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