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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
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Immune deficiency in Ataxia-Telangiectasia: a longitudinal study of 44 patients.
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Immunodeficiency in ataxia telangiectasia is correlated strongly with the presence of two null mutations in the ataxia telangiectasia mutated gene.
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Longitudinal analysis of the neurological features of ataxia-telangiectasia.
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Lymphoid tumours and breast cancer in ataxia telangiectasia; substantial protective effect of residual ATM kinase activity against childhood tumours.
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Management of individuals with heterozygous germline pathogenic variants in ATM: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)
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Mechanisms of Non-canonical Activation of Ataxia Telangiectasia Mutated.
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Microbiological surveillance in lung disease in ataxia telangiectasia.
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Modeling ATM mutant proteins from missense changes confirms retained kinase activity.
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Multidisciplinary care of children and young people with ataxia-telangiectasia.
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Peripheral neuropathy in ataxia-telangiectasia: Newly characterized, has potential as a biomarker