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Atassia teleangectasia
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  • Management of Individuals With a Mutation in the Ataxia Telangiectasia Mutated Gene.
  • Management of individuals with heterozygous germline pathogenic variants in ATM: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)
  • Microglial Self-Recognition STINGs in A-T Neurodegeneration.
  • More Than Ataxia: Hyperkinetic Movement Disorders in Childhood Autosomal Recessive Ataxia Syndromes.
  • NAD+ Replenishment Improves Lifespan and Healthspan in Ataxia Telangiectasia Models via Mitophagy and DNA Repair.
  • NAD+: The convergence of DNA repair and mitophagy.
  • New diagnosis of atypical ataxia-telangiectasia in a 17-year-old boy with T-cell acute lymphoblastic leukemia and a novel ATM mutation.
  • Newborn screening for SCID identifies patients with ataxia telangiectasia.
  • Non-hodgkin B-cell lymphoma of the ovary in a child with Ataxia-telangiectasia.
  • Novel Compound Heterozygous Mutation c.3955_3958dup and c.5825C>T in the ATM Gene: Clinical Evidence of Ataxia-Telangiectasia and Cancer in a Peruvian Family
  • Ocular manifestations of ataxia-telangiectasia.
  • Oligo-/monoclonal gammopathy and hypergammaglobulinemia in ataxia-telangiectasia. A study of 90 patients.
  • Overcoming ATM Deficiency by Activating the NAD+/SIRT1 Axis.
  • Past and Present of Eye Movement Abnormalities in Ataxia-Telangiectasia.
  • Pilot study of modified LMB-based therapy for children with ataxia-telangiectasia and advanced stage high grade mature B-cell malignancies.
  • Pioglitazone as a Possible Treatment for Ataxia-Telangiectasia
  • Polysomnographic values in adolescents with ataxia telangiectasia.
  • Possible control of cell death pathways in ataxia telangiectasia. A case report.
  • Prevalence and outcomes of cancer and treatment-associated toxicities for patients with ataxia telangiectasia
  • Proteomic Characterization of Cerebrospinal Fluid from Ataxia-Telangiectasia (A-T) Patients Using a LC/MS-Based Label-Free Protein Quantification Technology.

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Atassia teleangectasia
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  • admin@ataxiatelangiectasia.es