Alberto Lleó

The paper examines s-KL/m-KL transcript ratio and protein localization in the CNS and their association with AD progression across species.

The paper analyzes exome data from 22,319 individuals to identify rare CNVs and 22q11.21 dosage as risk factors for Alzheimer's disease.

The paper develops a multivariate methylation risk score using blood DNA methylation data to predict dementia risk and cognitive impairment in Alzheimer's and Parkinson's disease cohorts.

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 identifies high-priority missense variants in SORL1 associated with increased Alzheimer's Disease risk and earlier onset, suggesting clinical counseling considerations for carriers.

This paper performs a large meta-analysis of GWAS in dementia with Lewy bodies, identifying sex-specific genetic risk signals and highlighting the need for larger cohorts.

The paper identifies rare damaging variants in ATP8B4 and ABCA1 as novel risk factors for Alzheimer's Disease using exome sequencing data from 32,558 individuals.

This study investigates the association between Klotho heterozygosity and Alzheimer's disease risk in APOE4 carriers using multiple AD endophenotypes from large cohorts.

This study performs GWAS on quantitative AD biomarkers and cognitive traits, identifying new loci associated with memory performance and cognitive decline.

The paper conducts GWAS on CSF Alzheimer's disease biomarkers, identifying genetic associations with NF-L, YKL-40, and Ng levels.

The paper conducts a genome-wide association study (GWAS) on Alzheimer’s disease CSF biomarkers in the EMIF-AD dataset, identifying novel genetic signals and confirming existing associations.

The paper characterizes transcriptional changes in ALS motor cortex, identifying microglial activation and synapse-related pathway alterations as key features.

This paper reports six novel genetic variants associated with Alzheimer's disease risk and demonstrates the utility of polygenic risk scores for risk stratification and age at onset prediction.

The paper evaluates the agreement between 18F-Florbetapir PET imaging and CSF biomarkers measured on the Lumipulse G System, finding good diagnostic agreement for Aβ1-42, tTau, pTau, and their ratios with Aβ1-42.

This study identifies genetic variants in the MS4A gene cluster associated with higher sTREM2 levels and reduced Alzheimer disease risk, suggesting MS4A4A regulates sTREM2 and contributes to AD pathogenesis.

This study estimates the heritability of dementia with Lewy bodies (DLB) and finds it to be higher than previous estimates, with low variance explained by polygenic risk scores from Parkinson's or Alzheimer's disease.

The paper identifies a genetic variant near CXCR4 associated with increased risk for PSP and PD, showing dysregulation of CXCR4 and microglia-related genes in neurodegenerative diseases.

This study identifies genetic overlaps between frontotemporal dementia and immune-mediated diseases, finding strong enrichment with rheumatoid arthritis and moderate enrichment with other immune conditions.