Dopa-Responsive Dystonia Latest Advances
Find the Latest Research About Dopa-Responsive Dystonia
Last Updated: 04/28/2026
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Found 162 publications
A rare GCH1 p.Arg170Gly variant shows impaired enzymatic activity and co-occurs with a novel NEXMIF p.Asp155GlnfsTer2 leading to a complex neurological phenotype: functional studies and clinical aspects.
Journal: Molecular genetics and metabolism
Published: November 19, 2025
Novel Pathogenic GCH1 Variant in Familial DOPA-Responsive Dystonia.
Journal: Neuropediatrics
Published: November 14, 2025
Clinical and genetic spectrum of L-dopa responsive dystonia: insights from seven Egyptian cases.
Journal: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
Published: October 09, 2025
L-DOPA in diurnal fluctuating dystonia: two different clinical presentations, one treatment.
Journal: Neurogenetics
Published: March 25, 2025
Clinical Reasoning: Juvenile-Onset Dopa-Responsive Dystonia-Until It Isn't.
Journal: Neurology
Published: February 27, 2025
Striatal cell-type-specific molecular signatures reveal potential therapeutic targets in a model of dystonia.
Journal: Neurobiology of disease
Published: February 17, 2025
Dopa-responsive dystonia and phenotypes associated with TH gene variants: a systematic review and Mexican case series.
Journal: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
Published: January 31, 2025
Dopa responsive dystonia due to a GCH1 gene variant mimicking hereditary spastic paraparesis.
Journal: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
Published: November 29, 2024
Novel Phenotypes and Deep Intronic Variant Expand TH-Associated Dopa-Responsive Dystonia Spectrum.
Journal: Annals of clinical and translational neurology
Published: November 20, 2024
Functional movement disorders in dopa-responsive dystonia.
Journal: Parkinsonism & related disorders
Published: September 19, 2024
Genetic and clinical profile of a Brazilian cohort of dopa-responsive dystonia.
Journal: Journal of the neurological sciences
Published: September 01, 2024
Association of Amyotrophic Lateral Sclerosis and Dopa-responsive dystonia in a Tunisian patient.
Journal: Parkinsonism & related disorders
Published: July 31, 2024
Last Updated: 04/28/2026