- Ataxia-telangiectasia: A new remitting form with a peculiar transcriptome signature
- ATM splicing variants as biomarkers for low dose dexamethasone treatment of A-T.
- Development of global rating instruments for pediatric patients with ataxia telangiectasia.
- Functional Classification of the ATM Variant c.7157C>A and In Vitro Effects of Dexamethasone
- In vivo effects of dexamethasone on blood gene expression in ataxia telangiectasia.
- Intra-erythrocyte infusion of dexamethasone reduces neurological symptoms in ataxia teleangiectasia patients: results of a phase 2 trial.
- Mild Neurological Phenotype Associated with Hypomorphic Variants in the Ataxia-Telangiectasia Mutated Gene
