Conceição Bettencourt

The paper identifies shared genetic and epigenetic mechanisms at the MOBP locus linking ALS and PSP, with distinct patterns from MSA.

The paper identifies an oligodendrocyte DNA methylation signature in Alzheimer's disease that is preserved across brain regions and disease stages, and is associated with altered gene expression in OLGs.

The paper investigates DNA methylation changes in FTLD risk genes across different subtypes and finds shared hypomethylation in STX6 and other loci, with significant effects in PSP cases.

The paper compares DNA methylation patterns in white matter of MSA, PD, and PSP to identify shared and disease-specific alterations.

The paper examines gene expression changes in microglia from LRRK2-WT and G2019S knock-in mice treated with zymosan and MLi-2, identifying differential expression patterns and potential PD-related pathways.

This study identifies blood transcript levels of DDIT4 and TRIM13 as potential biomarkers for early-stage Machado-Joseph disease, showing high accuracy in distinguishing carriers from controls.

This study examines epigenetic age acceleration in FTLD patients using DNA methylation clocks in blood and brain tissues, finding significant acceleration in blood samples of FTD and PSP patients.

This study identifies DNA methylation changes in FTLD subtypes, finding OTUD4 as a key gene with consistent expression dysregulation across subtypes.

The paper investigates epigenetic age acceleration in white matter of MSA and control brains, finding that oligodendrocyte proportions influence age acceleration.

This study profiles RNA expression in MSA cerebellar tissue, identifying distinct transcriptional signatures between parkinsonian and cerebellar subtypes, with greater dysregulation observed in the cerebellar subtype.