Varaico: Literature-Extracted Genetic Variants

Gene:CHCHD10
Variant:p.Q82*
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CHCHD10

NM_213720.3:p.Q82*

Associated Papers

Clinical, neuropathological, and biochemical characterization of ALS in a large CHCHD10 R15L family.

Kwan JY et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

41040684 (PubMed )
Supplement: media-4.xlsx › Only_CHCHD10_LoF

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

A systematic review and functional in-silico analysis of genes and variants associated with amyotrophic lateral sclerosis.

Arreola-Aldape CA et al.

Frontiers in Neuroscience, 2025

40589786 (PubMed )
Supplement: Table_4.xlsx › ClinVar_query_results

Genetic and immunopathological analysis of CHCHD10 in Australian amyotrophic lateral sclerosis and frontotemporal dementia and transgenic TDP-43 mice.

McCann EP et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2020

Neuropathologic description of CHCHD10 mutated amyotrophic lateral sclerosis.

Keith JL et al.

Neurology. Genetics, 2020

Twin CHCH Proteins, CHCHD2, and CHCHD10: Key Molecules of Parkinson's Disease, Amyotrophic Lateral Sclerosis, and Frontotemporal Dementia.

Imai Y et al.

International Journal of Molecular Sciences, 2019

CHCHD10 variants in amyotrophic lateral sclerosis: Where is the evidence?

Unknown Author

Annals of Neurology, 2018

Loss of CHCHD10-CHCHD2 complexes required for respiration underlies the pathogenicity of a CHCHD10 mutation in ALS.

Straub IR et al.

Human Molecular Genetics, 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

Investigating the role of ALS genes CHCHD10 and TUBA4A in Belgian FTD-ALS spectrum patients.

Perrone F et al.

Neurobiology of Aging, 2017

MNRR1, a Biorganellar Regulator of Mitochondria.

Grossman LI et al.

Oxidative Medicine and Cellular Longevity, 2017

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

CHCHD10 is not a frequent causative gene in Chinese ALS patients.

Li XL et al.

Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 0

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