Pamela J. Shaw

The paper identifies seven sex-dependent differentially methylated positions in ALS blood samples, suggesting sex-specific biological mechanisms in the disease.

This study identifies distinct astrocyte states in C9orf72 expansion carriers discordant for ALS, linking epigenetic changes, stress, and functional dysfunction to disease onset.

This study measures glutathione oxidation in cerebrospinal fluid of ALS patients and healthy controls, finding elevated levels and correlations with disease progression and protein oxidation.

This study compares AAV9-driven motor neuron transduction efficiency using different CNS delivery methods in mice, finding that unilateral ICV delivery provides the highest and most consistent transduction with minimal peripheral viral copies.

This paper develops a deep learning model using SNP microarray data to predict ALS risk with high accuracy across diverse populations and genotyping platforms.

This study shows that C9orf72-ALS mutation impairs mitophagy in iNeurons by reducing autophagosome production and ULK1 recruitment to mitochondria.

The paper investigates oligogenic risk in ALS using genome sequencing data, finding that multiple rare variants in known ALS genes increase disease risk but not clinical outcomes.

M102, a dual NRF2/HSF1 activator, slows disease progression in 2 mouse models and exerts neuroprotection in human cellular models of ALS.

The paper identifies sex-associated DNA methylation differences in ALS using a large-scale epigenome-wide association study and links them to survival outcomes.

This study creates a zebrafish model of C9orf72-ALS/FTD using RAN translation and shows hypothermia reduces DPR pathology and motor deficits.

The paper introduces predicTTE, a tool for time-to-event prediction in neurological diseases, demonstrating its utility in genetic discovery and personalized medicine.

This study shows that activating the Keap1/Nrf2 pathway reduces mitochondrial dysfunction and motor deficits in C9orf72 ALS/FTD models and patient-derived neurons.

The paper introduces a method to compress genetic data using autoencoders that leverage linkage disequilibrium structure, achieving high reconstruction accuracy while reducing data size.

This study compares compound muscle action potentials (CMAPs) in SOD1G93A mice and human ALS patients to identify translational alignment points for disease progression.

The paper identifies CCDC146 as a modifier of ALS survival through primary cilia dysfunction and shows ASO targeting of CCDC146 rescues ALS phenotypes in human and mouse models.

GRASPS identifies more differentially expressed transcripts with higher fold changes and significance in TDP-43 ALS models, revealing previously missed disease pathways.

This study identifies hnRNPUL1's role in Integrator-mediated snRNA cleavage and links its mutations to amyotrophic lateral sclerosis.

This study analyzes genetic and clinical data from PLS patients to assess the role of genetic testing and identify potential disease-associated variants.

This study shows that AD astrocytes have reduced mitochondrial and glycolytic function, which can be improved by increasing hexokinase 1 expression.

This study investigates the role of Neanderthal introgression and natural selection in the heritability of neurodegenerative diseases and finds no significant contribution from either.

The paper analyzes CAV1 and CAV2 expression in ALS brain tissue and finds higher expression in ALS patients, associated with increased survival and slower disease progression.

This paper develops a cell-penetrant peptide that blocks C9ORF72-repeat RNA nuclear export, reducing neurodegeneration in preclinical models of ALS and FTD.

This study identifies NEFH tail domain mutations as risk factors for ALS through meta-analysis and variant burden analysis in case-control studies and whole-genome sequencing data.

The paper identifies reduced EXOSC2 expression as protective against SARS-CoV-2 infection and clinical COVID-19 by inhibiting viral replication and upregulating antiviral genes.

This paper identifies GLT8D1 mutations as a cause of ALS by disrupting neurotrophin signaling in lipid rafts through reduced ganglioside expression.

The paper investigates how mitochondrial function affects ALS severity but not risk, identifying specific genetic and expression factors linked to disease progression.

This study identifies 690 candidate ALS genes using a hierarchical Bayesian model, highlighting genetic convergence on the distal axon and functional significance in motor neurons.

This study shows that inhibiting SRSF1-dependent nuclear export of C9ORF72-repeat transcripts in ALS models protects neurons and identifies key RNA changes involved in disease.

The paper identifies non-coding variants in the IL18RAP 3'UTR that reduce ALS risk by modulating neuro-inflammation through NF-κB signaling in microglia.

The paper identifies de-novo SPTLC1 mutations in juvenile ALS patients and suggests serine supplementation may alleviate symptoms.