- Ataxia telangiectasia: a review.
- ATM splicing variants as biomarkers for low dose dexamethasone treatment of A-T.
- Body composition, muscle strength and hormonal status in patients with ataxiatelangiectasia: a cohort study.
- Intra-erythrocyte infusion of dexamethasone reduces neurological symptoms in ataxia teleangiectasia patients: results of a phase 2 trial.
- Is age a risk factor for liver disease and metabolic alterations in ataxia Telangiectasia patients?
- Safety and caregiver satisfaction with gastrostomy in patients with Ataxia Telangiectasia.
- Transcriptional profiling of peripheral blood mononuclear cells identifies inflammatory phenotypes in Ataxia Telangiectasia