Luc Pregent

The paper creates a single-cell atlas of the human primary motor cortex in ALS and FTLD, identifying transcriptional changes and molecular similarities between Betz cells and VENs.

The paper examines transcriptome and epigenome changes in C9orf72 repeat expansion-associated ALS and FTD, showing distinct gene expression patterns in different cell types and brain regions.

The paper identifies dark and camouflaged gene regions in the human genome, shows how long-read sequencing reduces their prevalence, and applies an algorithm to uncover disease-relevant variants in Alzheimer's Disease Sequencing Project data.