Gaëlle Bruneteau

Somatic instability of the C9orf72 repeat expansion in blood differs between patients with amyotrophic lateral sclerosis or frontotemporal dementia.

This study uses optical genome mapping to analyze C9orf72 repeat expansion instability in blood from ALS and FTD patients, finding age-dependent differences in repeat size dynamics between conditions.

Progressive muscle metabolic reprogramming in asymptomatic ALS gene mutation carriers

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

Integrative Analysis of Drug-Gene Expression Signatures in Human Pluripotent Stem Cells Identifies Novel Drug Candidates for ALS and Monogenic Diseases

The paper identifies novel drug candidates for ALS and monogenic diseases by analyzing drug-induced gene expression changes in human pluripotent stem cells using RNA sequencing.