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- Ataxia-telangiectasia: a familial syndrome of progressive cerebellar ataxia, oculocutaneous telangiectasia and frequent pulmonary infection.Pediatrics. 1958; 21: 526-554
- Classic ataxia-telangiectasia: the phenotype of long-term survivors.J. Neurol. 2020 Mar; 267: 830-837
- Quality of life and neurological disability in children and young people with ataxia telangiectasia.Eur. J. Paediatr. Neurol. 2022 Jul 21; 40: 34-39