1. Boder, E. Ataxia-telangiectasia: an overview. Kroc. Found. Ser. 19, 1–63 (1985). An excellent description of the clinical phenotype in A-T particularly for the neurological defects.
2. Syllaba, K. & Henner, K. Contribution a l'independence de l'athetose double idiopathique et congenitale. Atteinte familiale, syndrome dystrophique, signe de reseau vasculaire conjonctival, integrite psychique. Rev. Neurol. 1, 541–562 (1926) (in French).
3. Boder, E. & Sedgwick, R. P. Ataxia-telangiectasia. A familial syndrome of progressive cerebellar ataxia, oculocutaneous telangiectasia and frequent pulmonary infection. A preliminary report on 7 children, an autopsy, and a case history. Univ. S. Calif. Med. Bull. 9, 15–28 (1957).
4. Lavin, M. F. & Shiloh, Y. The genetic defect in ataxia-telangiectasia. Annu. Rev. Immunol. 15, 177–202 (1997). A comprehensive early review on A-T and the cloning and characteristics of the ATM gene.
5. Gatti, R. A. et al. Localization of an ataxia-telangiectasia gene to chromosome 11q22–23. Nature 336, 577–580 (1988).