Tania F. Gendron

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 study compares five NfL immunoassays in plasma and CSF, finding four with excellent performance and noting assay-specific biases and correlations.

This study investigates how C9orf72 repeat expansion affects metabolism in human iPSC-derived microglia and its impact on glial-neuronal interactions in ALS.

The paper shows that C9ORF72 repeat expansions cause aberrant splicing, leading to exonization and altered RNA processing in ALS/FTD.

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.

The paper identifies cell type-specific molecular changes in the prefrontal cortex of C9orf72 ALS/FTD patients correlated with pTDP-43 levels.

This study shows FUS suppresses RAN translation by modulating G-quadruplex structure of GGGGCC repeat RNA, reducing neurodegeneration in C9-ALS/FTD model flies.

This study evaluates human-derived anti-poly-GA antibodies in cellular and animal models of C9ORF72 disease, showing mixed effects on poly-GA levels and disease progression.

This study removes a hexanucleotide repeat expansion in C9ORF72 using CRISPR/Cas9 in cell and animal models, reducing disease hallmarks.

This study uses C. elegans models to show that eIF2D is essential for RAN translation in C9orf72 expansions, and its inhibition extends lifespan and reduces disease.

This study examines C9orf72 ALS/FTD patient-derived iPSC-microglia mono-cultures, finding they form RNA foci, have reduced C9orf72 protein, and show endosomal-lysosomal dysfunction, but no significant microglial-enriched gene expression differences.

The paper identifies eRF1 and NMD as modifiers of C9orf72 repeat expansion toxicity by analyzing nucleocytoplasmic proteomic changes in ALS/FTD.

This study demonstrates that long-read sequencing can characterize the C9orf72 G4C2 repeat expansion in disease carriers, showing potential for clinical and genetic discovery applications.