• admin@ataxiatelangiectasia.es
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  • Ataxia telangiectasia: more variation at clinical and cellular levels.
  • ATM Kinase Dead: From Ataxia Telangiectasia Syndrome to Cancer
  • Atm reactivation reverses ataxia telangiectasia phenotypes in vivo.
  • Childhood-Onset Movement Disorders Can Mask a Primary Immunodeficiency: 6 Cases of Classical Ataxia-Telangiectasia and Variant Forms
  • Longitudinal analysis of the neurological features of ataxia-telangiectasia.
  • Lymphoid tumours and breast cancer in ataxia telangiectasia; substantial protective effect of residual ATM kinase activity against childhood tumours.
  • Mild Neurological Phenotype Associated with Hypomorphic Variants in the Ataxia-Telangiectasia Mutated Gene
  • Mitochondrial redox sensing by the kinase ATM maintains cellular antioxidant capacity.
  • Neurodegeneration in ataxia-telangiectasia: Multiple roles of ATM kinase in cellular homeostasis.
  • New diagnosis of atypical ataxia-telangiectasia in a 17-year-old boy with T-cell acute lymphoblastic leukemia and a novel ATM mutation.
  • Premature ageing of the immune system underlies immunodeficiency in ataxia telangiectasia.
  • Stable brain ATM message and residual kinase-active ATM protein in ataxia-telangiectasia.
  • Telangiectasias in Ataxia Telangiectasia: Clinical significance, role of ATM deficiency and potential pathophysiological mechanisms.

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  • admin@ataxiatelangiectasia.es