Associated Papers
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 › ClinGen_VariantClassification
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
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
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