Results 1 to 10 of about 115,141 (275)

The natural history of ataxia-telangiectasia (A-T): A systematic review.

PLoS ONE, 2022
BackgroundAtaxia-telangiectasia is an autosomal recessive, multi-system, and life-shortening disease caused by mutations in the ataxia-telangiectasia mutated gene.
Emily Petley, Alexander Yule, Shaun Alexander, Shalini Ojha, William P Whitehouse   +4 more
doaj   +2 more sources

Ataxia telangiectasia: a review

Orphanet Journal of Rare Diseases, 2016
Definition of the disease Ataxia telangiectasia (A-T) is an autosomal recessive disorder primarily characterized by cerebellar degeneration, telangiectasia, immunodeficiency, cancer susceptibility and radiation sensitivity.
Cynthia Rothblum-Oviatt, Jennifer Wright, Maureen A. Lefton-Greif, Sharon A. McGrath-Morrow, Thomas O. Crawford, Howard M. Lederman   +5 more
doaj   +2 more sources

Sarcoidosis-like Skin Lesions as the First Manifestation of Ataxia-Telangiectasia [PDF]

Children
Ataxia-telangiectasia is a rare autosomal recessive disorder that is difficult to diagnose due to its unpredictable presentation. It is characterized by cerebellar degeneration, telangiectasias, immunodeficiency, frequent pulmonary infections, and tumors.
Borko Milanovic, Gordana Vijatov-Djuric, Andrea Djuretic, Jelena Kesic, Vesna Stojanovic, Milica Jaric, Ognjen Ležakov   +6 more
doaj   +2 more sources

A 10-Year-Old Boy With Ataxia-Telangiectasia: A Rare Case Report From Yemen [PDF]

Clinical Medicine Insights: Case Reports
Background: Ataxia telangiectasia (A-T) is an uncommon autosomal recessive disorder, affecting 1 to 2 individuals per 100 000 live births. It results from mutations in the ATM gene.
Maher Muneer, Anas Al-Kubati, Asma’a Al-Ghashm, Laila Albaseer, Bilal Sleiay, Abdullah Alkubati, Majed Shallan, Betoul Mohammad Alhofari, Laila Salama Daas   +8 more
doaj   +2 more sources

Ataxia-Telangiectasia

Pediatric Neurology Briefs, 1990
The proportion of T-cell antigen receptors in ten patients with ataxia-telangiectasia were compared with normal subjects and patients with other immune deficits at the Departments of Clinical Immunology and Pediatrics, University of Rome, “la Sapienza ...
J Gordon Millichap
doaj   +2 more sources

Loss of CD98HC phosphorylation by ATM impairs antiporter trafficking and drives glutamate toxicity in Ataxia telangiectasia [PDF]

Nature Communications
Ataxia-telangiectasia is a rare genetic disorder characterized by neurological defects, immunodeficiency, cancer predisposition, radiosensitivity, decreased blood vessel integrity, and diabetes. ATM, the protein mutated in Ataxia-telangiectasia, responds
July Carolina Romero, Sonal S. Tonapi, Manish Parihar, Eva Loranc, Henry E. Miller, Liesl A. Lawrence, Nicklas Bassani, Daniel G. Robledo, Lin Cao, Jia Nie, Kairi Kanda, Aiola Stoja, Natalia Garcia, Aparna Gorthi, Brian J. Stoveken, Teresa W-M Fan, Teresa A. Cassel, Shan Zha, James D. Lechleiter, Nicolas Musi, Lily Q. Dong, Andrew N. Lane, Alexander J. R. Bishop   +22 more
doaj   +2 more sources

My A–T pack: a qualitative study of the utility, acceptability, design, and content of a family-designed and owned information pack relevant to the lives of children and young people living with ataxia telangiectasia [PDF]

Orphanet Journal of Rare Diseases
Background Ataxia telangiectasia (A–T) is a rare genetic and progressive condition, primarily affecting the neurological, immunological, and pulmonary systems.
Munira Khan, Elizabeth Cassidy, Tracey Parkin, Amanda Wallace, Bernie Carter, William Whitehouse, James Munro, Joanne Paton, A.-Team Collaborative, Lisa Bunn   +9 more
doaj   +2 more sources

Recurrent cutaneous collagenous vasculopathy in a heterozygote carrier for the ataxia telangiectasia mutated gene: A case report. [PDF]

JAAD Case Rep
Alaka C, Tomczak L, Ilyas EN.
europepmc   +2 more sources

Long‐Term Nicotinamide Riboside Use Improves Coordination and Eye Movements in Ataxia Telangiectasia

Movement Disorders, 2023
Supplementation of nicotinamide riboside (NR) ameliorates neuropathology in animal models of ataxia telangiectasia (A‐T). In humans, short‐term NR supplementation showed benefits in neurological outcome.
Rebecca Presterud, Wei Hai Deng, A. Wennerström, Trudy Burgers, Bharat Gajera, Kirsten Mattsson, Agnes Solberg, Evandro Fei Fang, Anni I Nieminen, A. Stray-Pedersen, H. Nilsen   +10 more
semanticscholar   +1 more source

Ataxia-telangiectasia mutated plays an important role in cerebellar integrity and functionality

Neural Regeneration Research, 2023
Accumulating evidence indicates that ataxia-telangiectasia mutated kinase is critical for maintaining cellular homeostasis and that it has both nuclear and cytoplasmic functions. However, the functions of ataxia-telangiectasia mutated that when lost lead
Yulia Mitiagin, Ari Barzilai
doaj   +1 more source