| 1 |
34092466 | Investigating DYT1 in a Taiwanese dystonia cohort. | 2022 Jan |
2 |
| 2 |
35533513 | Generation of gene-corrected isogenic control cell lines from a DYT1 dystonia patient iPSC line carrying a heterozygous GAG mutation in TOR1A gene. | 2022 Jul |
3 |
| 3 |
33247415 | Isolated dystonia: clinical and genetic updates. | 2021 Apr |
1 |
| 4 |
33476687 | Investigating the role of striatal dopamine receptor 2 in motor coordination and balance: Insights into the pathogenesis of DYT1 dystonia. | 2021 Apr 9 |
3 |
| 5 |
33757902 | Alteration of the cholinergic system and motor deficits in cholinergic neuron-specific Dyt1 knockout mice. | 2021 Jul |
2 |
| 6 |
33832800 | Monozygotic twins with DYT-TOR1A showing jerking movements and levodopa responsiveness. | 2021 Aug |
4 |
| 7 |
34189496 | Reversal of motor-skill transfer impairment by trihexyphenidyl and reduction of dorsolateral striatal cholinergic interneurons in Dyt1 ΔGAG knock-in mice. | 2021 Dec |
3 |
| 8 |
34536661 | Generation of two induced pluripotent stem cell lines with heterozygous and homozygous GAG deletion in TOR1A gene from a healthy hiPSC line. | 2021 Oct |
3 |
| 9 |
32239467 | Impaired differentiation of human induced neural stem cells by TOR1A overexpression. | 2020 May |
2 |
| 10 |
30042949 | The Impairment of TorsinA's Binding to and Interactions With Its Activator: An Atomistic Molecular Dynamics Study of Primary Dystonia. | 2018 |
1 |
| 11 |
27188707 | Dystonia-Causing Mutations as a Contribution to the Etiology of Spasmodic Dysphonia. | 2016 Oct |
2 |
| 12 |
24500857 | Heterogeneity in primary dystonia: lessons from THAP1, GNAL, and TOR1A in Amish-Mennonites. | 2014 May |
1 |
| 13 |
24931141 | Unraveling cellular phenotypes of novel TorsinA/TOR1A mutations. | 2014 Sep |
2 |
| 14 |
24949445 | The analysis of genetic aberrations in children with inherited neurometabolic and neurodevelopmental disorders. | 2014 |
1 |
| 15 |
25674472 | Intracellular complexes of the early-onset torsion dystonia-associated AAA+ ATPase TorsinA. | 2014 |
1 |
| 16 |
22770546 | Atypical phenotypes of DYT1 dystonia in three children. | 2013 Apr |
2 |
| 17 |
23180184 | Mutation screening of the DYT6/THAP1 gene in Serbian patients with primary dystonia. | 2013 Apr |
1 |
| 18 |
22166420 | Overview of primary monogenic dystonia. | 2012 Jan |
2 |
| 19 |
22226333 | The GAG deletion in Tor1A (DYT1) is a rare cause of complex musician's dystonia. | 2012 Jun |
2 |
| 20 |
22611399 | Untethering the nuclear envelope and cytoskeleton: biologically distinct dystonias arising from a common cellular dysfunction. | 2012 |
3 |
| 21 |
23058565 | Association of rs1182 polymorphism of the DYT1 gene with primary dystonia in Chinese population. | 2012 Dec 15 |
1 |
| 22 |
23196519 | [Hereditary dystonia -- phenotype of DYT1]. | 2012 |
2 |
| 23 |
20825472 | Clinical and genetic evaluation of DYT1 and DYT6 primary dystonia in China. | 2011 Mar |
1 |
| 24 |
20053375 | Expression profiling in peripheral blood reveals signature for penetrance in DYT1 dystonia. | 2010 May |
2 |
| 25 |
19038309 | DYT1 mutations in early onset primary torsion dystonia and Parkinson disease patients in Chinese populations. | 2009 Jan 30 |
