Bertrand Fontaine

Skeletal muscle from individuals at elevated genetic risk for ALS/FTD undergoes progressive metabolic reprogramming far before disease onset.

The paper analyzes the genetic architecture of MS patients in the OFSEP-HD cohort, identifies ancestral clusters, and presents a synthetic dataset for data sharing.

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.

This study identifies Vangl2 as a regulator of MuSK signaling in neuromuscular synapse formation, showing its role in AChR accumulation and NMJ stability.

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.