Associated Papers
Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.
Bhérer C et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
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
Dose-dependent CHCHD10 dysregulation dictates motor neuron disease severity and alters creatine metabolism.
Harjuhaahto S et al.
Acta Neuropathologica Communications, 2025
ANXA11 Mutations in the FTD Spectrum: A Novel Finding in a Patient With Semantic Variant Primary Progressive Aphasia.
Meng Y et al.
European Journal of Neurology, 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
Characterising the Genetic Landscape of Amyotrophic Lateral Sclerosis: A Catalogue and Assessment of Over 1,000 Published Genetic Variants.
McCann EP et al.
Journal of Neuromuscular Diseases, 2023
Semantic and right temporal variant of FTD: Next generation sequencing genetic analysis on a single-center cohort.
Rossi G et al.
Frontiers in Aging Neuroscience, 2022
Mutational Analysis of Known ALS Genes in an Italian Population-Based Cohort.
Grassano M et al.
Neurology, 2021
Evidence for polygenic and oligogenic basis of Australian sporadic amyotrophic lateral sclerosis.
McCann EP et al.
Journal of Medical Genetics, 2020
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
Examining the relationship between astrocyte dysfunction and neurodegeneration in ALS using hiPSCs.
Halpern M et al.
Neurobiology of Disease, 2019
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 2019
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
A novel CHCHD10 mutation implicates a Mia40-dependent mitochondrial import deficit in ALS.
Lehmer C et al.
Embo Molecular Medicine, 2018
The cellular stress proteins CHCHD10 and MNRR1 (CHCHD2): Partners in mitochondrial and nuclear function and dysfunction.
Purandare N et al.
The Journal of Biological Chemistry, 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
Role of Genetics and Epigenetics in the Pathogenesis of Alzheimer's Disease and Frontotemporal Dementia.
Fenoglio C et al.
Journal of Alzheimer's Disease : Jad, 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
Genetic compendium of 1511 human brains available through the UK Medical Research Council Brain Banks Network Resource.
Keogh MJ et al.
Genome Research, 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
Genetic analysis of CHCHD10 in French familial amyotrophic lateral sclerosis patients.
Teyssou E et al.
Neurobiology of Aging, 2016
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
Reply: A distinct clinical phenotype in a German kindred with motor neuron disease carrying a CHCHD10 mutation.
Bannwarth S 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
CHCHD10 mutations in Italian patients with sporadic amyotrophic lateral sclerosis.
Ronchi D et al.
Brain : a Journal of Neurology, 2015
Reply: CHCHD10 mutations in Italian patients with sporadic amyotrophic lateral sclerosis.
Bannwarth S 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
Unraveling the multifaceted insights into amyotrophic lateral sclerosis: Genetic underpinnings, pathogenesis, and therapeutic horizons.
Sharma R et al.
Mutation Research. Reviews in Mutation Research, 0