Structural magnetic resonance imaging in dystonia: A systematic review of methodological approaches and findings

CL MacIver, CMW Tax, DK Jones… - European journal of …, 2022 - Wiley Online Library
Background and purpose Structural magnetic resonance techniques have been widely
applied in neurological disorders to better understand tissue changes, probing …

Neuroimaging applications in dystonia

K Simonyan - International review of neurobiology, 2018 - Elsevier
Dystonia is a neurological disorder characterized by involuntary, repetitive movements.
Although the precise mechanisms of dystonia development remain unknown, the diversity of …

Pathophysiology of Dyt1-Tor1a dystonia in mice is mediated by spinal neural circuit dysfunction

AM Pocratsky, F Nascimento, MG Özyurt… - Science translational …, 2023 - science.org
Dystonia, a neurological disorder defined by abnormal postures and disorganized
movements, is considered to be a neural circuit disorder with dysfunction arising within and …

Cerebellar dysfunction as a source of dystonic phenotypes in mice

AM Brown, ME van der Heijden, HA Jinnah, RV Sillitoe - The Cerebellum, 2023 - Springer
There is now a substantial amount of compelling evidence demonstrating that the
cerebellum may be a central locus in dystonia pathogenesis. Studies using spontaneous …

Diffusion magnetic resonance imaging-derived free water detects neurodegenerative pattern induced by interferon-γ

M Febo, PD Perez, C Ceballos-Diaz… - Brain Structure and …, 2020 - Springer
Imaging biomarkers for immune activation may be valuable for early-stage detection,
therapeutic testing, and research on neurodegenerative conditions. In the present study, we …

The HIV protease inhibitor, ritonavir, corrects diverse brain phenotypes across development in mouse model of DYT-TOR1A dystonia

ZF Caffall, BJ Wilkes, R Hernández-Martinez… - Science translational …, 2021 - science.org
Dystonias are a group of chronic movement–disabling disorders for which highly effective
oral medications or disease-modifying therapies are lacking. The most effective treatments …

[HTML][HTML] Decreased number of striatal cholinergic interneurons and motor deficits in dopamine receptor 2-expressing-cell-specific Dyt1 conditional knockout mice

F Yokoi, J Oleas, H Xing, Y Liu, KM Dexter… - Neurobiology of …, 2020 - Elsevier
DYT1 early-onset generalized torsion dystonia is a hereditary movement disorder
characterized by abnormal postures and repeated movements. It is caused mainly by a …

DYT-TOR1A dystonia: an update on pathogenesis and treatment

Y Fan, Z Si, L Wang, L Zhang - Frontiers in Neuroscience, 2023 - frontiersin.org
DYT-TOR1A dystonia is a neurological disorder characterized by involuntary muscle
contractions and abnormal movements. It is a severe genetic form of dystonia caused by …

The role of torsin AAA+ proteins in preserving nuclear envelope integrity and safeguarding against disease

AJ Rampello, SM Prophet, C Schlieker - Biomolecules, 2020 - mdpi.com
Torsin ATPases are members of the AAA+ (ATPases associated with various cellular
activities) superfamily of proteins, which participate in essential cellular processes. While …

[HTML][HTML] Neural endophenotypes and predictors of laryngeal dystonia penetrance and manifestation

S Khosravani, G Chen, LJ Ozelius, K Simonyan - Neurobiology of disease, 2021 - Elsevier
Focal dystonias are the most common forms of isolated dystonia; however, the
etiopathophysiological signatures of disorder penetrance and clinical manifestation remain …