Jennifer S. Yokoyama

The paper identifies potential diagnostic biomarkers for frontotemporal lobar degeneration subtypes using cerebrospinal fluid proteomics.

The paper identifies the CSF YWHAG:NPTX2 ratio as a biomarker for predicting clinical severity and phenoconversion in FTLD, showing strong correlation with disease progression and improved trial design potential.

The paper identifies PQLC2 as a lysosomal pH regulator that affects tau homeostasis through a CRISPRi screen in iPSC-derived neurons.

This paper evaluates cross-ancestry polygenic risk scores (PRS) for Alzheimer's disease across multi-ethnic populations, finding improved predictive accuracy in non-European groups.

The paper identifies molecular subtypes of neurons in the frontoinsular cortex and links specific gene expression patterns to neuronal vulnerability in FTD.

This paper identifies a posterior predominant amyloid PET binding pattern in multiple cohorts, showing its clinical and biological relevance and suggesting the need for more nuanced analysis methods.

The paper identifies NINL as a modulator of tau aggregation through integrative genomic and functional analyses linking it to proteostasis dysfunction in FTD and AD.

This study identifies genetic variants associated with Alzheimer's disease and frontotemporal dementia in admixed Latin American populations using whole-genome sequencing and ancestry analysis.

This paper constructs a genomic-informed dementia risk score combining genetic and clinical factors and finds that most memory clinic patients have at least one high-risk indicator, with higher burden linked to increased dementia risk.

MoVUS, a random forest model, classifies variants of uncertain significance in Alzheimer's and neurological disorders with high accuracy, prioritizing potentially pathogenic variants.

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

This paper reviews 123 neurodegenerative disease GWAS and finds 82% focus on European ancestry, with non-European studies identifying fewer risk loci.

The paper identifies an expansion of interferon-responsive T cells in early-onset Alzheimer's disease using single-cell RNA-sequencing and ddPCR data.

The paper identifies a C9orf72 gene network correlated with cortical thickness in C9-FTD and implicates vulnerable cell types.

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 study conducts a multi-ancestry GWAS meta-analysis of Alzheimer's disease, identifies two novel loci, and assesses polygenic risk score generalizability across populations.

This study identifies 49 genetic loci associated with sleep apnoea risk using multi-trait GWAS, with 29 replicated in a large cohort, and finds genetic correlations with several complex traits.

The paper investigates C9orf72 expansion carriers using radiogenomics to link peripheral blood transcriptomics with thalamic atrophy and clinical impairment, finding global transposable element de-repression and associations between C9orf72 expression and disease severity.

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.

The paper uses scRNA-seq to analyze peripheral blood mononuclear cells from MAPT carriers and controls, finding reduced CX3CR1 and nonclassical monocytes associated with tau pathology.

This study identifies TSC1 loss-of-function as a risk factor for tauopathies by promoting tau acetylation and impairing autophagy-mediated tau clearance.

The paper identifies rare variants in TET2 associated with early-onset Alzheimer's disease and frontotemporal dementia, highlighting both coding and non-coding variants as risk factors.

Genome sequencing for early-onset dementia identified genetic variants in 50% of patients, including pathogenic variants and moderate penetrance alleles, supporting an oligogenic model.

This study identifies genetic variants and networks associated with ALS using GWAS data, revealing novel loci and functional sub-networks linked to disease.

The paper identifies genetic variants associated with Alzheimer's disease and cardiovascular risk factors, showing lipid-related enrichment and pleiotropy beyond APOE.

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.

This study evaluates whether a polygenic hazard score (PHS) can enhance the prediction of amyloid and tau deposition and progression to Alzheimer’s dementia when combined with biomarkers in nondemented individuals.

This paper develops and validates a polygenic hazard score to predict age-specific Alzheimer's disease risk using genetic data from multiple cohorts.