23460578 |
2013 |
Dystonia Musculorum Deformans
|
0.400 |
Biomarker
|
disease |
MGD |
Abnormal cytoplasmic calcium dynamics in central neurons of a dystonia mouse model.
|
23748075 |
2013 |
Dystonia Musculorum Deformans
|
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 |
Dystonia Musculorum Deformans
|
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 |
Dystonia Musculorum Deformans
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
A DYT1 mutation is the most common genetic cause of early-onset primary torsion dystonia.
|
22622408 |
2012 |
Dystonia Musculorum Deformans
|
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 |
Dystonia Musculorum Deformans
|
0.400 |
Biomarker
|
disease |
MGD |
Cerebellothalamocortical pathway abnormalities in torsinA DYT1 knock-in mice.
|
21464304 |
2011 |
Dystonia Musculorum Deformans
|
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 |
Dystonia Musculorum Deformans
|
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 |
Dystonia Musculorum Deformans
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
DYT1 mutations in early onset primary torsion dystonia and Parkinson disease patients in Chinese populations.
|
19038309 |
2009 |
Dystonia Musculorum Deformans
|
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 |
Dystonia Musculorum Deformans
|
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 |
Dystonia Musculorum Deformans
|
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 |
Dystonia Musculorum Deformans
|
0.400 |
Biomarker
|
disease |
BEFREE |
Intragenic Cis and Trans modification of genetic susceptibility in DYT1 torsion dystonia.
|
17503336 |
2007 |
Dystonia Musculorum Deformans
|
0.400 |
Biomarker
|
disease |
LHGDN |
Intragenic Cis and Trans modification of genetic susceptibility in DYT1 torsion dystonia.
|
17503336 |
2007 |
Dystonia Musculorum Deformans
|
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 |
Dystonia Musculorum Deformans
|
0.400 |
Biomarker
|
disease |
BEFREE |
Non-DYT1 early-onset primary torsion dystonia: comparison with DYT1 phenotype and review of the literature.
|
16773641 |
2006 |
Dystonia Musculorum Deformans
|
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 |
Dystonia Musculorum Deformans
|
0.400 |
Biomarker
|
disease |
BEFREE |
Atypical phenotypes and clinical variability in a large Italian family with DYT1-primary torsion dystonia.
|
16874761 |
2006 |
Dystonia Musculorum Deformans
|
0.400 |
Biomarker
|
disease |
MGD |
Loss of the dystonia-associated protein torsinA selectively disrupts the neuronal nuclear envelope.
|
16364897 |
2005 |
Dystonia Musculorum Deformans
|
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 |