David S. Knopman

Cerebrospinal fluid YWHAG:NPTX2 ratio predicts clinical severity and future phenoconversion in frontotemporal lobar degeneration

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.

TDP-43 subtypes shape transcriptomic signatures in Alzheimer's disease

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

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.

Single-cell profiling of the human primary motor cortex in ALS and FTLD

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.

Polygenic effects on the risk of Alzheimer's disease in the Japanese population

This paper evaluates the polygenic risk score for Alzheimer's disease in Japanese individuals, showing its utility despite genetic differences from European populations.

Assessment of white matter hyperintensity severity using multimodal MRI in Alzheimer's Disease

This study assesses white matter hyperintensity severity using multimodal MRI in Alzheimer's Disease by analyzing signal measures from different MRI contrasts and their associations with clinical variables.

TDP-43 represses cryptic exon inclusion in FTD/ALS gene UNC13A

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.

Plasma amyloid β levels are driven by genetic variants near APOE, BACE1, APP, PSEN2: A genome-wide association study in over 12,000 non-demented participants

Spread of pathological tau proteins through communicating neurons in human Alzheimer’s disease

This study uses an epidemic spreading model to show that tau spreads through neuronal connections in Alzheimer's disease, with beta-amyloid accelerating this process in some brain regions.

A blood-based signature of cerebral spinal fluid Aβ1-42 status

This paper develops a blood-based machine learning model to predict cerebral spinal fluid Aβ1-42 levels, showing high accuracy in identifying Alzheimer's disease risk.