Neill R. Graff‐Radford

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.

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

The paper develops a tangle maturity scale to evaluate Alzheimer's disease pathology using tau antibodies and machine learning, showing early tau modifications precede advanced ones.

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 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 four novel genetic loci associated with soluble TREM2 levels in CSF through GWAS and provides functional validation of their roles in Alzheimer's disease.

The paper characterizes phosphorylated tau fluid biomarker sites in postmortem Alzheimer's disease brains, showing they correspond to earlier neurofibrillary tangle maturity levels.

The paper describes MRI and PET protocols used in the DIAN study to investigate preclinical Alzheimer's disease and reports key imaging findings.

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.

The paper identifies SERPINA5 as a novel tau binding partner in Alzheimer's disease by analyzing hippocampal gene expression and neurofibrillary tangles.