Background Ataxia-telangiectasia is an autosomal recessive, multi-system, and life-
shortening disease caused by mutations in the ataxia-telangiectasia mutated gene …

There is a large increase in lymphoid malignancy in AT patients and a total absence of
myeloid tumors. Penetrance of the tumor phenotype is about 10% to 15% by early …

▪ Abstract The autosomal recessive human disorder ataxia-telangiectasia (AT) was first
described as a separate disease entity 40 years ago. It is a multisystem disease …

We report the spectrum of 59 ATM mutations observed in ataxia-telangiectasia (AT) patients
in the British Isles. Of 51 ATM mutations identified in families native to the British Isles, 11 …

Ataxia telangiectasia (AT) is characterized by neurological deterioration, immunodeficiency,
spontaneous chromosomal instability, hypersensitivity to ionizing radiation, predisposition to …

Ataxia-telangiectasia (AT) is an autosomal recessive disorder characterized by cerebellar
degeneration, immunodeficiency, chromosomal instability, radiosensitivity, and cancer …

Ataxia-telangiectasia (AT) is an autosomal recessive disorder involving cerebellar
degeneration, immunodeficiency, chromosomal instability, radiosensitivity and cancer …

High power, nanosecond pulsed electric field (nsPEF) effects have been focused on
bacterial decontamination, but the impact on mammalian cells is now being revealed …

The cloning of ATM in 1995, the gene responsible for ataxia-telangiectasia, opened a
dimension of biological research that is as complex and intriguing to cell biologists as this …

Human genomic instability syndromes affect the nervous system to different degrees of
severity, attesting to the vulnerability of the CNS to perturbations of genomic integrity and the …