Associated Papers
Genetic Causes, Clinical Features, and Survival of Underlying Inborn Errors of Immunity in Omani Patients: a Single-Center Study.
Al-Tamemi S et al.
Journal of Clinical Immunology, 2023
The natural history of ataxia-telangiectasia (A-T): A systematic review.
Petley E et al.
Plos One, 2022
35290391 (PubMed )
Supplement: pone.0264177.s005.xlsx › AFP
Immune Dysregulation in Monogenic Inborn Errors of Immunity in Oman: Over A Decade of Experience From a Single Tertiary Center.
Al Farsi T et al.
Frontiers in Immunology, 2022
ATM Kinase Dead: From Ataxia Telangiectasia Syndrome to Cancer.
Putti S et al.
Cancers, 2021
Atypical Ataxia Presentation in Variant Ataxia Telangiectasia: Iranian Case-Series and Review of the Literature.
Moeini Shad T et al.
Frontiers in Immunology, 2021
Six Novel ATM Gene Variants in Sri Lankan Patients with Ataxia Telangiectasia.
Hettiarachchi D et al.
Case Reports in Genetics, 2020
Kinase-dead ATM protein is highly oncogenic and can be preferentially targeted by Topo-isomerase I inhibitors.
Yamamoto K et al.
Elife, 2016
27304073 (PubMed )
Supplement: elife-14709-supp1.xlsx › Supplementary_Information_1A
Variant ataxia telangiectasia: clinical and molecular findings and evaluation of radiosensitive phenotypes in a patient and relatives.
Claes K et al.
Neuromolecular Medicine, 2013
Functional and computational assessment of missense variants in the ataxia-telangiectasia mutated (ATM) gene: mutations with increased cancer risk.
Mitui M et al.
Human Mutation, 2009
Immunodeficiency in ataxia telangiectasia is correlated strongly with the presence of two null mutations in the ataxia telangiectasia mutated gene.
Staples ER et al.
Clinical and Experimental Immunology, 2008
Molecular pathology of ataxia telangiectasia.
Taylor AM et al.
Journal of Clinical Pathology, 2005
The impact of an early truncating founder ATM mutation on immunoglobulins, specific antibodies and lymphocyte populations in ataxia-telangiectasia patients and their parents.
Stray-Pedersen A et al.
Clinical and Experimental Immunology, 2004
Select a paper to view details