Carol Dobson‐Stone

The paper investigates how TBK1 missense variants affect TDP-43 mislocalization and OPTN binding in FTD and ALS, finding that loss of OPTN binding is more critical than kinase activity.

This study develops a programmable nanopore sequencing assay for diagnosing all known pathogenic STRs in a single test, accurately diagnosing 27 patients with neurogenetic disorders.

This paper develops an automated method to quantify TDP-43 and FUS mislocalization in human cell lines to assess the pathogenicity of FTD and ALS gene variants.

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

The paper identifies a genetic variant near CXCR4 associated with increased risk for PSP and PD, showing dysregulation of CXCR4 and microglia-related genes in neurodegenerative diseases.