• A Comparison of Pathogenic Eukaryotic Elongation Factor 2 (EEF2) Variants in Spinocerebellar Ataxia 26 Versus De Novo Mutations
• A conserved eEF2 coding variant in SCA26 leads to loss of translational fidelity and increased susceptibility to proteostatic insult
• A novel de novo variant in CASK causes a severe neurodevelopmental disorder that masks the phenotype of a novel de novo variant in EEF2
• A rad50 germline mutation induces tumorigenesis and ataxia-telangiectasia phenotype in a transparent medaka model
• Alterations in oligodendrocyte transcriptional networks reveal region-specific vulnerabilities to neurological disease
• Cell cycle control (and more) by programmed -1 ribosomal frameshifting: implications for disease and therapeutics
• Clinical and Genetic Characterization of Brazilian Patients with Ataxia and Oculomotor Apraxia
• De Novo variants in EEF2 cause a neurodevelopmental disorder with benign external hydrocephalus
• Deep brain stimulation for patients with dystonia in Machado-Joseph disease: three case reports
• Demographics and Clinical Characteristics of Autosomal Dominant Spinocerebellar Ataxia in Canada
• Design, synthesis and biological evaluation of pyrrolopyrimidine derivatives as novel and selective positive modulator of the small conductance Ca²⁺-activated K⁺ channels
• Dopa-responsive dystonia in spinocerebellar ataxia 6: A case report
• EGR2 gene-linked hereditary neuropathies present with a bimodal age distribution at symptoms onset
• Expansion of clinical and variant spectrum of EEF2-related neurodevelopmental disorder: Report of two additional cases
• Histopathology of the cerebellar cortex in essential tremor and other neurodegenerative motor disorders: comparative analysis of 320 brains
• New Insights into the Roles of p53 in Central Nervous System Diseases
• Nusinersen Treatment of Children with Later-Onset Spinal Muscular Atrophy and Scoliosis Is Associated with Improvements or Stabilization of Motor Function
• Selective Inhibition of ATM-dependent Double-strand Break Repair and Checkpoint Control Synergistically Enhances the Efficacy of ATR Inhibitors
• Visual oculomotor abnormalities and vestibulo‑ocular reflex dynamics in polyglutamine spinocerebellar ataxias (Review)
• Whole-body MRI for cancer surveillance in ataxia-telangiectasia: A qualitative study of the perspectives of people affected by A-T and their families