Robert H. Brown

The paper examines changes in chromosome conformation, nuclear organization, and transcription during motor neuron maturation in control and ALS C9orf72 mutant cells, finding delayed maturation in disease models.

The paper shows that silencing SOD1 with optimized di-siRNA extends survival and prevents disease progression in ALS mice.

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 shows that Sod1G85R knock-in mice exhibit up-regulated cholesterol synthesis pathways and limited neurodegeneration, contrasting with severe TgSOD1G93A mice, suggesting lipid pathway dysregulation in ALS.

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

This study shows that low-level overexpression of wild-type TDP-43 in mice causes late-onset, progressive neurodegeneration and paralysis, mimicking aspects of ALS and other TDP-43-related disorders.

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.

This study shows that modulating actin polymerization affects nucleocytoplasmic transport in ALS, with potential therapeutic implications.

The paper applies two novel collapsing methods to ALS sequencing data to identify risk regions in known ALS genes and candidate genes.