Wang AS, Lemire G, VanNoy GE, Austin-Tse C, O’Donnell-Luria A, Kilbane C. DNM1L variant presenting as adolescent-onset sensory neuronopathy, spasticity, dystonia, and ataxia. Journal of pediatric neurology : JPN. 2023;21(6):475-478. doi:10.1055/s-0043-1771352
Maltby CJ, Krans A, Grudzien SJ, et al. AAGGG repeat expansions trigger RFC1-independent synaptic dysregulation in human CANVAS Neurons. bioRxiv : the preprint server for biology. 2023. doi:10.1101/2023.12.13.571345