Varaico: Literature-Extracted Genetic Variants

Gene:CHCHD10
Variant:p.P23T
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CHCHD10

NM_213720.3:p.P23T

Associated Papers

Impacts of pathogenic mutations on the structures of the CHCHD10 monomer: An AlphaFold3 study linked to the generation of conformational ensembles.

Akkum FI et al.

International Journal of Biological Macromolecules, 2025

Neuropathologic description of CHCHD10 mutated amyotrophic lateral sclerosis.

Keith JL et al.

Neurology. Genetics, 2020

A novel CHCHD10 mutation implicates a Mia40-dependent mitochondrial import deficit in ALS.

Lehmer C et al.

Embo Molecular Medicine, 2018

[A case of mitochondrial disease with multiple mitochondrial DNA deletions suspected amyotrophic lateral sclerosis-frontotemporal dementia].

Ishikawa T et al.

Rinsho Shinkeigaku = Clinical Neurology, 2018

Mutation Screening of the CHCHD10 Gene in Chinese Patients with Amyotrophic Lateral Sclerosis.

Zhou Q et al.

Molecular Neurobiology, 2017

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

Penttilä S et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2017

MNRR1, a Biorganellar Regulator of Mitochondria.

Grossman LI et al.

Oxidative Medicine and Cellular Longevity, 2017

iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Wang M et al.

Scientific Reports, 2016

27527004 (PubMed )
Supplement: srep31321-s3.xls › NovelVar

Intrafamilial clinical variability in individuals carrying the CHCHD10 mutation Gly66Val.

Pasanen P et al.

Acta Neurologica Scandinavica, 2016

Reply: High prevalence of CHCHD10 mutations in patients with frontotemporal dementia from China.

Bannwarth S et al.

Brain : a Journal of Neurology, 2016

New ALS-Related Genes Expand the Spectrum Paradigm of Amyotrophic Lateral Sclerosis.

Sabatelli M et al.

Brain Pathology (zurich, Switzerland), 2016

Analysis of the CHCHD10 gene in patients with frontotemporal dementia and amyotrophic lateral sclerosis from Spain.

Dols-Icardo O et al.

Brain : a Journal of Neurology, 2015

Mutation analysis of CHCHD10 in different neurodegenerative diseases.

Zhang M et al.

Brain : a Journal of Neurology, 2015

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