Bradley F. Boeve

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

The paper analyzes somatic mutations in neurons from FTLD-TDP type C patients and controls, finding extensive low-frequency variants in TARDBP and other genes.

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.

This study uses targeted proteomics to identify protein expression differences in Alzheimer's disease cases with varying clinical and neuropathological features.

The paper decouples TDP-43 and Tau pathology in Alzheimer's disease by analyzing transcriptomic profiles and identifies subtype-specific transcriptional signatures.

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.

The paper identifies TMEM106B fibril accumulation as a shared mechanism in neurodegeneration linked to genetic variants in TMEM106B and GRN.

This study identifies miRNA biomarkers in brain-derived extracellular vesicles from plasma to distinguish Lewy body disease from Alzheimer's disease with high accuracy.

The paper investigates genetic and causal links between post-traumatic stress disorder and rapid-eye-movement sleep behavior disorder using polygenic risk scores, genetic correlation, and Mendelian randomization analyses.

This study examines sex differences in clinical progression of autosomal dominant frontotemporal dementia, finding females show more rapid declines in symptomatic stages and less sensitive NfL prognostic value.

The paper investigates genetic interactions between SNCA and APOE in synucleinopathies using GWAS data and finds no significant epistatic interactions after multiple testing correction.

The paper examines rare missense and loss of function variants in GWAS loci for Alzheimer's disease across families, finding that many families lack identifiable variants beyond APOE-e4.

The paper creates a single-cell atlas of the human primary motor cortex in ALS and FTLD, identifying transcriptional changes and molecular similarities between Betz cells and VENs.

This study identifies and characterizes lysosomal, glial, and neurodegenerative biomarkers in cerebrospinal fluid and plasma from FTD patients, revealing their correlation with disease severity and tissue changes.

This study identifies novel Alzheimer's disease risk loci by analyzing multi-ancestry GWAS data from diverse populations, highlighting the importance of including underrepresented groups in genetic research.

This study examines the association of NPC1 variants with Parkinson's disease, REM-sleep behavior disorder, and dementia with Lewy bodies in European cohorts and finds no significant associations.

This study identifies blood-based biomarkers associated with Alzheimer's disease genetic risk variants in a large cohort of healthy adults, showing effects from early adulthood and sex-specific patterns.

This study shows that TDP-43 represses a cryptic exon in UNC13A, and genetic variants associated with FTD/ALS increase cryptic exon inclusion when TDP-43 is dysfunctional.

This study identifies five RBD risk loci through genome-wide association and finds differential expression of SNCA-AS1 and SCARB2 in brain regions.

This study investigates the association between GBA variants and risk for isolated REM sleep behavior disorder (iRBD) and conversion to neurodegeneration, finding higher prevalence and increased conversion rates in carriers.

This study identifies SNCA risk variants specific to RBD and overt synucleinopathies, finding distinct associations and opposite effects at the 3' end of SNCA.

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.