Torsion Dystonia

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.

February 23, 2021

CNS critical periods: implications for dystonia and other neurodevelopmental disorders.

JCI Insight
Jay LiWilliam T. Dauer
January 28, 2021
Open Access

Genotype-Phenotype Relations for Isolated Dystonia Genes: MDSGene Systematic Review.

Movement Disorders : Official Journal of the Movement Disorder Society
Lara M LangeKatja Lohmann
January 21, 2021
Open Access

Disease modeling with human neurons reveals LMNB1 dysregulation underlying DYT1 dystonia.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience
Baojin DingChun-Li Zhang
January 19, 2021

Striatal Dopamine Induced ERK Phosphorylation Is Altered in Mouse Models of Monogenic Dystonia

Movement Disorders : Official Journal of the Movement Disorder Society
Chiara MelisMichelle E Ehrlich
November 3, 2020
Open Access

Resolving the TorsinA Oligomerization Conundrum: The Glycan Hypothesis

Frontiers in Molecular Biosciences
Christian Fercher, Lucía F Zacchi
September 26, 2020

The abnormal firing of Purkinje cells in the knockin mouse model of DYT1 dystonia.

Brain Research Bulletin
Yuning LiuYuqing Li
July 19, 2020
Open Access

The Dystonia Gene THAP1 Controls DNA Double Strand Break Repair Choice

BioRxiv : the Preprint Server for Biology
K. ShinodaAndre nussenzweig
July 15, 2020

Association of TOR1A and GCH1 Polymorphisms with Isolated Dystonia in India

Journal of Molecular Neuroscience : MN
Subhajit GiriJharna Ray
May 21, 2020
Open Access

Optogenetic Activation of Striatopallidal Neurons Reveals Altered HCN Gating in DYT1 Dystonia

Cell Reports
Giuseppe SciamannaA Pisani
April 15, 2020

Models of dystonia: an update

Journal of Neuroscience Methods
P ImbrianiA Pisani
March 25, 2020
Open Access

The Role of Torsin AAA+ Proteins in Preserving Nuclear Envelope Integrity and Safeguarding Against Disease

Anthony J RampelloChristian Schlieker
March 24, 2020
Open Access

TorsinB overexpression prevents abnormal twisting in DYT1 dystonia mouse models.

Jay LiWilliam T. Dauer
March 18, 2020
Open Access

Whole exome sequencing identifies novel DYT1 dystonia-associated genome variants as potential disease modifiers

BioRxiv : the Preprint Server for Biology
Chih-Fen HuJau-Shyong Hong
February 28, 2020

Clinical and genetic analysis of childhood-onset myoclonus dystonia syndrome caused by SGCE variants

Zhonghua er ke za zhi. Chinese journal of pediatrics
X J TianJ Deng
January 2, 2020

The matter of significance - Has the p.(Glu121Lys) variant of TOR1A gene a pathogenic role in dystonia or Parkinson disease?

Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia
Łukasz MilanowskiDariusz Koziorowski
January 1, 2020
Open Access

Improved survival and overt "dystonic" symptoms in a torsinA hypofunction mouse model

Behavioural Brain Research
Fumiaki YokoiYuqing Li

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