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Torsion Dystonia

Torsion Dystonia diagram by Iwabuchi et al, PLOS One
Iwabuchi et al, PLOS One

Torsion dystonia is a movement disorder characterized by loss of control of voluntary movements appearing as sustained muscle contractions and/or abnormal postures. Here is the latest research.

Top 20 most recent papers
bioRxiv

Opposing patterns of abnormal D1 and D2 receptor dependent cortico-striatal plasticity explain increased risk taking in patients with DYT1 dystonia

bioRxivDecember 9, 2019
Tom GilbertsonDouglas Steele
3
bioRxiv

TorsinB overexpression prevents abnormal twisting in DYT1 dystonia mouse models

bioRxivNovember 11, 2019
Jay LiWilliam T Dauer
6
bioRxiv

Localization of the signal of dystonia-associated protein torsinA near the Golgi apparatus in cultured central neurons

bioRxivDecember 12, 2019
Sadahiro IwabuchiN Charles Harata
3
bioRxiv

Localization of immunoreactive, dystonia-associated protein torsinA near the Golgi apparatus of cultured rodent astrocytes

bioRxivDecember 12, 2019
Sadahiro IwabuchiN Charles Harata
3
bioRxiv

Transcriptome profiles in brains of mice heterozygous for a DYT1 dystonia-associated mutation in the endogenous Tor1a gene

bioRxivOctober 31, 2019
Sara B MitchellN Charles Harata
3
Human Molecular Genetics

Dystonin-A3 upregulation is responsible for maintenance of tubulin acetylation in a less severe dystonia musculorum mouse model for hereditary sensory and autonomic neuropathy type VI

Human Molecular GeneticsJuly 10, 2018
Anisha Lynch-GodreiRashmi Kothary
3
4
Journal of the American Society of Nephrology : JASN

Transethnic, Genome-Wide Analysis Reveals Immune-Related Risk Alleles and Phenotypic Correlates in Pediatric Steroid-Sensitive Nephrotic Syndrome

Journal of the American Society of Nephrology : JASNJune 16, 2018
Hanna DebiecPierre Ronco
26
12
1
21
Journal of Movement Disorders

The Effect of Globus Pallidus Interna Deep Brain Stimulation on a Dystonia Patient with the GNAL Mutation Compared to Patients with DYT1 and DYT6

Journal of Movement DisordersJune 5, 2019
Jong Hyeon AhnJinyoung Youn
Nature Reviews. Disease Primers

Dystonia

Nature Reviews. Disease PrimersSeptember 22, 2018
Bettina BalintKailash P Bhatia
82
1
43
1
bioRxiv

DYT1 dystonia patient-derived fibroblasts have increased deformability and susceptibility to damage by mechanical forces.

bioRxivNovember 28, 2018
Navjot Kaur GillAmy C Rowat
8
bioRxiv

Expression of TorsinA in a heterologous yeast system reveals interactions with conserved lumenal domains of LINC and nuclear pore complexes

bioRxivSeptember 19, 2018
Madeleine ChalfantC. Patrick Lusk
9
Tremor and Other Hyperkinetic Movements

Dystonia is a Common Phenotypic Feature of MEGDEL Syndrome

Tremor and Other Hyperkinetic MovementsJuly 5, 2018
Josef FinstererAntonio Carlos Almeida
Tremor and Other Hyperkinetic Movements

Naming Genes for Dystonia: DYT-z or Ditzy?

Tremor and Other Hyperkinetic MovementsSeptember 17, 2019
Niccolo E Mencacci, Hyder A Jinnah
Journal of Cellular Biochemistry

MFG-E8/integrin β3 signaling contributes to airway inflammation response and airway remodeling in an ovalbumin-induced murine model of asthma

Journal of Cellular BiochemistryAugust 5, 2018
Yueli ZhiLihong Liang
EBioMedicine

Optogenetic augmentation of the hypercholinergic endophenotype in DYT1 knock-in mice induced erratic hyperactive movements but not dystonia

EBioMedicineMarch 2, 2019
Franziska RichterAngelika Richter
EMBO Molecular Medicine

RGS9-2 rescues dopamine D2 receptor levels and signaling in DYT1 dystonia mouse models

EMBO Molecular MedicineDecember 16, 2018
Paola BonsiAntonio Pisani
5
13
Journal of Neurosurgery. Pediatrics

Frameless robot-assisted pallidal deep brain stimulation surgery in pediatric patients with movement disorders: precision and short-term clinical results

Journal of Neurosurgery. PediatricsJuly 22, 2018
Santiago CandelaBelén Pérez-Dueñas
11
1
21
PloS One

Subtle changes in striatal muscarinic M1 and M4 receptor expression in the DYT1 knock-in mouse model of dystonia

PloS OneDecember 6, 2019
Franziska RichterAngelika Richter
Frontiers in Cell and Developmental Biology

DYT1 Dystonia Patient-Derived Fibroblasts Have Increased Deformability and Susceptibility to Damage by Mechanical Forces

Frontiers in Cell and Developmental BiologyJuly 12, 2019
Navjot Kaur GillAmy C Rowat
3
10
Brain Research

Efficient RNA interference-based knockdown of mutant torsinA reveals reversibility of PERK-eIF2α pathway dysregulation in DYT1 transgenic rats in vivo

Brain ResearchOctober 27, 2018
Genevieve BeauvaisPedro Gonzalez-Alegre
3
1

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