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Article

CHCHD10 mutations and motor neuron disease: the distribution in Finnish patients.

Journal of neurology, neurosurgery, and psychiatry - 1 Mar 2017

Penttilä Sini, Jokela Manu, Saukkonen Anna Maija, Toivanen Jari, Palmio Johanna, Lähdesmäki Janne, Sandell Satu, Shcherbii Mariia, Auranen Mari, Ylikallio Emil, Tyynismaa Henna, Udd Bjarne

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 27810918
DOI: 10.1136/jnnp-2016-314154

Genes

CHCHD10

Provenance

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

Related research

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CHCHD10 mutations and motor neuron disease: the distribution in Finnish patients.PMID 27810918Read ↗

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

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

Screening of CHCHD10 in a French cohort confirms the involvement of this gene in frontotemporal dementia with amyotrophic lateral sclerosis patients.Semantic proximity Read ↗

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

CHCHD2 and CHCHD10-related neurodegeneration: molecular pathogenesis and the path to precision therapy.Semantic proximity Read ↗

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

Intrafamilial clinical variability in individuals carrying the CHCHD10 mutation Gly66Val.Semantic proximity Read ↗

Screening forCHCHD10mutations in a large cohort of sporadic ALS patients: no evidence for pathogenicity of the p.P34S variant: Table 1Semantic proximity Read ↗

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

CHCH10 mutations in an Italian cohort of familial and sporadic amyotrophic lateral sclerosis patients.Semantic proximity Read ↗

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

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