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

Novel GCH1 Compound Heterozygosity Mutation in Infancy-Onset Generalized Dystonia.

Neuropediatrics - 1 Aug 2018

Flotats-Bastardas Marina, Hebert Eva, Raspall-Chaure Miquel, Munell Francina, Macaya Alfons, Lohmann Katja

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 Child, Preschool
Share to Diagnosis, Differential
Share to Diagnostic Errors
Share to Dystonic Disorders

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to GTP Cyclohydrolase

Share to Heterozygote

Share to Mutation

Share to Phenotype

Source

Identifiers

PMID: 29471552
DOI: 10.1055/s-0038-1626709

Genes

GCH1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 23 Oct 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Novel GCH1 Compound Heterozygosity Mutation in Infancy-Onset Generalized Dystonia.PMID 29471552Read ↗

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

Heterozygous pathogenic variation in GCH1 associated with treatable severe spastic tetraplegia.Semantic proximity Read ↗

GCH1 heterozygous mutation identified by whole-exome sequencing as a treatable condition in a patient presenting with progressive spastic paraplegia.Semantic proximity Read ↗

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

Generalized dystonia in a patient with a novel mutation in the GLUD1 gene.Semantic proximity Read ↗

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

Pediatric Onset of Generalized Dystonia, Cognitive Impairment, and Dysmorphic Features in a Patient Carrying Compound Heterozygous GNAL Mutations.Semantic proximity Read ↗

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

A de novo mutation in SMC1A gene identified in a Chinese infant with nonclassical Cornelia de Lange syndrome and drug-resistant epilepsy.Semantic proximity Read ↗

Common and rare GCH1 variants are associated with Parkinson's diseaseSemantic proximity Read ↗

A new mutation in the GCH1 gene presents as early-onset Parkinsonism.Semantic proximity Read ↗

Generalized Dystonia as a Prominent Feature in a Case of NUS1 Gene Mutation.Semantic proximity Read ↗

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