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Torsion Dystonia

Torsion Dystonia diagram by Sadahiro Iwabuchi et al
Sadahiro Iwabuchi et al

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

TorsinB overexpression prevents abnormal twisting in DYT1 dystonia mouse models

bioRxivNovember 11, 2019
Jay LiWilliam T Dauer
5
bioRxiv

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

bioRxivOctober 31, 2019
Sara B. MitchellNobutoshi Harata
3
Nature Reviews. Disease Primers

Dystonia

Nature Reviews. Disease PrimersSeptember 20, 2018
Bettina BalintKailash P Bhatia
82
1
6
1
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 M Ronco
27
12
1
21
Plant Molecular Biology

Exon junction complex (EJC) core genes play multiple developmental roles in Physalis floridana

Plant Molecular BiologyNovember 15, 2018
Pi-Chang GongChaoying He
Parkinsonism & Related Disorders

Digitized spiral analysis may be a potential biomarker for brachial dystonia

Parkinsonism & Related DisordersJuly 25, 2018
Jeffrey RatliffRachel Saunders-Pullman
2
6
Tremor and Other Hyperkinetic Movements

Naming Genes for Dystonia: DYT-z or Ditzy?

Tremor and Other Hyperkinetic MovementsAugust 28, 2019
Niccolò Emmanuele Mencacci, Hyder Azad Jinnah
bioRxiv

Field synopsis and systematic meta-analyses of genetic association studies in isolated dystonia

bioRxivApril 23, 2018
Olena OhleiLars Bertram
4
Journal of the Neurological Sciences

Targeted gene capture sequencing in diagnosis of dystonia patients

Journal of the Neurological SciencesMay 30, 2018
Jun MaXin Hua Wan
Tremor and Other Hyperkinetic Movements

Risk Factor Genes in Patients with Dystonia: A Comprehensive Review

Tremor and Other Hyperkinetic MovementsJanuary 9, 2019
Vasileios SiokasEfthimios Dardiotis
Human Mutation

Motor protein binding and mitochondrial transport are altered by pathogenic TUBB4A variants

Human MutationAugust 7, 2018
Franca VulinovićAleksandar Rakovic
1
12
Journal of Voice : Official Journal of the Voice Foundation

Auditory-Perceptual Evaluation of Deep Brain Stimulation on Voice and Speech in Patients With Dystonia

Journal of Voice : Official Journal of the Voice FoundationMarch 14, 2019
Mary E FingerLyndsay L Madden
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
9
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
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 BiologyJune 26, 2019
Navjot Kaur GillAmy C. Rowat
Journal of Korean Medical Science

Expanding the Spectrum of Dopa-Responsive Dystonia (DRD) and Proposal for New Definition: DRD, DRD-plus, and DRD Look-alike

Journal of Korean Medical ScienceJuly 9, 2018
Woong-Woo LeeRyul Kim
1
7
Neurology. Genetics

Epidemiology of DYT1 dystonia: Estimating prevalence via genetic ascertainment

Neurology. GeneticsOctober 1, 2019
Joseph ParkPedro Gonzalez-Alegre
Infection and Drug Resistance

Human herpesvirus-6 pneumonitis in a patient with follicular lymphoma following immunochemotherapy with rituximab

Infection and Drug ResistanceMay 14, 2018
Saeko Kuwahara-OtaJunya Kuroda
Neurobiology of Disease

Advances in molecular and cell biology of dystonia: Focus on torsinA

Neurobiology of DiseaseMarch 17, 2019
Pedro Gonzalez-Alegre

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