• admin@ataxiatelangiectasia.es
Ataxia-telangiectasia
  • Início
  • O que é A-T?
  • Notícias
    • 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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    Ataxia-telangiectasia
      • Início
      • O que é A-T?
      • Notícias
      • admin@ataxiatelangiectasia.es