Audiological findings in children with ataxia-telangiectasia (A-T) syndrome.
Sign Up to like & getrecommendations! Published in 2017 at "International journal of pediatric otorhinolaryngology"
DOI: 10.1016/j.ijporl.2016.11.012
Abstract: AIM To assess peripheral and central hearing in children with A-T. METHOD 3 children diagnosed with A-T according to the diagnostic criteria for A-T of the European Society for Immunodeficiencies. Involuntary movements were seen in… read more here.
Keywords: central hearing; findings children; ataxia telangiectasia; children ataxia ... See more keywords
Ataxia telangiectasia syndrome: moonlighting ATM
Sign Up to like & getrecommendations! Published in 2017 at "Expert Review of Clinical Immunology"
DOI: 10.1080/1744666x.2017.1392856
Abstract: ABSTRACT Introduction: Ataxia-telangiectasia (A-T) a multisystem disorder primarily characterized by cerebellar degeneration, telangiectasia, immunodeficiency, cancer susceptibility and radiation sensitivity. Identification of the gene defective in this syndrome, ataxia-telangiectasia mutated gene (ATM), and further characterization of… read more here.
Keywords: telangiectasia; ataxia telangiectasia; syndrome moonlighting; telangiectasia syndrome ... See more keywords
Loss of atm in Zebrafish as a Model of Ataxia–Telangiectasia Syndrome
Sign Up to like & getrecommendations! Published in 2022 at "Biomedicines"
DOI: 10.3390/biomedicines10020392
Abstract: Ataxia–telangiectasia mutated (ATM) is a key DNA damage signaling kinase that is mutated in humans with ataxia–telangiectasia (A-T) syndrome. This syndrome is characterized by neurodegeneration, immune abnormality, cancer predisposition, and premature aging. To better understand… read more here.
Keywords: ataxia telangiectasia; telangiectasia syndrome; loss; zebrafish model ... See more keywords