Associated Papers
CHCHD2 P14L, found in amyotrophic lateral sclerosis, exhibits cytoplasmic mislocalization and alters Ca2+ homeostasis.
Ikeda A et al.
Pnas Nexus, 2024
39131911 (PubMed )
Supplement: pgae319_supplementary_data.pdf
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
Oligogenic genetic variation of neurodegenerative disease genes in 980 postmortem human brains.
Keogh MJ et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2018
29332010 (PubMed )
Supplement: jnnp-2017-317234supp001.pdf
ALS Genes in the Genomic Era and their Implications for FTD.
Nguyen HP et al.
Trends in Genetics : Tig, 2018
Defining the genetic connection linking amyotrophic lateral sclerosis (ALS) with frontotemporal dementia (FTD).
Lattante S et al.
Trends in Genetics : Tig, 2015
Amyotrophic lateral sclerosis onset is influenced by the burden of rare variants in known amyotrophic lateral sclerosis genes.
Cady J et al.
Annals of Neurology, 2015
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