Article

Somatic mutations in ALS genes in the motor cortex of sporadic ALS patients

2025-04-05

Abstract excerpt

Amyotrophic lateral sclerosis (ALS) is characterized by the progressive degeneration of cortical and spinal motor neurons. Mendelian germline mutations often cause familial ALS (fALS) but only approximately ten percent of sporadic ALS cases (sALS). We leveraged DNA and single cell RNA-sequencing data from autopsy tissue to explore the presence of somatic mosaic variants in sALS cases. Deep targeted panel sequencin...

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Literature Corpus work: 579a6224-f48b-5ce8-bdf6-bc8affc5e8df
DOI: 10.1101/2025.03.31.646375

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