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Ataxia-telangiectasia: without ataxia or telangiectasia?
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Ataxia-telangiectasia.
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ATM directs DNA damage responses and proteostasis via genetically separable pathways.
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ATM gene founder haplotypes and associated mutations in Polish families with ataxia-telangiectasia.
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ATM germ line pathogenic variants affect outcomes in children with ataxia-telangiectasia and hematological malignancies
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Atm reactivation reverses ataxia telangiectasia phenotypes in vivo.
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ATM-deficiency-induced microglial activation promotes neurodegeneration in ataxia-telangiectasia
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ATM-dependent activation of SIM2s regulates homologous recombination and epithelial-mesenchymal transition.
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Bilateral maculopathy in a patient with ataxia telangiectasia.
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Blood Neurofilament Light Chain in Genetic Ataxia: A Meta-Analysis
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Brain glucose metabolism in adults with ataxia-telangiectasia and their asymptomatic relatives.
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Cerebral abnormalities in adults with ataxia-telangiectasia.
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Characteristic Eye Movements in Ataxia-Telangiectasia-Like Disorder: An Explanatory Hypothesis.
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Chromosome instability syndromes.
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Cognitive phenotype in ataxia-telangiectasia.
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Consequences of the delayed diagnosis of ataxia-telangiectasia.
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Cross-talk between DNA damage response and the central carbon metabolic network underlies selective vulnerability of Purkinje neurons in ataxia-telangiectasia
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Current and potential therapeutic strategies for the treatment of ataxia-telangiectasia.
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Dermatofibrosarcoma protuberans in a pediatric patient with ataxia telangiectasia syndrome.
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Disorders of Upper Limb Movements in Ataxia-Telangiectasia.