ATAXIA-TELANGIECTASIA
Ataxia Telangiectasia and Juvenile Idiopathic Arthritis
... typical ataxia telangiectasia (A-T) who developed juvenile idiopathic arthritis ...oculocutaneous telangiectasia, immunodeficiency, radiosensitivity, and predisposition to ...
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Clinico Radiological Correlation in Children with Ataxia Telangiectasia in Qatar
... [7] Verhagen, M.M., Last, J.I., Hogervorst, F.B., Smeets, D.F., Roeleveld, N., Verheijen, F., Catsman-Berrevoets, C.E., Wulffraat, N.M., Cobben, J.M., Hiel, J., Brunt, E.R., Peeters, E.A., Gomez Garcia, E.B., van der ...
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Cerebral Abnormalities in Adults with Ataxia Telangiectasia
... the Ataxia-Telangiectasia Clinical Center at our institution and underwent MR imaging between 2005 and ...including ataxia, dystonia, various forms of tremor, dysar- thria, oculomotor abnormalities, ...
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Consequences of the Delayed Diagnosis of Ataxia-Telangiectasia
... the Ataxia- Telangiectasia Clinical Center from July 1, 1995 to April 1, 1997 were reviewed to determine age of onset of gait abnormality, recognition of telangiectasia, and ...of ...
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ATAXIA TELANGIECTASIA WITH CEREBELLAR TUMOR
... The purpose of this report is to present two cases of ataxia telangiectasia which demonstrate the characteristic clinical fea- tures and immunological abnormalities.. One patient develop[r] ...
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Immunoglobulin metabolism in ataxia telangiectasia
... normal, increased, or decreased synthetic rates, respectively. Serum IgM concentration was normal in three cases and slightly elevated in two cases. IgM turnover studies in the three cases with normal serum IgM levels ...
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Ataxia-telangiectasia: future prospects
... ATM, ataxia-telangiectasia mutated gene; ATMiN, ATM interacting protein-acting as mediator of ATM activation in response to hypotonic stress or chloroquine treatment; FAT, FRAP, ATM, TRRAP; HeAT, ...
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Ataxia telangiectasia A case report
... Ataxia telangiectasia A case report Med J Malaysia Vol 35 No 2 December 1980 ATAXIA TELANGIECTASIA A Case Report A KANAGANAYAGAM SUMMARY CASE REPORT The patient is a 17 year old Indian male who was fi[.] ...
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Ataxia Telangiectasia Syndrome Revealed by Severe Pneumonia
... Ataxia Telangiectasia (AT) is a rare autosomal recessive multisystem ...lar ataxia, oculocutaneous signs (telangiectasia, coffee stain milk), immunodeficiency (humoral and cellular) with ...
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Safety and caregiver satisfaction with gastrostomy in patients with Ataxia Telangiectasia
... (gait ataxia, oculomotor dysfunction, dysarthria, and a movement disorder) and at least one of the following: oculocuta- neous telangiectasia, elevated serum levels of alpha- fetoprotein, or spontaneous or ...
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Ataxia telangiectasia and Rad3-related inhibitors and cancer therapy: where we stand
... species. Ataxia telangiectasia-mutated (ATM) checkpoint kinase 2 (CHK2) and ataxia telangiectasia and Rad3-related (ATR) checkpoint kinase 1 (CHK1) signals are two key pathways to initiate ...
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Ataxia Telangiectasia Mutated Kinase Controls Chronic Gammaherpesvirus Infection
... understood. Ataxia-telangiectasia (A-T) is associated with insufficiency of ataxia-telangiecta- sia mutated (ATM), a critical DNA damage response ...
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Ataxia-telangiectasia
... cerebellar ataxia, oculocutaneous telangiectasias, immunodeficiency, late-onset peripheral neuropathy, and higher incidence of infections and ...progressive ataxia/dyskinesia syndrome) have been associated ...
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Original Article Hepatitis B virus X stimulates redox signaling through activation of ataxia telangiectasia mutated kinase
... of ataxia telangiectasia mutated (ATM) kinase in the enhanced redox system was investigated by ex- amining the phosphorylation level of ATM in HBX gene-transfected cells and in transgenic mice following ...
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Is age a risk factor for liver disease and metabolic alterations in ataxia Telangiectasia patients?
... Background: Ataxia telangiectasia (A-T) is a neurodegenerative disease that leads to mitochondrial dysfunction and oxidative stress. Insulin resistance (IR), type 2 diabetes and the risk for development of ...
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p53 centrosomal localization diagnoses ataxia telangiectasia homozygotes and heterozygotes
... the ataxia-te- langiectasia mutated (ATM) gene, but heterozygous carriers, though apparently healthy, are believed to be at increased risk for cancer and more sensitive to ionizing radiation than the general ...
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Ataxia telangiectasia: a review
... AOA: Ataxia oculomotor apraxia; APTX: Aprataxin; A- T: Ataxia telangiectasia; ATLD: Ataxia telangiectasia like disorder; ATM: Ataxia telangiectasia mutated; BCM: Body cell ...
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The impact of glutamine supplementation on the symptoms of ataxia-telangiectasia: a preclinical assessment
... disease, ataxia- telangiectasia ...AD. Ataxia-telangiectasia is a recessive genetic condition of childhood neurodegenera- tive disease caused by mutations in the ATM ...
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Proton Spectroscopy and Imaging at 3T in Ataxia Telangiectasia
... This study examined a group of adult patients with A-T, show- ing marked cerebellar atrophy of the vermis and hemispheres in all. T2*-weighted gradient-echo imaging revealed multiple telangiectasias in 2 of the patients ...
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ATAXIA-TELANGIECTASIA: IMMUNOLOGIC AND VIROLOGIC STUDIES OF SERUM AND RESPIRATORY SECRETIONS
... mal individuals is associated with the -yA-, yG-, and 7M-immunoglobulins9”8 and in nasal secretions, with the yA-immunoglob- ulins.9 Following an upper respiratory in- fection, neutraliz[r] ...
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