Research graph
References from Classic Ataxia–Telangiectasia associated with a homozygous missense ATM variant: A case report. Local targets link to admitted publications; unresolved targets remain external evidence.
Ataxia-telangiectasia; a familial syndrome of progressive cerebellar ataxia, oculocutaneous telangiectasia and frequent pulmonary infection
10.1542/peds.21.4.526 · 1958 · External reference
The ATM protein kinase: regulating the cellular response to genotoxic stress, and more
10.1038/nrm3546 · 2013 · External reference
Ataxia-telangiectasia: from a rare disorder to a paradigm for cell signalling and cancer
10.1038/nrm2514 · 2008 · External reference
Characterization of ATM gene mutations in 66 ataxia telangiectasia families
10.1093/hmg/8.1.69 · 1999 · External reference
Ataxia telangiectasia: more variation at clinical and cellular levels
10.1111/cge.12453 · 2015 · External reference
Ataxia-telangiectasia: a case report and a brief review
2023 · External reference
Evaluation of clinical and laboratory features of patients with Ataxia-telangiectasia
10.21911/aai.006 · 2023 · External reference
Radiological imaging in ataxia telangiectasia: a review
10.1007/s12311-014-0557-4 · 2014 · External reference
Ataxia telangiectasia arising as immunodeficiency: the intriguing differential diagnosis
10.3390/jcm12186041 · 2023 · External reference
Modeling ATM mutant proteins from missense changes confirms retained kinase activity
10.1002/humu.21034 · 2009 · External reference
Underexpression and abnormal localization of ATM products in ataxia telangiectasia patients bearing ATM missense mutations
10.1038/ejhg.2011.196 · 2012 · External reference
The spectrum of ATM gene mutations in Iranian patients with ataxia-telangiectasia
10.1111/pai.13461 · 2021 · External reference
The association between ATM variants and risk of breast cancer: a systematic review and meta-analysis
10.1186/s12885-020-07749-6 · 2021 · External reference
Modeling ATM mutant proteins from missense changes confirms retained kinase activity
10.1002/humu.21034 · ExternalCitation · doi-reference
Radiological imaging in ataxia telangiectasia: a review
10.1007/s12311-014-0557-4 · ExternalCitation · doi-reference
Underexpression and abnormal localization of ATM products in ataxia telangiectasia patients bearing ATM missense mutations
10.1038/ejhg.2011.196 · ExternalCitation · doi-reference
Ataxia-telangiectasia: from a rare disorder to a paradigm for cell signalling and cancer
10.1038/nrm2514 · ExternalCitation · doi-reference
The ATM protein kinase: regulating the cellular response to genotoxic stress, and more
10.1038/nrm3546 · ExternalCitation · doi-reference
Characterization of ATM gene mutations in 66 ataxia telangiectasia families
10.1093/hmg/8.1.69 · ExternalCitation · doi-reference
Ataxia telangiectasia: more variation at clinical and cellular levels
10.1111/cge.12453 · ExternalCitation · doi-reference
The spectrum of ATM gene mutations in Iranian patients with ataxia-telangiectasia
10.1111/pai.13461 · ExternalCitation · doi-reference
The association between ATM variants and risk of breast cancer: a systematic review and meta-analysis
10.1186/s12885-020-07749-6 · ExternalCitation · doi-reference
Ataxia-telangiectasia; a familial syndrome of progressive cerebellar ataxia, oculocutaneous telangiectasia and frequent pulmonary infection
10.1542/peds.21.4.526 · ExternalCitation · doi-reference
Evaluation of clinical and laboratory features of patients with Ataxia-telangiectasia
10.21911/aai.006 · ExternalCitation · doi-reference
Ataxia telangiectasia arising as immunodeficiency: the intriguing differential diagnosis
10.3390/jcm12186041 · ExternalCitation · doi-reference
