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Article

A new mutation in the GCH1 gene presents as early-onset Parkinsonism.

Parkinsonism & related disorders - 1 Feb 2009

Momma Kazunari, Funayama Manabu, Li Yuanzhe, Ichinose Hiroshi, Motoyoshi Kazuo, Hattori Nobutaka, Mizuno Yoshikuni, Kamakura Keiko

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Identifiers

PMID: 18511327
DOI: 10.1016/j.parkreldis.2007.12.010

Genes

GCH1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

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A new mutation in the GCH1 gene presents as early-onset Parkinsonism.PMID 18511327Read ↗

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GCH1 variants contribute to the risk and earlier age-at-onset of Parkinson's disease: a two-cohort case-control study.Semantic proximity Read ↗

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Rare GCH1 heterozygous variants contributing to Parkinson’s diseaseSemantic proximity Read ↗

<i>GCH1</i> p.Ser80Asn Confers Risk for Parkinson’s Disease in East Asian PopulationsSemantic proximity Read ↗

A novel EPM2A mutation in a patient with Lafora disease presenting with early parkinsonism symptoms in childhood.Semantic proximity Read ↗

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 ↗

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

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