- A single ataxia telangiectasia gene with a product similar to PI-3 kinase.
- Ataxia-telangiectasia: A new remitting form with a peculiar transcriptome signature
- ATM splicing variants as biomarkers for low dose dexamethasone treatment of A-T.
- Dexamethasone improves redox state in ataxia telangiectasia cells by promoting an NRF2-mediated antioxidant response.
- Dexamethasone partially rescues ataxia telangiectasia-mutated (ATM) deficiency in ataxia telangiectasia by promoting a shortened protein variant retaining kinase activity.
- Functional Classification of the ATM Variant c.7157C>A and In Vitro Effects of Dexamethasone
- Genotype-phenotype correlations in ataxia telangiectasia patients with ATM c.3576G>A and c.8147T>C mutations.
- 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.
- Modulation of hypersensitivity to oxidative DNA damage in ATM defective cells induced by potassium bromate by inhibition of the Poly (ADP-ribose) polymerase (PARP).
- Nano-Mechanical Characterization of Ataxia Telangiectasia Cells Treated with Dexamethasone.
- Novel compound heterozygous mutations in a child with Ataxia-Telangiectasia showing unrelated cerebellar disorders.
- Progressive Depletion of B and T Lymphocytes in Patients with Ataxia Telangiectasia: Results of the Italian Primary Immunodeficiency Network
- Proteomics and transcriptomics analyses of ataxia telangiectasia cells treated with Dexamethasone.
