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A germline chromothripsis event stably segregating in 11 individuals through three generations.
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A new ataxia-telangiectasia mutation in an 11-year-old female.
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Ataxia telangiectasia: why should the ERS care?
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Ataxia-telangiectasia: recommendations for multidisciplinary treatment.
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Causative mechanisms and clinical impact of immunoglobulin deficiencies in ataxia telangiectasia
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Chromosome instability syndromes.
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Genomic profiling of Acute lymphoblastic leukemia in ataxia telangiectasia patients reveals tight link between ATM mutations and chromothripsis.
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Genotype-phenotype correlations in ataxia telangiectasia patients with ATM c.3576G>A and c.8147T>C mutations.
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Genotype, extrapyramidal features and severity of variant Ataxia-Telangiectasia.
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Health risks for ataxia-telangiectasia mutated heterozygotes: a systematic review, meta-analysis and evidence-based guideline.
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Inactive Atm abrogates DSB repair in mouse cerebellum more than does Atm loss, without causing a neurological phenotype.
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Nicotinamide Riboside Improves Ataxia Scores and Immunoglobulin Levels in Ataxia Telangiectasia
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Recognition of genetic predisposition in pediatric cancer patients: An easy-to-use selection tool
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Recommendations for Childhood Cancer Screening and Surveillance in DNA Repair Disorders.
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Simple Measurement of IgA Predicts Immunity and Mortality in Ataxia-Telangiectasia
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Telangiectasias in Ataxia Telangiectasia: Clinical significance, role of ATM deficiency and potential pathophysiological mechanisms.
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Trajectories of motor abnormalities in milder phenotypes of ataxia telangiectasia.
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Treatment of acute leukemia in children with ataxia telangiectasia (A-T).
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