Steve Vucic

The Charcot-Marie-Tooth Neuropathy (CMTX3) Complex Structural Variation Causes Differential SOX3 Spatiotemporal Expression

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

A deep intronic variant in MME causes autosomal recessive Charcot-Marie-Tooth neuropathy through aberrant splicing

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

Transgenic mice overexpressing mutant TDP-43 show aberrant splicing of autism associated gene Zmynd11 prior to onset of motor symptoms

This study shows that mutant TDP-43 causes aberrant splicing of Zmynd11 in mice before motor symptoms appear.

Novel gene-intergenic fusion involving ubiquitin E3 ligase UBE3C causes distal hereditary motor neuropathy: A new mechanism for motor neuron degeneration.

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.

Cortical hyperexcitability drives dying forward ALS symptoms and pathology in mice

This study shows that cortical hyperexcitability in mice leads to ALS-like motor symptoms and pathology through a dying-forward mechanism.

Immunotherapy prevents long-term disability in relapsing multiple sclerosis over 15 years

This study shows that immunotherapy reduces disability and relapses in relapsing multiple sclerosis over 15 years.