- Longitudinal analysis of the neurological features of ataxia-telangiectasia.
- Magnetic resonance imaging of ataxia-telangiectasia.
- Management of Individuals With a Mutation in the Ataxia Telangiectasia Mutated Gene.
- Mechanisms of Non-canonical Activation of Ataxia Telangiectasia Mutated.
- More Than Ataxia: Hyperkinetic Movement Disorders in Childhood Autosomal Recessive Ataxia Syndromes.
- NAD+ Replenishment Improves Lifespan and Healthspan in Ataxia Telangiectasia Models via Mitophagy and DNA Repair.
- Novel ATM mutations with ataxia-telangiectasia.
- Novel compound heterozygous mutations in a child with Ataxia-Telangiectasia showing unrelated cerebellar disorders.
- Recognition of genetic predisposition in pediatric cancer patients: An easy-to-use selection tool
- Reply to Comment on: Treatment of EBV-Associated Nodular Sclerosing Hodgkin Lymphoma in a Patient With Ataxia Telangiectasia With Brentuximab Vedotin and Reduced COPP Plus Rituximab.
- Robust reprogramming of Ataxia-Telangiectasia patient and carrier erythroid cells to induced pluripotent stem cells.
- Serum Interleukin-6 Levels and Pulmonary Function in Ataxia-Telangiectasia.
- Structure of the human dimeric ATM kinase.
- The impact of glutamine supplementation on the symptoms of ataxia-telangiectasia: a preclinical assessment.
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