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Pre-emptive Allogeneic Hematopoietic Stem Cell Transplantation in Ataxia Telangiectasia.
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A historical reflection on our understanding of radiation-induced DNA double strand break repairin somatic mammalian cells; interfacing the past with the present.
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A late onset variant of ataxia-telangiectasia with a compound heterozygous genotype, A8030G/7481insA.
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A new ataxia-telangiectasia mutation in an 11-year-old female.
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A Novel Mechanism of Ataxia Telangiectasia Mutated Mediated Regulation of Chromatin Remodeling in Hypoxic Conditions
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A-T Society
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An overview of proactive monitoring and management of respiratory issues in ataxia-telangiectasia in a specialist and shared care pediatric clinic
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Ataxia telangiectasia in the British Isles: the clinical and laboratory features of 70 affectedindividuals.
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Ataxia telangiectasia: more variation at clinical and cellular levels.
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Ataxia telangiectasia: presentation and diagnostic delay.
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Ataxia telangiectasia: why should the ERS care?
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ATM Gene Mutation Detection Techniques and Functional Analysis.
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ATM germ line pathogenic variants affect outcomes in children with ataxia-telangiectasia and hematological malignancies
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ATM germline heterozygosity does not play a role in chronic lymphocytic leukemia initiation but influences rapid disease progression through loss of the remaining ATM allele.
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ATM mutations and phenotypes in ataxia-telangiectasia families in the British Isles: expression of mutant ATM and the risk of leukemia, lymphoma, and breast cancer.
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ATM orchestrates the DNA-damage response to counter toxic non-homologous end-joining at broken replication forks.
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Biomarkers in Ataxia-Telangiectasia: a Systematic Review
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Childhood-Onset Movement Disorders Can Mask a Primary Immunodeficiency: 6 Cases of Classical Ataxia-Telangiectasia and Variant Forms
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Chromosome instability syndromes.
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Classical ataxia telangiectasia patients have a congenitally aged immune system with high expression of CD95.