ataxia

(redirected from Ataxia-telangiectasia)
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Related to Ataxia-telangiectasia: Ataxia telangiectasia mutated
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Synonyms for ataxia

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The incidence of ataxia-telangiectasia is about 1 case in 100,000 births.
Boder, "Ataxia-telangiectasia: an overview," Kroc Foundation Series, vol.
Chris Gibson, Ph.D., CEO of Recursion Pharmaceuticals remarked: “We are grateful to the A-T Children's Project for this award which will enable us to rapidly deploy our innovative drug discovery technology towards Ataxia-telangiectasia. As a young company, the support and trust of foundations like the A-T-Children's Project is critical to our ability to apply our technology across as many diseases as possible.”
Immunodeficiency and infections in ataxia-telangiectasia. J Pediatr 2004;144: 505-11.
By selling donated books and bric a brac the following amounts have been raised and donated since last September: pounds 50 to Normanby Gardening Club; pounds 40 to Christmas Shoe Box Appeal; pounds 50 to Air Ambulance; pounds 40 to Eston Handicapped; pounds 40 to Donkey Sanctuary; pounds 60 to Ataxia-Telangiectasia Society; pounds 65 to RNLI; pounds 50 to Macmillan Nurses.
ATM mutations that cause ataxia-telangiectasia are breast cancer susceptibility alleles.
* Context.--The ataxia-telangiectasia mutated (ATM) gene encodes a nuclear 370-kd phosphoprotein known to be associated with chromosomal regions containing doublestrand breaks.
These conditions include molluscum, ataxia-telangiectasia, syndromes with eczema, or those that already carry an increased risk of infection or malignancies.
Ataxia-telangiectasia (A-T) [1] is a progressive neurodegenerative disorder characterized by a wide range of clinical manifestations, including cerebellar ataxia, conjunctival telangiectases, recurrent sinopulmonary infections, radiosensitivity, and increased cancer susceptibility (1).
Localization of an ataxia-telangiectasia gene to an approximately 500kb interval on chromosome 11 q23.1: linkage analysis of 176 families by an international consortium.
Members of the phosphatidylinositol 3-kinase--related kinase (PIKK) family such as DNA-activated protein kinase (DNA-PK) and ataxia-telangiectasia mutated (ATM) have been implicated in the phosphorylation of p53 at Ser15 (Giaccia and Kastan 1998; Lakin and Jackson 1999; Meek 1998).
The most commonly tested genetic disorders include the spinocerebellar ataxias or SCAs, Friedreich's ataxia, and ataxia-telangiectasia (AT).
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