Sarah J. Tabrizi

This paper adapts Superpixel-ComBat to harmonize unpaired multi-site T1W MRI data in HD, improving image quality and enabling unified VBM analyses across scanners.

This study shows that HTT CAG repeat length within the normal and intermediate range is associated with brain structure and neuropsychiatric risk, challenging the view of CAG repeats as purely categorical.

This study shows disrupting the MSH3 Y245/K246 DNA binding pocket reduces CAG repeat expansion in Huntington's disease models.

The paper describes the generation and validation of C9orf72 repeat expansion knock-in iPSC lines for ALS and FTD research, showing they differentiate into neurons and display disease-related pathologies.

This study estimates the prevalence of HD phenocopy syndromes, finds clinical distinctions are difficult, and uses whole-genome sequencing to identify one ATXN1 expansion in a subcohort.

The paper estimates the frequency of repeat expansion mutations across populations using whole genome sequencing data and finds higher expected prevalence than current reports.

This study shows that reducing MMR gene expression in HD iPSCs slows CAG repeat expansion, suggesting these genes as therapeutic targets for HD.

The paper identifies molecular signatures of inflammation, energy metabolism, and vesicle biology in peripheral tissues of Huntington disease patients, suggesting their potential as biomarkers for clinical trials.

The paper investigates WM loss in premanifest HD, finding early reductions in specific tracts 11 years before onset and correlations with motor scores.

This study uses longitudinal MRI data from Huntington's Disease patients to show complex regional variations in cortical atrophy over time, with some areas showing accelerated atrophy after diagnosis.

This study shows that reducing huntingtin protein levels decreases somatic instability in CAG-expanded loci in both mouse models and human neurons.

The DPUK Data Portal provides secure access to cohort data for dementia research, supporting multi-modal analyses and collaborations across multiple institutions.

This study evaluates neurofeedback training in Huntington’s disease, finding that while it can guide brain activity regulation, there was no robust evidence of clinical benefit or transfer of learning.

The paper evaluates graph thresholding and streamline filtering methods for structural connectome construction in Huntington's disease, finding that SIFT2 filtering improves group difference detection and clinical correlations.

This study compares functional connectome construction strategies in neurodegeneration, finding that principal component-based correction and weighted unthresholded networks best discriminate HD gene carriers from controls.