- ATM splicing variants as biomarkers for low dose dexamethasone treatment of A-T.
- Development of global rating instruments for pediatric patients with ataxia telangiectasia.
- Intra-erythrocyte infusion of dexamethasone reduces neurological symptoms in ataxia teleangiectasia patients: results of a phase 2 trial.
- Low thymic output and reduced heterogeneity of alpha/beta, but not gamma/delta, T lymphocytes in infants with ataxia-telangiectasia.
- Minimum effective betamethasone dosage on the neurological phenotype in patients with ataxia-telangiectasia: a multicenter observer-blind study.
- Neurovisual Assessment in Children with Ataxia Telangiectasia.
- Novel compound heterozygous mutations in a child with Ataxia-Telangiectasia showing unrelated cerebellar disorders.
