Late-onset Ataxia Telangiectasia

Overview

Journal Neurol Clin Pract

Date 2018 Feb 24

PMID 29473572

Citations 3

Authors

Laurence Newrick

Noor Sharrack

Marios Hadjivassiliou

Affiliations

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Citing Articles

The natural history of ataxia-telangiectasia (A-T): A systematic review.

Petley E, Yule A, Alexander S, Ojha S, Whitehouse W PLoS One. 2022; 17(3):e0264177.

PMID: 35290391 PMC: 9049793. DOI: 10.1371/journal.pone.0264177.

Atypical Ataxia Presentation in Variant Ataxia Telangiectasia: Iranian Case-Series and Review of the Literature.

Shad T, Yazdani R, Amirifar P, Delavari S, Heidarzadeh Arani M, Mahdaviani S Front Immunol. 2022; 12:779502.

PMID: 35095854 PMC: 8795590. DOI: 10.3389/fimmu.2021.779502.

TREC/KREC levels in children with ataxia-telangiectasia.

Boyarchuk O, Makukh H, Kostyuchenko L, Yarema N, Haiboniuk I, Kravets V Immunol Res. 2021; 69(5):436-444.

PMID: 34427868 DOI: 10.1007/s12026-021-09216-1.

References

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Thompson D, Duedal S, Kirner J, McGuffog L, Last J, Reiman A . Cancer risks and mortality in heterozygous ATM mutation carriers. J Natl Cancer Inst. 2005; 97(11):813-22. DOI: 10.1093/jnci/dji141. View

Micol R, Slama L, Suarez F, Le Mignot L, Beaute J, Mahlaoui N . Morbidity and mortality from ataxia-telangiectasia are associated with ATM genotype. J Allergy Clin Immunol. 2011; 128(2):382-9.e1. DOI: 10.1016/j.jaci.2011.03.052. View

Verhagen M, Abdo W, Willemsen M, Hogervorst F, Smeets D, Hiel J . Clinical spectrum of ataxia-telangiectasia in adulthood. Neurology. 2009; 73(6):430-7. DOI: 10.1212/WNL.0b013e3181af33bd. View

Verhagen M, Last J, Hogervorst F, Smeets D, Roeleveld N, Verheijen F . Presence of ATM protein and residual kinase activity correlates with the phenotype in ataxia-telangiectasia: a genotype-phenotype study. Hum Mutat. 2012; 33(3):561-71. DOI: 10.1002/humu.22016. View