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Article

Two novel mutations in conserved codons indicate that CHCHD10 is a gene associated with motor neuron disease

9 Aug 2014

Abstract excerpt

Two novel mutations in conserved codons indicate that CHCHD10 is a gene associated with motor neuron disease

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Identifiers

PMID: 25113787
DOI: 10.1093/brain/awu227

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Related research

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Two novel mutations in conserved codons indicate that CHCHD10 is a gene associated with motor neuron diseasePMID 25113787Read ↗

CHCHD10 is involved in the development of Parkinson's disease caused by CHCHD2 loss-of-function mutation p.T61ISemantic proximity Read ↗

CHCHD10 mutations and motor neuron disease: the distribution in Finnish patients.Semantic proximity Read ↗

Mutations in the CHCHD10 gene are a common cause of familial amyotrophic lateral sclerosisSemantic proximity Read ↗

Mutation analysis of<i>CHCHD10</i>in different neurodegenerative diseasesSemantic proximity Read ↗

Late onset spinal motor neuronopathy is caused by mutation in CHCHD10.Semantic proximity Read ↗

A distinct clinical phenotype in a German kindred with motor neuron disease carrying aCHCHD10mutationSemantic proximity Read ↗

Evolving neuromuscular phenotype in a patient with a heterozygous CHCHD10 p.G66V mutation.Semantic proximity Read ↗

High prevalence ofCHCHD10mutation in patients with frontotemporal dementia from ChinaSemantic proximity Read ↗

CHCHD10 is not a frequent causative gene in Chinese ALS patients.Semantic proximity Read ↗

A nonsense mutation in CHCHD2 in a patient with Parkinson disease.Semantic proximity Read ↗

CHCHD10 mutations p.R15L and p.G66V cause motoneuron disease by haploinsufficiency.Semantic proximity Read ↗

Genetic analysis of CHCHD10 in French familial amyotrophic lateral sclerosis patients.Semantic proximity Read ↗

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