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A new ataxia-telangiectasia mutation in an 11-year-old female.
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A Patient-Specific Stem Cell Model to Investigate the Neurological Phenotype Observed in Ataxia-Telangiectasia.
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A rat model of ataxia-telangiectasia: evidence for a neurodegenerative phenotype.
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Altered corticomotor-cerebellar integrity in young ataxia telangiectasia patients.
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An anaplerotic approach to correct the mitochondrial dysfunction in ataxia-telangiectasia (A-T)
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Ataxia telangiectasia in a three-year-old-girl.
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Ataxia Telangiectasia iPSC line generated from a patient olfactory biopsy identifies novel disease-causing mutations
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Ataxia telangiectasia: a syndrome deserving attention and study.
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ATM germ line pathogenic variants affect outcomes in children with ataxia-telangiectasia and hematological malignancies
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Biomarkers in Ataxia-Telangiectasia: a Systematic Review
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BrAshA-T
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Current and potential therapeutic strategies for the treatment of ataxia-telangiectasia.
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Dietary and lifestyle interventions for the management of hereditary ataxias
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Generating SM(a)RTer compounds for translation termination suppression in A-T and other genetic disorders.
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Governor of Queensland Celebrates Ataxia Telangiectasia Clinical Trial
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Human iPSC-Derived Cerebellar Neurons from a Patient with Ataxia-Telangiectasia Reveal Disrupted Gene Regulatory Networks.
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Increased susceptibility of airway epithelial cells from ataxia-telangiectasia to S. pneumoniae infection due to oxidative damage and impaired innate immunity.
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Loss of ATM in Airway Epithelial Cells Is Associated with Susceptibility to Oxidative Stress.
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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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Metabolic Stress and Mitochondrial Dysfunction in Ataxia-Telangiectasia
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