Harro Seelaar

This study uses optical genome mapping to analyze C9orf72 repeat expansion instability in blood from ALS and FTD patients, finding age-dependent differences in repeat size dynamics between conditions.

The paper analyzes somatic mutations in neurons from FTLD-TDP type C patients and controls, finding extensive low-frequency variants in TARDBP and other genes.

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 reports cryo-EM structures of tau filaments from MAPT mutants, showing how specific mutations alter the Pick fold structure and enable reconstitution of variants.

The paper integrates genotype, clinical, and neuropathological data from 2,553 donors to show genetic risk overlaps across brain disorders and neuropsychiatric symptoms.

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

This study identifies 118 new genetic loci associated with Alzheimer's disease across diverse ancestries and discovers 48 novel risk loci, including those enriched in neuronal cell types.

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.

The paper reports cryo-EM structures of tau filaments from individuals with P301L and P301T MAPT mutations, revealing distinct filament folds associated with FTDP-17.

This paper introduces RISH-GLM, a method to harmonize diffusion MRI data across sites without requiring matched training subjects, showing effectiveness with unmatched groups and multiple sites.

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.