Daniela Galimberti

DTI-ALPS PRIMARILY REFLECTS WHITE MATTER DIFFUSION DISPERSION AND MICROSTRUCTURAL HETEROGENEITY IN NEURODEGENERATION: INSIGHTS FROM MULTI-MODAL MRI

This study investigates DTI-ALPS as a marker of glymphatic flow in neurodegeneration and finds it primarily reflects white matter diffusion dispersion and microstructural heterogeneity rather than glymphatic flow.

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.

Machine-learning MRI stratification of genetic frontotemporal dementia for clinical trial enrichment

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

MRI-based classifier to identify close-to-onset cases in C9orf72 genetic frontotemporal dementia

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

White Matter Hyperintensities Precede other Biomarkers in GRN Frontotemporal Dementia

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.

APOE stratified genome-wide association studies provide novel insights into the genetic etiology of Alzheimers's disease

This study performs APOE-stratified GWAS to uncover genetic mechanisms underlying Alzheimer's disease risk and response to therapies.

Exome analysis of 22,319 individuals links extremely rare CNVs and 22q11.21 dosage to Alzheimer's risk

The paper analyzes exome data from 22,319 individuals to identify rare CNVs and 22q11.21 dosage as risk factors for Alzheimer's disease.

Regulatory T-cells in multiple sclerosis produce IL-10 in the central nervous system but are activated by Epstein-Barr Virus

This study identifies EOMES+Tr1-like regulatory T-cells in MS that produce IL-10 and are activated by EBV, suggesting their impaired function contributes to immune escape.

Domain mapping of disease mutations supports genetic testing of specific SORL1 variants in Alzheimer's Disease

The paper identifies high-priority missense variants in SORL1 associated with increased Alzheimer's Disease risk and earlier onset, suggesting clinical counseling considerations for carriers.

Cerebellar and subcortical atrophy contribute to psychiatric symptoms in frontotemporal dementia

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

Exome sequencing identifies rare damaging variants in ATP8B4 and ABCA1 as novel risk factors for Alzheimers Disease

The paper identifies rare damaging variants in ATP8B4 and ABCA1 as novel risk factors for Alzheimer's Disease using exome sequencing data from 32,558 individuals.

New susceptibility loci for severe COVID-19 by detailed GWAS analysis in European populations

This study identifies a new susceptibility locus for severe COVID-19 through a detailed GWAS analysis in European populations, focusing on genetic variants associated with disease severity.

Global network structure and local transcriptomic vulnerability shape atrophy in sporadic and genetic behavioral variant frontotemporal dementia

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

Analysis of brain atrophy and local gene expression in genetic frontotemporal dementia

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.

Data-driven algorithm for the diagnosis of behavioral variant frontotemporal dementia

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.

The Multiple Sclerosis Genomic Map: Role of peripheral immune cells and resident microglia in susceptibility

The paper reports a detailed genetic and genomic map of multiple sclerosis, identifying susceptibility genes in peripheral immune cells and brain-resident microglia.

Low frequency and rare coding variation contributes to multiple sclerosis risk

The paper identifies low-frequency coding variants contributing to multiple sclerosis risk using a large case-control study.

Uncovering the heterogeneity and temporal complexity of neurodegenerative diseases with Subtype and Stage Inference

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.

Spatiotemporal analysis for detection of pre-symptomatic shape changes in neurodegenerative diseases: applied to GENFI study

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.

CXCR4 involvement in neurodegenerative diseases

The paper identifies a genetic variant near CXCR4 associated with increased risk for PSP and PD, showing dysregulation of CXCR4 and microglia-related genes in neurodegenerative diseases.

Meta-analysis of genetic association with diagnosed Alzheimer’s disease identifies novel risk loci and implicates Abeta, Tau, immunity and lipid processing

This study performs a large GWAS of Alzheimer's disease, identifies four new risk loci, and highlights pathways involving immunity, lipid metabolism, and APP/Aβ processing.

Immune-related genetic enrichment in frontotemporal dementia

This study identifies genetic overlaps between frontotemporal dementia and immune-mediated diseases, finding strong enrichment with rheumatoid arthritis and moderate enrichment with other immune conditions.