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.

October 31, 2019
Preprint
Open Access

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

BioRxiv : the Preprint Server for Biology
Sara B MitchellN Charles Harata
August 7, 2018
Open Access

Side Effects of Phototherapy on Neonates

American Journal of Perinatology
Fabrízia R S FaulhaberRita C Silveira
July 20, 2019
Open Access

Diverse Mechanisms Lead to Common Dysfunction of Striatal Cholinergic Interneurons in Distinct Genetic Mouse Models of Dystonia

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience
Karen L Eskow JaunarajsDavid G Standaert
July 15, 2020

Association of TOR1A and GCH1 Polymorphisms with Isolated Dystonia in India

Journal of Molecular Neuroscience : MN
Subhajit GiriJharna Ray
September 19, 2018
Preprint
Open Access

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

BioRxiv : the Preprint Server for Biology
Madeleine ChalfantC. Patrick Lusk
December 9, 2019
Preprint
Open Access

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

BioRxiv : the Preprint Server for Biology
Tom GilbertsonDouglas Steele
March 18, 2020
Preprint
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 12, 2020
Open Access

Dystonia: Sparse Synapses for D2 Receptors in Striatum of a DYT1 Knock-out Mouse Model

International Journal of Molecular Sciences
Vincenza D'AngeloGiuseppe Sancesario
August 18, 2018
Open Access

A cell autonomous torsinA requirement for cholinergic neuron survival and motor control

ELife
Samuel S PappasWilliam T Dauer
December 12, 2019
Preprint
Open Access

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

BioRxiv : the Preprint Server for Biology
Sadahiro IwabuchiN Charles Harata
September 9, 2018
Open Access

Hypertrophy of nigral neurons in Torsin1A deletion (DYT1) carriers manifesting dystonia

Parkinsonism & Related Disorders
Diego IaconoRoger Kurlan
September 22, 2018
Review

Dystonia

Nature Reviews. Disease Primers
Bettina BalintKailash P Bhatia
July 19, 2020
Preprint
Open Access

The Dystonia Gene THAP1 Controls DNA Double Strand Break Repair Choice

BioRxiv : the Preprint Server for Biology
K. ShinodaAndre nussenzweig
March 19, 2019

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

Journal of Voice : Official Journal of the Voice Foundation
Mary E FingerLyndsay L Madden
September 24, 2018
Case Report

Biallelic TOR1A mutations cause severe arthrogryposis: A case requiring reverse phenotyping

European Journal of Medical Genetics
Esra IsikFerda Ozkinay
August 14, 2018
Open Access

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

Parkinsonism & Related Disorders
Olena OhleiLars Bertram
July 25, 2018

Digitized spiral analysis may be a potential biomarker for brachial dystonia

Parkinsonism & Related Disorders
Jeffrey RatliffRachel Saunders-Pullman

Sign up to follow this feed and discover related papers.

Related Feeds

22q11 Deletion Syndrome

22q11.2 deletion syndrome, also known as DiGeorge syndrome, is a congenital disorder caused as a result of a partial deletion of chromosome 22. Here is the latest research.

4H Leukodystrophy

4H Lekodystrophy involves hypomyelination, hypogonadotropic hypogonadism and hypodontia. It is also known as POLR-3Related Leukodystrophy. 4H syndrome symptoms include delayed or abnormal puberty, issues with central nervous system signal transmission, abnormal development of teeth, and symptoms tend to progressively get worse over time. There is not yet a known cure.

ALS

Amyotrophic Lateral Sclerosis (ALS), also known as motor neuron disease, is associated with the death of neurons that control voluntary muscles. Discover the latest research on ALS here.

ALS & FTD: TDP-43

ALS shares with a considerable proportion of FTD cases the same neuropathological substrate, namely, inclusions of abnormally phosphorylated protein tdp-43 (ptdp-43). Here are the latest discoveries pertaining to ptdp-43 and these diseases.

ALS - Pathogenic Mechanisms

Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disorder characterized by muscle weakness. Here is the latest research investigating pathogenic mechanisms that underlie this genetically heterogeneous disorder.

ALS - Phenotypes

Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disorder characterized by muscle weakness. Here is the latest research investigating phenotypes associated with this genetically heterogeneous disorder.

ALS: Genetics

Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disorder characterized by muscle weakness. ALS is a genetically heterogeneous disorder with several causative genes. Here are the latest discoveries pertaining to the genetics of this disease.

ALS: Prions

Prions are misfolded proteins which characterize several fatal neurodegenerative diseases. Prion-like mechanisms are associated with the pathogenesis of Amyotrophic Lateral Sclerosis (ALS). Here are the latest discoveries pertaining to this disease.

ALS: Stress Granules

Amyotrophic Lateral Sclerosis (ALS) is a neurodegenerative disease characterized by cytoplasmic protein aggregates within motor neurons. TDP-43 is an ALS-linked protein that is known to regulate splicing and storage of specific mRNAs into stress granules, which have been implicated in formation of ALS protein aggregates. Here is the latest research.

ALS: Therapies

Amyotrophic Lateral Sclerosis (ALS), also known as motor neuron disease, is associated with the death of neurons that control voluntary muscles. Discover the latest research on ALS therapies here.

© 2020 Meta ULC. All rights reserved
/feed-previews/torsion-dystonia/4e0f78b4-efcd-45f6-93d5-0b85a2c07c51