Léna Guillot‐Noël

The paper reports a novel neurodevelopmental disorder caused by a frameshift mutation in ATG9B, and characterizes its effects using cell models and knock-in mice.

The paper examines MS patient macrophages and finds they exhibit a pro-inflammatory transcriptomic and metabolic profile, suggesting intrinsic immune cell memory and potential therapeutic targets.

The paper reports a detailed genetic and genomic map of multiple sclerosis, identifying susceptibility genes in peripheral immune cells and brain-resident microglia.

The paper identifies low-frequency coding variants contributing to multiple sclerosis risk using a large case-control study.