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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
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Premature ageing of the immune system underlies immunodeficiency in ataxia telangiectasia.
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Response of Individuals With Ataxia-Telangiectasia to Metformin and Pioglitazone (RAMP)
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Structures of closed and open conformations of dimeric human ATM.
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Targeting the Ataxia Telangiectasia Mutated-null phenotype in chronic lymphocytic leukemia with pro-oxidants.
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Telangiectasias in Ataxia Telangiectasia: Clinical significance, role of ATM deficiency and potential pathophysiological mechanisms.
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The Care and Management of Children and Young People with Ataxia Telangiectasia Provided by Nurses and Allied Health Professionals: a Scoping Review
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The natural history of ataxia-telangiectasia (A-T): A systematic review
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Trajectories of motor abnormalities in milder phenotypes of ataxia telangiectasia.
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Update on the management of the immunodeficiency in ataxia-telangiectasia.
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White Matter Hyperintensities and Cerebral Microbleeds in Ataxia-Telangiectasia