ArticleJournal of neurology2018
GCH1 mutations in dopa-responsive dystonia and Parkinson's disease.
Article in Journal of neurology, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
25 citing papers in PubMed, 1 synthesis or guideline pooled it, 48 citations in OpenAlex.
- Follow-up and outcome of patients with primary BH4 deficiencies.Frontiers in neurologyPooled it
- A guanosine metabolism-bioenergetics intersection drives Parkinson's disease.bioRxiv : the preprint server for biology · 2026Article
- Genetic and environmental risk factors of Parkinsonism.Journal of neural transmission (Vienna, Austria : 1996) · 2026Review
- A case of dopa-responsive dystonia with a novel GCH1 variant c.579 C > G (p.Ile193Met).Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2026Article
- Pediatric Genetic Dystonias: Current Diagnostic Approaches and Treatment Options.Life (Basel, Switzerland) · 2025Review
- Central biogenic amine deficiency with concomitant exploratory behavioral deficits in Dnajc12 knock-out mice.NPJ Parkinson's disease · 2025Article
- Prequalification of genome-based newborn screening for severe childhood genetic diseases through federated training based on purifying hyperselection.American journal of human genetics · 2024Article
- Parkinson's families project: a UK-wide study of early onset and familial Parkinson's disease.NPJ Parkinson's disease · 2024Article
- A critical appraisal of ferroptosis in Alzheimer's and Parkinson's disease: new insights into emerging mechanisms and therapeutic targets.Frontiers in pharmacology · 2024Review
- The genetic spectrum of a cohort of patients clinically diagnosed as Parkinson's disease in mainland China.NPJ Parkinson's disease · 2023Article
- Crucial neuroprotective roles of the metabolite BH4 in dopaminergic neurons.bioRxiv : the preprint server for biology · 2023Article
- What Is Hemidystonia?Movement disorders clinical practice · 2023Article
- An atlas of transcriptionally defined cell populations in the rat ventral tegmental area.Cell reports · 2022Article
- Clinical Manifestations and Molecular Backgrounds of Parkinson's Disease Regarding Genes Identified From Familial and Population Studies.Frontiers in neurology · 2022Review
- Recognizing Atypical Dopa-Responsive Dystonia and Its Mimics.Neurology. Clinical practice · 2021Review
- A Case of GCH-1 Mutation Dopa-Responsive Dystonia Requiring High Doses of Levodopa for Treatment.Tremor and other hyperkinetic movements (New York, N.Y.) · 2021Article
- Older-onset levodopa-responsive parkinsonism with normal DAT-SPECT and pterin hypometabolism.BMJ case reports · 2021Article
- Combined dystonias: clinical and genetic updates.Journal of neural transmission (Vienna, Austria : 1996) · 2021Review
- Targeted sequencing of Parkinson's disease loci genes highlights SYT11, FGF20 and other associations.Brain : a journal of neurology · 2021Article
- Pacific Biosciences assembly with Hi-C mapping generates an improved, chromosome-level goose genome.GigaScience · 2020Article
Corrections and comments
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Authors and funding
24 authors at 10 institutions in 1 country.
Funding
Abstract
Guanosine triphosphate cyclohydrolase I (GCH1) mutations are associated with increased risk for dopa-responsive dystonia (DRD) and Parkinson's disease (PD). Herein, we investigated the frequency of GCH1 mutations and clinical symptoms in patients with clinically diagnosed PD and DRD. We used the Sanger method to screen entire exons in 268 patients with PD and 26 patients with DRD, with the examinations of brain magnetic resonance imaging scans, striatal dopamine transporter scans, and [
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.