Results 31 to 40 of about 115,141 (275)

Management of a pediatric patient with ataxia telangiectasia: Report of a rare case in which diagnostic radiographs are contraindicated

Journal of Family Medicine and Primary Care, 2020
Ataxia telangiectasia is a rare neurodegenerative autosomal recessive multisystem disorder which has been reported only once in the dental literature.
Mebin George Mathew
doaj   +1 more source

Ataxia telangiectasia: what the neurologist needs to know

Practical Neurology, 2020
Ataxia telangiectasia is an autosomal recessive DNA repair disorder characterised by complex neurological symptoms, with an elevated risk of malignancy, immunodeficiency and other systemic complications.
M. Tiet, R. Horvath, A. Hensiek
semanticscholar   +1 more source

Disorders of Upper Limb Movements in Ataxia-Telangiectasia. [PDF]

PLoS ONE, 2013
Ataxia-telangiectasia is known for cerebellar degeneration, but clinical descriptions of abnormal tone, posture, and movements suggest involvement of the network between cerebellum and basal ganglia.
Aasef G Shaikh, David S Zee, Allen S Mandir, Howard M Lederman, Thomas O Crawford   +4 more
doaj   +1 more source

More Than Ataxia: Hyperkinetic Movement Disorders in Childhood Autosomal Recessive Ataxia Syndromes

Tremor and Other Hyperkinetic Movements, 2016
Background: The autosomal recessive ataxias are a heterogeneous group of disorders that are characterized by complex neurological features in addition to progressive ataxia.
Toni S. Pearson
doaj   +1 more source

Ataxia-telangiectasia With Acute Rheumatic Fever: A Case Report [PDF]

Journal of Pediatrics Review, 2023
Background: Ataxia-telangiectasia is a multi-organ disease. It is due to a mutation of the Exon No. 5 ataxia telangiectasia mutated gene (c.381delA: p.v128fls).
Mohammad Reza Khosravi, Ghazal Abbasi, Leila Shahbaznejad, Javad Ghaffari, Abbas Dabghzade   +4 more
doaj  

Ataxia telangiectasia and Rad3-related inhibitors and cancer therapy: where we stand

Journal of Hematology & Oncology, 2019
BackgroundThe ataxia telangiectasia and Rad3-related (ATR) checkpoint kinase 1 (CHK1) pathway plays an essential role in suppressing replication stress from DNA damage and oncogene activation.Main bodyPreclinical studies have shown that cancer cells with
Lin Mei, Junran Zhang, K. He, Jingsong Zhang   +3 more
semanticscholar   +1 more source

Cervical dystonia and no oculomotor apraxia as new manifestation of ataxia-telangiectasia-like disorder 1 – case report and review of the literature

Frontiers in Neurology, 2023
Ataxia-telangiectasia-like disorder 1 (ATLD1) is a rare neurodegenerative disorder associated with early onset ataxia and oculomotor apraxia. The genetic determination of ATLD1 is a mutation in the MRE11 gene (meiotic recombination 11 gene), which causes
Agnieszka Bajek, Dominika Przewodowska, Dariusz Koziorowski, Maria Jędrzejowska, Maria Jędrzejowska, Stanisław Szlufik   +5 more
doaj   +1 more source

Discovery and Characterization of AZD6738, a Potent Inhibitor of Ataxia Telangiectasia Mutated and Rad3 Related (ATR) Kinase with Application as an Anticancer Agent.

Journal of Medicinal Chemistry, 2018
The kinase ataxia telangiectasia mutated and rad3 related (ATR) is a key regulator of the DNA-damage response and the apical kinase which orchestrates the cellular processes that repair stalled replication forks (replication stress) and associated DNA ...
K. Foote, J. W. M. Nissink, T. McGuire, P. Turner, Sylvie M. Guichard, James W. T. Yates, A. Lau, Kevin Blades, D. Heathcote, R. Odedra, G. Wilkinson, Zena Wilson, Christine M. Wood, P. Jewsbury   +13 more
semanticscholar   +1 more source

Association of Tumor Protein p53 and Ataxia-Telangiectasia Mutated Comutation With Response to Immune Checkpoint Inhibitors and Mortality in Patients With Non–Small Cell Lung Cancer

JAMA Network Open, 2019
This cohort study examines the association of comutation of tumor protein p53 (TP53) and ataxia-telangiectasia mutated (ATM) genes with response to immune checkpoint inhibitor (ICI) treatment and overall survival among patients with non–small cell lung ...
Yu Chen, Gang Chen, Jin Li, Yingying Huang, Yi Li, Jing Lin, Lizhu Chen, Jianye Lu, Yu-Qi Wang, Chang-Xi Wang, L. K. Pan, X. Xia, X. Yi, Chuanben Chen, Xiong-wei Zheng, Zengqing Guo, Jian-Ji Pan   +16 more
semanticscholar   +1 more source

Ataxia-telangiectasia and combined hepatocellular-cholangiocarcinoma: A case report

Indian Journal of Pathology and Microbiology, 2023
Ataxia-telangiectasia (A-T) is a rare autosomal recessive disease characterized by ataxia, cutaneous and ocular telangiectasia, impaired immunity with susceptibility to sino-pulmonary infections, radiation sensitivity, and cancers particularly of hemato ...
Tej P Singh, Shraddha Patkar, Mahesh Goel, Munita Bal Menon   +3 more
doaj   +1 more source