Eliana Marisa Ramos

The paper identifies the CSF YWHAG:NPTX2 ratio as a biomarker for predicting clinical severity and phenoconversion in FTLD, showing strong correlation with disease progression and improved trial design potential.

This study identifies distinct tau filament structures in FTLD-tau caused by the MAPT S305I mutation, revealing a unique 4-layer architecture and potential RNA-like polyanion binding.

MoVUS, a random forest model, classifies variants of uncertain significance in Alzheimer's and neurological disorders with high accuracy, prioritizing potentially pathogenic variants.

This study identifies genetic risk factors for FTLD-TDP subtypes using whole-genome sequencing and meta-analysis across multiple cohorts.

This study examines sex differences in clinical progression of autosomal dominant frontotemporal dementia, finding females show more rapid declines in symptomatic stages and less sensitive NfL prognostic value.

The paper investigates C9orf72 expansion carriers using radiogenomics to link peripheral blood transcriptomics with thalamic atrophy and clinical impairment, finding global transposable element de-repression and associations between C9orf72 expression and disease severity.

This study identifies TSC1 loss-of-function as a risk factor for tauopathies by promoting tau acetylation and impairing autophagy-mediated tau clearance.

The paper investigates genetic risk factors for psychiatric and cognitive symptoms in Huntington’s Disease using polygenic risk scores and finds associations between specific psychiatric risk scores and corresponding symptoms.

This study shows that the length of uninterrupted CAG repeats, not the encoded polyglutamine segment, determines Huntington's disease onset, and DNA maintenance genes modify this process.