Dystonia is a clinically and genetically highly heterogeneous neurological disorder
characterized by abnormal movements and postures caused by involuntary sustained or …

A line of evidence suggests that the pathophysiology of dystonia involves the striatum,
whose activity is modulated among other neurotransmitters, by the dopaminergic system …

The integrated stress response (ISR) is a highly conserved biochemical pathway involved in
maintaining proteostasis and cell health in the face of diverse stressors. In this Review, we …

Abstract Purpose of Review Since the advent of next-generation sequencing, the number of
genes associated with dystonia has been growing exponentially. We provide here a …

Dystonia is a clinically, genetically, and biologically heterogeneous hyperkinetic movement
disorder caused by the dysfunctional activity of neural circuits involved in motor control. Our …

Dystonia is characterized by involuntary muscle contractions. Its many forms are genetically,
phenotypically and etiologically diverse and it is unknown whether their pathogenesis …

Clinical and experimental data indicate striatal cholinergic dysfunction in dystonia, a
movement disorder typically resulting in twisted postures via abnormal muscle contraction …

In inherited neurodevelopmental diseases, pathogenic processes unique to critical periods
during early brain development may preclude the effectiveness of gene modification …

Critical periods are discrete developmental stages when the nervous system is especially
sensitive to stimuli that facilitate circuit maturation. The distinctive landscapes assumed by …

Selective neuronal vulnerability in neurodegenerative disease is poorly understood. Using
the ATXN1 [82Q] model of spinocerebellar ataxia type 1 (SCA1), we explored the hypothesis …