1 |
| 26 |
19157930 | Early onset primary dystonia. | 2009 Nov |
1 |
| 27 |
19349605 | Etiology of musician's dystonia: familial or environmental? | 2009 Apr 7 |
1 |
| 28 |
19441135 | Screening for dystonia genes DYT1, 11 and 16 in patients with writer's cramp. | 2009 Jul 15 |
1 |
| 29 |
19457118 | TorsinA and dystonia: from nuclear envelope to synapse. | 2009 Jun |
1 |
| 30 |
19685389 | [Genetics of dystonia]. | 2009 Aug |
3 |
| 31 |
24868365 | Disabling Head Tremor in a Patient with DYT1 Mutation. | 2009 Oct |
1 |
| 32 |
18437909 | DYT1 mutations amongst early onset primary dystonia patients in China. | 2008 Mar |
3 |
| 33 |
19039992 | [Case of DYT1 dystonia (early-onset torsion dystonia) showing long-term focal dystonia in the arm]. | 2008 Nov |
1 |
| 34 |
17105745 | Defective temporal processing of sensory stimuli in DYT1 mutation carriers: a new endophenotype of dystonia? | 2007 Jan |
2 |
| 35 |
17503336 | Intragenic Cis and Trans modification of genetic susceptibility in DYT1 torsion dystonia. | 2007 Jun |
2 |
| 36 |
17539945 | Clinical characteristics of carriers of a GAG deletion in the DYT1 gene amongst Polish patients with primary dystonia. | 2007 Jun |
2 |
| 37 |
16773641 | Non-DYT1 early-onset primary torsion dystonia: comparison with DYT1 phenotype and review of the literature. | 2006 Sep |
1 |
| 38 |
16874761 | Atypical phenotypes and clinical variability in a large Italian family with DYT1-primary torsion dystonia. | 2006 Oct |
1 |
| 39 |
15593317 | Mutant torsinA, which causes early-onset primary torsion dystonia, is redistributed to membranous structures enriched in vesicular monoamine transporter in cultured human SH-SY5Y cells. | 2005 Apr |
1 |
| 40 |
15897512 | Genetic heterogeneity in rapid onset dystonia-parkinsonism: description of a new family. | 2005 Jun |
1 |
| 41 |
14711988 | Mislocalization to the nuclear envelope: an effect of the dystonia-causing torsinA mutation. | 2004 Jan 20 |
3 |
| 42 |
12609485 | TorsinA protein and neuropathology in early onset generalized dystonia with GAG deletion. | 2003 Feb |
1 |
| 43 |
12783425 | Toward therapy for DYT1 dystonia: allele-specific silencing of mutant TorsinA. | 2003 Jun |
2 |
| 44 |
12822816 | Natural history of Oppenheim's dystonia (DYT1) in Israel. | 2003 May |
1 |
| 45 |
12975293 | Frequency and phenotypic variability of the GAG deletion of the DYT1 gene in an unselected group of patients with dystonia. | 2003 Sep |
3 |
| 46 |
11921121 | Intrafamilial phenotypic variability of the DYT1 dystonia: from asymptomatic TOR1A gene carrier status to dystonic storm. | 2002 Mar |
2 |
| 47 |
11973627 | Inherited and de novo mutations in sporadic cases of DYT1-dystonia. | 2002 Mar |
1 |
| 48 |
11993591 | Primary torsion dystonia due to the Tor1A GAG deletion in an Irish family. | 2002 Jan-Mar |
3 |
| 49 |
12360559 | Phenotypic variability of DYT1-PTD: does the clinical spectrum include psychogenic dystonia? | 2002 Sep |
1 |
| 50 |
12481989 | Multiple founder effects in Japanese families with primary torsion dystonia harboring the GAG deletion in the Tor1A (DYT1) gene. | 2002 Oct |
2 |