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
ALS Identified: two-year findings from a sponsored ALS genetic testing program.
Goutman SA et al.
Annals of Clinical and Translational Neurology, 2024
39044379 (PubMed )
Supplement: ACN3-11-2201-s003.xlsx › Novel_variants_
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
37638449 (PubMed )
Supplement: jnd-10-jnd230148-s001.xlsx › variant_list
Neuropathologic description of CHCHD10 mutated amyotrophic lateral sclerosis.
Keith JL et al.
Neurology. Genetics, 2020
CHCHD10 variants in amyotrophic lateral sclerosis: Where is the evidence?
Unknown Author
Annals of Neurology, 2018
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