Anthony Edward Lang

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

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.

This study uses exome sequencing to identify genetic variants in dystonia patients, finding 137 likely pathogenic variants in 51 genes and expanding the known phenotypic spectrum of dystonia-related genes.

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

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

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

The paper introduces a visual quality control protocol for FreeSurfer cortical parcellations using VisualQC, showing it effectively detects errors and has reliable inter-rater agreement.

The paper identifies mitochondrial DNA heteroplasmy as a marker distinguishing disease manifestation in PINK1/PRKN mutation carriers.

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.

This study introduces a modified Real-Time Quaking-induced Conversion assay to assess alpha-synuclein seeding activity in multiple system atrophy, revealing heterogeneity in seeding behavior across brain regions.

This paper introduces a Bayesian 3D U-Net for WMH segmentation that provides uncertainty estimates and is robust to imaging variations, achieving high accuracy and efficiency.

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.

The paper introduces CNN-based models for segmenting intracranial and ventricular volumes in neuroimaging data, showing improved accuracy and efficiency compared to existing methods.

This study validates new bioinformatic tools to identify expanded repeats, discovering a novel intronic pentamer expansion in RFC1 causing CANVAS.