- A multifaceted role for ATM in genome maintenance.
- A Novel ATM Gene Mutation Affecting Splicing in an Ataxia-Telangiectasia Patient
- A novel variant in ATM gene causes ataxia telangiectasia revealed by whole-exome sequencing.
- Association between ATM rs1801516 polymorphism and cancer susceptibility: a meta-analysis involving 12,879 cases and 18,054 controls.
- Astrocytes restore connectivity and synchronization in dysfunctional cerebellar networks.
- Ataxia telangiectasia: more variation at clinical and cellular levels.
- Ataxia-telangiectasia (A-T): An emerging dimension of premature ageing.
- Ataxia-Telangiectasia Mutated is located in cardiac mitochondria and impacts oxidative phosphorylation.
- ATM and the molecular pathogenesis of ataxia telangiectasia.
- ATM directs DNA damage responses and proteostasis via genetically separable pathways.
- ATM germline heterozygosity does not play a role in chronic lymphocytic leukemia initiation but influences rapid disease progression through loss of the remaining ATM allele.
- ATM orchestrates the DNA-damage response to counter toxic non-homologous end-joining at broken replication forks.
- ATM splicing variants as biomarkers for low dose dexamethasone treatment of A-T.
- Brain glucose metabolism in adults with ataxia-telangiectasia and their asymptomatic relatives.
- Case Report: Biallelic Loss of Function ATM due to Pathogenic Synonymous and Novel Deep Intronic Variant c.1803-270T > G Identified by Genome Sequencing in a Child With Ataxia-Telangiectasia
- Clinicopathological significance of ataxia telangiectasia-mutated (ATM) kinase and ataxia telangiectasia-mutated and Rad3-related (ATR) kinase in MYC overexpressed breast cancers.
- Functional Classification of the ATM Variant c.7157C>A and In Vitro Effects of Dexamethasone
- Genotype, extrapyramidal features and severity of variant Ataxia-Telangiectasia.
- Health risks for ataxia-telangiectasia mutated heterozygotes: a systematic review, meta-analysis and evidence-based guideline.
- Inactive Atm abrogates DSB repair in mouse cerebellum more than does Atm loss, without causing a neurological phenotype.
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