Laura Molina‐Porcel

This paper performs a large-scale GWAS meta-analysis of neuropathologic lesions in Alzheimer's disease and related dementias, identifying both known and novel genetic associations.

The paper investigates whether discarded CSF sediments contain potential biomarkers for neurodegenerative diseases by analyzing CSF pellets and identifying disease-relevant proteins.

This study performs APOE-stratified GWAS to uncover genetic mechanisms underlying Alzheimer's disease risk and response to therapies.

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.

This study examines somatic instability of the FGF14 GAA·TTC repeat in SCA27B, finding a cerebellar-specific expansion bias and increased instability in cerebellar regions compared to other brain areas.

This study uses whole-genome sequencing to identify new genetic loci and structural variants associated with progressive supranuclear palsy, including novel signals in APOE and H1/H2 haplotype region variants.

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.

This study identifies two subtypes of idiopathic Parkinson's disease based on mitochondrial complex I deficiency, with distinct molecular and clinical features.

This study shows that long-term CB1R inhibition in Ts65Dn mice improves cognitive function without major side effects, suggesting potential therapeutic value for Down syndrome.

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

The paper replicates and extends findings on circRNA expression in Alzheimer's disease, showing consistent upregulation and downregulation patterns and altered expression in related neurodegenerative conditions.

This paper validates the 2017 MDS-PSP criteria for diagnosing PSP and variant syndromes using neuropathological data, showing higher sensitivity but lower specificity compared to older criteria.