X-Linked Dystonia-Parkinsonism Latest Advances

Long-term response to deep brain stimulation of the globus pallidus internus in a patient of African origin with a homozygous DYT-AOPEP variant.

Journal: Parkinsonism & related disorders

Published: April 23, 2026

Optogenetic Inhibition of Striatal Parvalbuminergic Interneurons Unmasks Impaired GABA and Adenosine Signaling in DYT1 Knock-In Mice.

Journal: International journal of molecular sciences

Published: April 11, 2026

A Novel Pathogenic Variant Identified in HIKESHI-Related Hypomyelinating Leukodystrophy Disrupts Heat Shock Response in iPSCs.

Journal: International journal of molecular sciences

Published: May 23, 2025

Quality of Life after Deep Brain Stimulation: A Primary versus Secondary Dystonia Comparative Study.

Journal: Stereotactic and functional neurosurgery

Published: December 19, 2024

Mutation in Prkra results in cerebellar abnormality and reduced eIF2α phosphorylation in a model of DYT-PRKRA.

Journal: Disease models & mechanisms

Published: June 03, 2024

RANBP17 Overexpression Restores Nucleocytoplasmic Transport and Ameliorates Neurodevelopment in Induced DYT1 Dystonia Motor Neurons.

Journal: The Journal of neuroscience : the official journal of the Society for Neuroscience

Published: September 11, 2023

Neuropathology and morphometry of dentate nucleus neurons in DYT1 brains: Cerebellar abnormalities in isolated dystonia.

Journal: Journal of neuropathology and experimental neurology

Published: June 23, 2023

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

Journal: Science translational medicine

Published: May 03, 2023

Ultrastructural analysis of nigrostriatal dopaminergic terminals in a knockin mouse model of DYT1 dystonia.

Journal: The European journal of neuroscience

Published: March 08, 2023

Cell-specific Dyt1 ∆GAG knock-in to basal ganglia and cerebellum reveal differential effects on motor behavior and sensorimotor network function.

Journal: Experimental neurology

Published: February 17, 2023

"A man with an arched back": Expert commentary.

Journal: Parkinsonism & related disorders

Published: September 13, 2022

Neuroimaging findings in DYT1 dystonia and the pathophysiological implication: A systematic review.

Journal: Brain and behavior

Published: September 04, 2022

X-Linked Dystonia-Parkinsonism Latest Advances

Find the Latest Research About X-Linked Dystonia-Parkinsonism

Long-term response to deep brain stimulation of the globus pallidus internus in a patient of African origin with a homozygous DYT-AOPEP variant.

Long-term response to deep brain stimulation of the globus pallidus internus in a patient of African origin with a homozygous DYT-AOPEP variant.

Optogenetic Inhibition of Striatal Parvalbuminergic Interneurons Unmasks Impaired GABA and Adenosine Signaling in DYT1 Knock-In Mice.

Optogenetic Inhibition of Striatal Parvalbuminergic Interneurons Unmasks Impaired GABA and Adenosine Signaling in DYT1 Knock-In Mice.

A Novel Pathogenic Variant Identified in HIKESHI-Related Hypomyelinating Leukodystrophy Disrupts Heat Shock Response in iPSCs.

A Novel Pathogenic Variant Identified in HIKESHI-Related Hypomyelinating Leukodystrophy Disrupts Heat Shock Response in iPSCs.

Quality of Life after Deep Brain Stimulation: A Primary versus Secondary Dystonia Comparative Study.

Quality of Life after Deep Brain Stimulation: A Primary versus Secondary Dystonia Comparative Study.

Mutation in Prkra results in cerebellar abnormality and reduced eIF2α phosphorylation in a model of DYT-PRKRA.

Mutation in Prkra results in cerebellar abnormality and reduced eIF2α phosphorylation in a model of DYT-PRKRA.

RANBP17 Overexpression Restores Nucleocytoplasmic Transport and Ameliorates Neurodevelopment in Induced DYT1 Dystonia Motor Neurons.

RANBP17 Overexpression Restores Nucleocytoplasmic Transport and Ameliorates Neurodevelopment in Induced DYT1 Dystonia Motor Neurons.

Neuropathology and morphometry of dentate nucleus neurons in DYT1 brains: Cerebellar abnormalities in isolated dystonia.

Neuropathology and morphometry of dentate nucleus neurons in DYT1 brains: Cerebellar abnormalities in isolated dystonia.

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

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

Ultrastructural analysis of nigrostriatal dopaminergic terminals in a knockin mouse model of DYT1 dystonia.

Ultrastructural analysis of nigrostriatal dopaminergic terminals in a knockin mouse model of DYT1 dystonia.

Cell-specific Dyt1 ∆GAG knock-in to basal ganglia and cerebellum reveal differential effects on motor behavior and sensorimotor network function.

Cell-specific Dyt1 ∆GAG knock-in to basal ganglia and cerebellum reveal differential effects on motor behavior and sensorimotor network function.

"A man with an arched back": Expert commentary.

"A man with an arched back": Expert commentary.

Neuroimaging findings in DYT1 dystonia and the pathophysiological implication: A systematic review.

Neuroimaging findings in DYT1 dystonia and the pathophysiological implication: A systematic review.