Ekaterina A. Rogaeva

Microvascular pathology of proteotoxic endothelial signature characterizes Progressive Supranuclear Palsy

This study identifies microvascular pathology and endothelial proteotoxicity as key features of Progressive Supranuclear Palsy through neuropathological and single-nucleus RNA-sequencing analysis.

Genome-wide association study of copy number variations in Parkinson's disease

This study conducts a genome-wide association study of copy number variations in Parkinson's disease, identifying a significant PRKN deletion but limited replication in an independent dataset.

Single-nucleus transcriptome atlas of orbitofrontal cortex in amyotrophic lateral sclerosis with a deep learning-based decoding of alternative polyadenylation mechanisms

The paper constructs a single-nucleus transcriptome atlas of the orbitofrontal cortex in ALS and identifies cell-type-specific transcriptional changes, introducing a deep learning model to analyze alternative polyadenylation.

Spliformer-V2 enables multi-tissue prediction and interpretation of splice-altering genetic variants

Spliformer-V2 predicts and interprets tissue-specific effects of splice-altering variants, identifying disease-relevant genes and therapeutic targets in ALS.

Lewy-MSA hybrid fold drives distinct neuronal a-synuclein pathology

The paper identifies a Lewy-MSA hybrid fold of α-synuclein in atypical MSA, linking distinct filament structures to neuronal versus oligodendroglial pathologies.

Deciphering Distinct Genetic Risk Factors for FTLD-TDP Pathological Subtypes via Whole-Genome Sequencing

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

Investigation of the HLA locus in autopsy-confirmed progressive supranuclear palsy

This study investigates the HLA locus in PSP patients, finding associations between specific HLA alleles and disease risk, suggesting an autoimmune mechanism.

C9orf72 expansion creates the unstable folate-sensitive fragile site FRA9A

This paper shows C9orf72 expansions create a folate-sensitive fragile site FRA9A, leading to chromosomal instability and immune responses in patient cells and mice.

4R-Tau seeding activity unravels molecular subtypes in patients with Progressive Supranuclear Palsy

The paper investigates molecular subtypes in PSP by analyzing tau seeding activity and identifies immune-related pathways associated with disease progression.

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.

Investigating the Contribution of White Matter Hyperintensities and Cortical Thickness to Empathy in Neurodegenerative and Cerebrovascular Diseases

This study examines the relationship between white matter hyperintensities, cortical thickness, and empathy in neurodegenerative and cerebrovascular diseases, finding associations with specific brain regions and demographic factors.

Genome-wide association studies of LRRK2 modifiers of Parkinson's disease

This study identifies genetic modifiers of LRRK2 mutations in Parkinson's disease, finding a significant variant in CORO1C and a polygenic risk score effect on penetrance.

Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into the complex genetic architecture

This paper identifies five new genetic risk loci for Lewy body dementia through whole-genome sequencing and shows shared risk profiles with Alzheimer’s and Parkinson’s disease.

Analysis of brain atrophy and local gene expression in genetic frontotemporal dementia

The paper investigates the relationship between gene expression and brain atrophy in genetic frontotemporal dementia, finding correlations between atrophy patterns and specific gene sets related to vascular, glial, and neuronal functions.

Heritability and genetic variance of dementia with Lewy bodies

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.

Uncovering the heterogeneity and temporal complexity of neurodegenerative diseases with Subtype and Stage Inference

This paper introduces SuStaIn, a machine learning method that identifies disease subtypes and their temporal progression from cross-sectional data, improving prediction of diagnostic conversion in neurodegenerative diseases.

Analysis of shared heritability in common disorders of the brain

Genetic correlations across 25 brain disorders (215,683 cases) reveal broad psychiatric common-variant sharing, largely distinct neurological disorders, and migraine as the only significant cross-category link.

CXCR4 involvement in neurodegenerative diseases

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.

Immune-related genetic enrichment in frontotemporal dementia

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.

The relationship between brain atrophy and cognitive-behavioral symptoms in retired Canadian football players with multiple concussions

This study examines the link between multiple concussions and brain atrophy in retired Canadian football players, finding greater hippocampal atrophy and poorer verbal memory performance compared to controls.