Associated Papers
The genetics of motor neuron disease in New Zealand.
Mrkela M et al.
Journal of the Neurological Sciences, 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
Proteome-scale characterisation of motif-based interactome rewiring by disease mutations.
Kliche J et al.
Molecular Systems Biology, 2024
TARDBP Mutations in Facial-Onset Sensory and Motor Neuronopathy.
Picher-Martel V et al.
Neurology. Genetics, 2024
Fibril structures of TFG protein mutants validate the identification of TFG as a disease-related amyloid protein by the IMPAcT method.
Rosenberg GM et al.
Pnas Nexus, 2023
Parkinson's Disease, Parkinsonisms, and Mitochondria: the Role of Nuclear and Mitochondrial DNA.
Legati A et al.
Current Neurology and Neuroscience Reports, 2023
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
OMA1 mediates local and global stress responses against protein misfolding in CHCHD10 mitochondrial myopathy.
Shammas MK et al.
The Journal of Clinical Investigation, 2022
TDP-43 and PINK1 mediate CHCHD10S59L mutation-induced defects in Drosophila and in vitro.
Baek M et al.
Nature Communications, 2021
Meta-analysis of the association between CHCHD10 Pro34Ser variant and the risk of amyotrophic lateral sclerosis.
Yang B et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 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
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 2019
Comparison of the clinical and genetic features of amyotrophic lateral sclerosis across Cuban, Uruguayan and Irish clinic-based populations.
Ryan M et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 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
Identification of rare genetic variants in Italian patients with dementia by targeted gene sequencing.
Bartoletti-Stella A et al.
Neurobiology of Aging, 2018
A novel CHCHD10 mutation implicates a Mia40-dependent mitochondrial import deficit in ALS.
Lehmer C et al.
Embo Molecular Medicine, 2018
CHCHD10 mutations p.R15L and p.G66V cause motoneuron disease by haploinsufficiency.
Brockmann SJ et al.
Human Molecular Genetics, 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
CHCHD10 mutations in patients with amyotrophic lateral sclerosis in Mainland China.
Shen S et al.
Neurobiology of Aging, 2017
Genetic analysis of CHCHD2 and CHCHD10 in Italian patients with Parkinson's disease.
Rubino E et al.
Neurobiology of Aging, 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
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
ALS: Recent Developments from Genetics Studies.
Therrien M et al.
Current Neurology and Neuroscience Reports, 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
Mitochondrial Proteins Containing Coiled-Coil-Helix-Coiled-Coil-Helix (CHCH) Domains in Health and Disease.
Modjtahedi N et al.
Trends in Biochemical Sciences, 2016
Screening for CHCHD10 mutations in a large cohort of sporadic ALS patients: no evidence for pathogenicity of the p.P34S variant.
Marroquin N et al.
Brain : a Journal of Neurology, 2016
CHCHD10 Pro34Ser is not a highly penetrant pathogenic variant for amyotrophic lateral sclerosis and frontotemporal dementia.
Abdelkarim S et al.
Brain : a Journal of Neurology, 2016
CHCHD10 mutations promote loss of mitochondrial cristae junctions with impaired mitochondrial genome maintenance and inhibition of apoptosis.
Genin EC et al.
Embo Molecular Medicine, 2016
The genetics of amyotrophic lateral sclerosis: current insights.
Alsultan AA et al.
Degenerative Neurological and Neuromuscular Disease, 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: Is CHCHD10 Pro34Ser pathogenic for frontotemporal dementia and amyotrophic lateral sclerosis?
Bannwarth S et al.
Brain : a Journal of Neurology, 2015
Is CHCHD10 Pro34Ser pathogenic for frontotemporal dementia and amyotrophic lateral sclerosis?
Dobson-Stone C et al.
Brain : a Journal of Neurology, 2015
The CHCHD10 P34S variant is not associated with ALS in a UK cohort of familial and sporadic patients.
Wong CH et al.
Neurobiology of Aging, 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