Alberto Rábano

The paper analyzes copy number variants in a Spanish dementia cohort and identifies potential novel genes associated with ADRD but finds no genome-wide significant associations.

This paper introduces 3TRS, a targeted RNA sequencing method to quantify HTT transcripts in HD models, revealing cryptic polyadenylation linked to somatic instability and CAG repeat purity.

The paper investigates the association between Alzheimer's disease SNPs and hippocampal sclerosis of aging using MRI surrogates in a cohort of non-demented individuals.

The paper performs a GWAS on PSP in the Iberian population, replicates known risk variants, and identifies a novel locus in NFASC/CNTN2 associated with oligodendrocyte and myelination processes.

The paper introduces Path2MR, a pipeline for 3D histology reconstruction without MRI, revealing distinct tau and amyloid-beta pathology gradients along the hippocampal axis in Alzheimer's Disease.

This study shows hippocampal sclerosis of aging (HS) causes detectable hippocampal volume changes on MRI more than a decade before death, independent of age and Alzheimer's Disease burden.

The paper develops a histological staging system for hippocampal sclerosis (HS) and shows its correlation with disease duration, cognitive performance, and MRI findings.

This study shows that reducing NOX4 in neurons alleviates tau-related pathology and cognitive decline in a mouse model of tauopathy.

This study identifies increased homozygosity in Alzheimer's disease cases and detects a candidate recessive variant associated with amyloid metabolism.