Levy A, Lang AE. Ataxia-telangiectasia: A review of movement disorders, clinical features, and genotype correlations. Mov Disord. 2018 Feb 13. [Medline].
Boder E, Sedgwick RP. Ataxia-telangiectasia; a familial syndrome of progressive cerebellar ataxia, oculocutaneous telangiectasia and frequent pulmonary infection. Pediatrics. 1958 Apr. 21(4):526-54. [Medline].
Zaki-Dizaji M, Akrami SM, Abolhassani H, Rezaei N, Aghamohammadi A. Ataxia telangiectasia syndrome: moonlighting ATM. Expert Rev Clin Immunol. 2017 Dec. 13 (12):1155-1172. [Medline].
Anheim M, Tranchant C, Koenig M. The autosomal recessive cerebellar ataxias. N Engl J Med. 2012 Feb 16. 366(7):636-46. [Medline].
Federighi P, Ramat S, Rosini F, Pretegiani E, Federico A, Rufa A. Characteristic Eye Movements in Ataxia-Telangiectasia-Like Disorder: An Explanatory Hypothesis. Front Neurol. 2017. 8:596. [Medline]. [Full Text].
Rothblum-Oviatt C, Wright J, Lefton-Greif MA, McGrath-Morrow SA, Crawford TO, Lederman HM. Ataxia telangiectasia: a review. Orphanet J Rare Dis. 2016 Nov 25. 11 (1):159. [Medline].
Mahon SM. Management of Individuals With a Mutation in the Ataxia Telangiectasia Mutated Gene. Oncol Nurs Forum. 2016 Jan. 43 (1):114-7. [Medline].
Albert DM, et al. Phakomatoses-Ataxia-Telangiectasia (Louis-Bar Syndrome). Principles and Practice of Ophthalmology Clinical Practice. Philadelphia: WB Saunders; 1994.
Farr AK, Shalev B, Crawford TO, Lederman HM, Winkelstein JA, Repka MX. Ocular manifestations of ataxia-telangiectasia. Am J Ophthalmol. 2002 Dec. 134(6):891-6. [Medline].
Fireman P, et al. Ataxia-telangiectasia: a dysgammaglobulinemia with deficient Gamma 1A (B2A) Globulin. Lancet. 1964. 1:1193-5.
Gatti RA, Berkel I, Boder E, et al. Localization of an ataxia-telangiectasia gene to chromosome 11q22-23. Nature. 1988 Dec 8. 336(6199):577-80. [Medline].
Gatti RA, Boder E, Vinters HV, Sparkes RS, Norman A, Lange K. Ataxia-telangiectasia: an interdisciplinary approach to pathogenesis. Medicine (Baltimore). 1991 Mar. 70(2):99-117. [Medline].
Harley RD, Baird HW, Craven EM. Ataxia-telangiectasia. Report of seven cases. Arch Ophthalmol. 1967 May. 77(5):582-92. [Medline].
Karpati G, Eisen AH, Andermann F, Bacal HL, Robb P. Ataxia-Telangiectasia. Further Observatons and Report of Eight Cases. Am J Dis Child. 1965 Jul. 110:51-63. [Medline].
Khan AO, Oystreck DT, Koenig M, Salih MA. Ophthalmic features of ataxia telangiectasia-like disorder. J AAPOS. 2008 Apr. 12(2):186-9. [Medline].
Lewis RF, Crawford TO. Slow target-directed eye movements in ataxia-telangiectasia. Invest Ophthalmol Vis Sci. 2002 Mar. 43(3):686-91. [Medline].
Lewis RF, Lederman HM, Crawford TO. Ocular motor abnormalities in ataxia telangiectasia. Ann Neurol. 1999 Sep. 46(3):287-95. [Medline].
Perlman S, Becker-Catania S, Gatti RA. Ataxia-telangiectasia: diagnosis and treatment. Semin Pediatr Neurol. 2003 Sep. 10(3):173-82. [Medline].
Riise R, Ygge J, Lindman C, et al. Ocular findings in Norwegian patients with ataxia-telangiectasia: a 5 year prospective cohort study. Acta Ophthalmol Scand. 2007 Aug. 85(5):557-62. [Medline].
Swift M, Reitnauer PJ, Morrell D, Chase CL. Breast and other cancers in families with ataxia-telangiectasia. N Engl J Med. 1987 May 21. 316(21):1289-94. [Medline].
Tadjoedin MK, et al. Hereditary of Ataxia-Telangiectasia (Louis-Bar Syndrome). Amer J Dis Child. July 1965. 110:
Tang SY, Shaikh AG. Past and Present of Eye Movement Abnormalities in Ataxia-Telangiectasia. Cerebellum. 2019 Jun. 18 (3):556-564. [Medline].
Voss S, Pietzner J, Hoche F, Taylor AM, Last JI, Schubert R, et al. Growth retardation and growth hormone deficiency in patients with Ataxia telangiectasia. Growth Factors. 2014 Jun. 32 (3-4):123-9. [Medline].
van Os NJ, Roeleveld N, Weemaes CM, Jongmans MC, Janssens GO, Taylor AM, et al. Health risks for ataxia-telangiectasia mutated heterozygotes: a systematic review, meta-analysis and evidence-based guideline. Clin Genet. 2016 Aug. 90 (2):105-17. [Medline].
Sahama I, Sinclair K, Pannek K, Lavin M, Rose S. Radiological imaging in ataxia telangiectasia: a review. Cerebellum. 2014 Aug. 13 (4):521-30. [Medline].