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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.
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Clinicopathological significance of ataxia telangiectasia-mutated (ATM) kinase and ataxia telangiectasia-mutated and Rad3-related (ATR) kinase in MYC overexpressed breast cancers.
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Correlation Between the SARA and A-T NEST Clinical Severity Scores in Adults with Ataxia-Telangiectasia
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Elevated serum IL-8 levels in ataxia telangiectasia.
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ERS statement on the multidisciplinary respiratory management of ataxia telangiectasia.
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Eye Movement Disorders in Movement Disorders
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Genotype-phenotype correlations in ataxia telangiectasia patients with ATM c.3576G>A and c.8147T>C mutations.
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Genotype, extrapyramidal features and severity of variant Ataxia-Telangiectasia.
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Growth and nutrition in children with ataxia telangiectasia.
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Health risks for ataxia-telangiectasia mutated heterozygotes: a systematic review, meta-analysis and evidence-based guideline.
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Home-based Complex Intervention for Children With Ataxia Telangiectasia