Garth A. Nicholson

This study examines ZFHX3 GGC repeat expansions in ALS and finds no association with disease risk, but identifies diverse repeat motif compositions.

The paper identifies a 78-kb insertion in the CMTX3 locus that causes spatiotemporal dysregulation of SOX3 expression in neuronal differentiation.

This paper performs a meta-analysis of UBQLN2 genetic variants in ALS/FTD, finding sex-specific differences in age at onset and aggregate burden in brain tissue.

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

The paper identifies a deep intronic MME variant causing CMT through aberrant splicing, highlighting the importance of considering deep intronic variants in CMT diagnosis.

This study shows that sodium butyrate improves symptoms of SCA3 by enhancing autophagy through PKA/AMPK signaling in both cell and zebrafish models.

The paper demonstrates that neuropathy-associated AARS1 mutations exhibit dominant-negative effects by reducing yeast growth when co-expressed with wild-type AARS1.

The paper compares ubiquilin 2 and TDP-43 aggregate distribution in UBQLN2-linked and sporadic ALS/FTD cases across the CNS.

This study uses molecular dynamics and clinical data to show structural and dynamic differences between WTL and MBR SOD1 variants, linking these to distinct ALS clinical outcomes.

The paper identifies a novel gene-intergenic fusion in UBE3C causing dHMN and demonstrates its pathogenic effects using patient-derived models and a C. elegans transgenic system.

The paper identifies a hippocampal protein aggregation signature that distinguishes pathogenic from wildtype UBQLN2 in ALS/FTD cases.

The paper shows sodium valproate activates the sirtuin pathway, improving movement in a zebrafish model of spinocerebellar ataxia-3.

This study identifies nine genetic loci associated with age at onset in Machado-Joseph disease, suggesting roles for DNA repair and synaptic pathways in disease progression.