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

Ataxia‐telangiectasia is a rare, neurodegenerative, and multisystem disease, characterized
by cerebellar ataxia, oculocutaneous telangiectasia, immunodeficiency, progressive …

Abstract Ataxia‐telangiectasia (A‐T) is an autosomal recessive neurodegenerative disorder
with multisystem involvement and cancer predisposition, caused by mutations in the A‐T …

Ataxia-telangiectasia (AT) is a neurodegenerative disorder characterized by ataxia,
telangiectasia, and immunodeficiency. An increased risk of malignancies and respiratory …

This article summarizes evident and recent findings on the characteristics of the neurological
phenotype in ataxia telangiectasia (AT), reviews neuropathological and neuroradiological …

Patients with ataxia-telangiectasia (AT) suffer from progressive cerebellar ataxia,
immunodeficiency, respiratory failure, and cancer susceptibility. From a clinical point of view …

ABSTRACT Introduction: Ataxia-telangiectasia (AT) a multisystem disorder primarily
characterized by cerebellar degeneration, telangiectasia, immunodeficiency, cancer …

Introduction: For twenty years, two paradigms have been considered as the main genetic
contributors to immunoglobulin A deficiency, including cytogenetic defects involving large …

ATM is an apical kinase of the DNA damage response involved in the repair of DNA double-
strand breaks. Germline ATM variants (gATM) have been associated with an increased risk …

Background Pediatric cerebrocerebellar neurodegenerative disorders such as ataxia-
telangiectasia (AT) have not been examined in detail for neuropsychologic changes. Such …