Linda Greensmith

The paper investigates a dual-strategy approach using a muscle-tropic AAV capsid and muscle-specific promoter to improve gene delivery efficiency and reduce off-target expression in skeletal muscle.

This study identifies conserved transcriptional changes in motor neurons from human and mouse SBMA models, revealing shared dysregulation in pathways like spliceosome, cell cycle, and mitochondrial function across developmental and disease stages.

This study identifies sex-dependent motor neuron dysfunction and cargo-specific axonal transport impairments in FUS-ALS mice, linking endosomal transport defects to denervation in ALS.

This study creates (GA)400 knock-in mice to model C9orf72 polyGA expression, finding mild motor dysfunction and proteomic changes in the spinal cord.

The paper generates C9orf72 DPR knock-in mice and identifies an extracellular matrix signature in C9ALS/FTD that is conserved across species and protected by TGF-β1 and COL6A1.

This study compares microglial DKK2 expression in mouse AD models and human AD brains, finding upregulation in mice but not in humans.

The paper identifies miR-181 as a prognostic biomarker in ALS, showing it predicts higher mortality risk and improves prognosis prediction when combined with NfL.

The paper develops an automated image processing pipeline with machine learning to classify motor neuron phenotypes in ALS tissue at single-cell resolution, revealing common morphological aberrations and validating their discriminative power between ALS and healthy tissue.

This study shows that skeletal muscle MRI can distinguish between SBMA and ALS and is linked to disease severity.

The paper investigates FUS mislocalization in ALS, finding it occurs in both VCP-mutation related and sporadic ALS, and links it to aberrant intron retention in SFPQ transcripts.

The paper measures plasma pNfH levels in SBMA and ALS patients, finding no increase in SBMA but a significant increase in ALS, suggesting pNfH could differentiate the two diseases.

The paper identifies post-transcriptional changes during motor neurogenesis in ALS models, showing premature intron retention in VCP-mutant cells and similar effects in SOD1 and FUS mutations.