Maria Carmela Tartaglia

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 paper uses machine learning to stratify genetic frontotemporal dementia patients into subtypes and provides progression scores that improve trial enrichment efficiency.

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

The paper develops an MRI-based machine learning classifier to identify presymptomatic C9orf72 carriers at high risk of disease onset within two years.

The paper shows that white matter hyperintensities (WMHs) appear before other biomarkers in GRN-related frontotemporal dementia, suggesting they are early indicators of disease progression.

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.

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.

This study investigates the association between cerebellar and subcortical atrophy and neuropsychiatric symptoms in genetic frontotemporal dementia, finding significant differences across genetic mutations.

This study shows that atrophy patterns in bvFTD are shaped by both global brain network structure and local transcriptomic vulnerability from disease-related genes.

This study improves FreeSurfer's cortical thickness estimation in patients with cerebral small vessel disease and stroke by applying correction procedures, leading to better segmentation and cognitive association results.

This study examines the relationship between white matter hyperintensities and neuropsychiatric symptoms in Alzheimer’s disease and mild cognitive impairment, finding significant longitudinal associations with irritability and agitation.

The paper investigates the relationship between gene expression and brain atrophy in genetic frontotemporal dementia, finding correlations between atrophy patterns and specific gene sets related to vascular, glial, and neuronal functions.

The paper develops a random forest classifier to diagnose behavioral variant frontotemporal dementia using MRI and cognitive scores, achieving high accuracy in both training and validation cohorts.

This paper introduces SuStaIn, a machine learning method that identifies disease subtypes and their temporal progression from cross-sectional data, improving prediction of diagnostic conversion in neurodegenerative diseases.

The paper detects pre-symptomatic shape changes in the thalamus using spatiotemporal analysis of MRI scans from the GENFI study, finding differences five years before symptoms appear.

This study examines the link between multiple concussions and brain atrophy in retired Canadian football players, finding greater hippocampal atrophy and poorer verbal memory performance compared to controls.