- A Patient-Specific Stem Cell Model to Investigate the Neurological Phenotype Observed in Ataxia-Telangiectasia.
- A rat model of ataxia-telangiectasia: evidence for a neurodegenerative phenotype.
- A single ataxia telangiectasia gene with a product similar to PI-3 kinase.
- Altered corticomotor-cerebellar integrity in young ataxia telangiectasia patients.
- An anaplerotic approach to correct the mitochondrial dysfunction in ataxia-telangiectasia (A-T)
- Ataxia Telangiectasia iPSC line generated from a patient olfactory biopsy identifies novel disease-causing mutations
- Correction of ATM mutations in iPS cells from two ataxia-telangiectasia patients restores DNA damage and oxidative stress responses
- Current and potential therapeutic strategies for the treatment of ataxia-telangiectasia.
- Functional and computational assessment of missense variants in the ataxia-telangiectasia mutated (ATM) gene: mutations with increased cancer risk.
- Generating SM(a)RTer compounds for translation termination suppression in A-T and other genetic disorders.
- Human iPSC-Derived Cerebellar Neurons from a Patient with Ataxia-Telangiectasia Reveal Disrupted Gene Regulatory Networks.
- Increased susceptibility of airway epithelial cells from ataxia-telangiectasia to S. pneumoniae infection due to oxidative damage and impaired innate immunity.
- Loss of ATM in Airway Epithelial Cells Is Associated with Susceptibility to Oxidative Stress.
- Metabolic Stress and Mitochondrial Dysfunction in Ataxia-Telangiectasia
- Motor pathway degeneration in young ataxia telangiectasia patients: A diffusion tractography study.
- Nutritional status of patients with ataxia-telangiectasia: A case for early and ongoing nutrition support and intervention.
- Radiological imaging in ataxia telangiectasia: a review.
- The genetic defect in ataxia-telangiectasia.
