Dopa-Responsive Dystonia Latest Advances
Find the Latest Research About Dopa-Responsive Dystonia
Last Updated: 09/26/2026
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Found 165 publications
A case of dopa-responsive dystonia with a novel GCH1 variant c.579 C > G (p.Ile193Met).
Journal: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
Published: April 24, 2026
Metabolic and Volumetric Alterations in the Basal Ganglia and the Cerebellum in Dopa-Responsive Dystonia in Symptomatic and Asymptomatic GCH1 Mutation Carriers.
Journal: Movement disorders : official journal of the Movement Disorder Society
Published: January 28, 2026
A Case Report of Infantile Dopa-Responsive Dystonia Onset With Sleep Disorder Complicated With Autism Spectrum Disorder.
Journal: British journal of hospital medicine (London, England : 2005)
Published: January 08, 2026
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
Long-Term Outcomes in Tyrosine Hydroxylase Deficiency: A Case Series of Four Paediatric Patients.
Journal: International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience
Published: August 05, 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
Last Updated: 09/26/2026