Classic Ataxia–Telangiectasia associated with a homozygous missense ATM variant: A case report

Ataxia-telangiectasia; a familial syndrome of progressive cerebellar ataxia, oculocutaneous telangiectasia and frequent pulmonary infection

10.1542/peds.21.4.526 · 1958

The ATM protein kinase: regulating the cellular response to genotoxic stress, and more

10.1038/nrm3546 · 2013

Ataxia-telangiectasia: from a rare disorder to a paradigm for cell signalling and cancer

10.1038/nrm2514 · 2008

Characterization of ATM gene mutations in 66 ataxia telangiectasia families

10.1093/hmg/8.1.69 · 1999

Ataxia telangiectasia: more variation at clinical and cellular levels

10.1111/cge.12453 · 2015

Ataxia-telangiectasia: a case report and a brief review

2023

Evaluation of clinical and laboratory features of patients with Ataxia-telangiectasia

10.21911/aai.006 · 2023

Radiological imaging in ataxia telangiectasia: a review

10.1007/s12311-014-0557-4 · 2014

Ataxia telangiectasia arising as immunodeficiency: the intriguing differential diagnosis

10.3390/jcm12186041 · 2023

Modeling ATM mutant proteins from missense changes confirms retained kinase activity