Anne Rosser

Cell-specific transcription dysregulation in human Huntington's disease-positive developing striatum

The paper identifies transcriptional changes in fetal HD striatal tissue using single-cell RNA sequencing, revealing molecular features of HD pathology present during early development.

Differences in white matter detected by ex vivo 9.4T MRI are associated with axonal changes in the R6/1 model of Huntington's Disease

The paper uses MRI and histological analyses to show axonal and myelin changes in a Huntington's Disease mouse model, identifying FR as a potential MRI biomarker for WM microstructure changes.

Huntington's disease phenocopy syndromes revisited: a clinical comparison and next-generation sequencing exploration

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.

Defining the Limits of hPSC Derived Models: hPSC-MSNs Fail to Recapitulate Authentic Striatal Identity

This study shows that hPSC-derived medium spiny neurons (hPSC-MSNs) do not fully replicate the epigenetic and transcriptional features of authentic fetal MSNs, highlighting limitations in their fidelity.

Huntington's disease age at motor onset is modified by the tandem hexamer repeat in TCERG1

The paper identifies a tandem hexamer repeat in TCERG1 that modifies age at motor onset in Huntington's disease, explaining the effect of a previously associated SNP.

FAN1 nuclease activity affects CAG expansion and age at onset of Huntington's disease

The paper identifies FAN1 nuclease activity as a modifier of CAG expansion and age at onset in Huntington's disease through exome sequencing and functional validation.

Mutation-related apparent myelin, not axon density, drives white matter differences in premanifest Huntington's disease: Evidence from in vivo ultra-strong gradient MRI

This study uses ultra-strong gradient MRI to show that myelin changes, not axon density, are linked to premanifest Huntington's disease, with mutation size correlating with myelin levels.

The timing and impact of psychiatric, cognitive and motor abnormalities in Huntington's disease

This study examines the prevalence, timing, and functional impact of psychiatric, cognitive, and motor symptoms in Huntington's disease gene carriers using clinical data from a large cohort.

Multi-compartment analysis of the complex gradient-echo signal quantifies myelin breakdown in premanifest Huntington's disease

This study uses multi-compartment MRI signal analysis to quantify myelin breakdown in premanifest Huntington's disease, finding reduced myelin water fraction and age-related executive function decline.

Drumming motor sequence training induces myelin remodelling in Huntington's disease: a longitudinal diffusion MRI and quantitative magnetization transfer study

This study examines if drumming training induces myelin remodelling in Huntington's disease patients using diffusion MRI and qMT imaging, finding increased MPF in specific white matter regions post-training.