Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

A Novel Variant of GCH1 in Dopa-Responsive Dystonia With Oculogyric Crises and Intrafamilial Phenotypic Heterogeneity

24 Jul 2023

Abstract excerpt

No abstract is available from the source.

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Genetic Neurodegenerative Diseases
Share to Neurological diseases and metabolism
Share to Neurological disorders and treatments

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 37482672
DOI: 10.14802/jmd.23085

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A Novel Variant of GCH1 in Dopa-Responsive Dystonia With Oculogyric Crises and Intrafamilial Phenotypic HeterogeneityPMID 37482672Read ↗

A novel mutation in GCH-1 gene in a case of dopa-responsive dystonia.Semantic proximity Read ↗

Occurrence of GCH1 gene mutations in a group of Indian dystonia patients.Semantic proximity Read ↗

Novel GCH1 mutation in a Brazilian family with dopa-responsive dystonia.Semantic proximity Read ↗

High penetrance and pronounced variation in expressivity of GCH1 mutations in five families with dopa-responsive dystonia.Semantic proximity Read ↗

Genetic and clinical profile of a Brazilian cohort of dopa-responsive dystonia.Semantic proximity Read ↗

GCH1 mutations are common in Serbian patients with dystonia-parkinsonism: Challenging previously reported prevalence rates of DOPA-responsive dystonia.Semantic proximity Read ↗

Novel GCH1 Compound Heterozygosity Mutation in Infancy-Onset Generalized Dystonia.Semantic proximity Read ↗

A case of dopa-responsive dystonia with a novel GCH1 variant c.579 C > G (p.Ile193Met).Semantic proximity Read ↗

Study of a Swiss dopa-responsive dystonia family with a deletion in GCH1Semantic proximity Read ↗

Mutations of GCH1 in Dopa-responsive dystonia.Semantic proximity Read ↗

Inherited dystonias: clinical features and molecular pathways.Semantic proximity Read ↗

Update on dopa-responsive dystonia: locus heterogeneity and biochemical features.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.