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

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Atassia teleangectasia
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  • admin@ataxiatelangiectasia.es