Miguel Medina

Genetic dissection of hippocampal sclerosis of ageing using magnetic resonance imaging surrogates

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.

Identification of a sex-specific genetic signature in dementia with Lewy bodies: a meta-analysis of genome-wide association studies

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.

Mendelian randomization confirms the role of Y-chromosome loss in Alzheimer's Disease etiopathogenesis in males

This study uses Mendelian randomization to show that genetic risk for mosaic loss of chromosome Y (mLOY) increases AD risk in males, but not females, suggesting mLOY directly contributes to AD pathogenesis.

APOE ε4 effects on hippocampal atrophy in the healthy elderly reflect future cognitive decline

This study shows that APOE ε4's effect on hippocampal atrophy in healthy elderly is linked to future cognitive decline rather than genotype alone.

Predicting the future development of mild cognitive impairment in the cognitively healthy elderly

The paper identifies reduced grey matter density in the left entorhinal cortex as a biomarker for predicting mild cognitive impairment in cognitively healthy elderly individuals.

Autosomal Recessive Alzheimer disease (arAD): homozygosity mapping of genomic regions containing arAD loci

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

Common variants in Alzheimer's disease: Novel association of six genetic variants with AD and risk stratification by polygenic risk scores

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.