Results 91 to 100 of about 46,967 (195)
Síndrome de Ataxia-Telangiectasia Ataxia-telangiectasia: a case report
Arquivos de Neuro-Psiquiatria, 1971 A ataxia-telangiectasia, doença de Mme. Louis-Bar, é caracterizada pela associação de ataxia cerebelar progressiva, em geral com início na primeira infância, telangiectasas óculo-cutâneas, movimentos coreoatetósicos, tendência a infecções repetidas do ...
Amauri Batista da Silva +4 more
doaj
Motor pathway degeneration in young ataxia telangiectasia patients: A diffusion tractography study
NeuroImage: Clinical, 2015 Background: Our understanding of the effect of ataxia–telangiectasia mutated gene mutations on brain structure and function is limited. In this study, white matter motor pathway integrity was investigated in ataxia telangiectasia patients using diffusion
Ishani Sahama +7 more
doaj +1 more source
Born early, age fast: Consequences of premature birth on chronic disease and accelerated ageing
The Journal of Physiology, EarlyView.Abstract figure legend ELGANs are exposed to several postnatal pro‐oxidant stressors, including ambient and supplemental oxygen, mechanical ventilation, infections, hyperalimentation, excessive glucocorticoids and intermittent hypoxia. Since endogenous antioxidant defences are underdeveloped, this imbalance promotes oxidative stress and inflammation ...
Estelle B. Gauda +5 more
wiley +1 more source
Jornal de Pediatria, 2006 OBJETIVO: Estudar a produção de anticorpos a antígenos polissacarídicos em pacientes com ataxia-telangiectasia CASUÍSTICA E MÉTODO: Utilizando a técnica de ELISA, determinamos os níveis de IgG aos sorotipos 1, 3, 5, 6B, 9V e 14 do pneumococo em 14 ...
Maria Cristina Guerra-Maranhão +7 more
doaj +1 more source
Ataxia telangiectasia: what the neurologist needs to know.
, 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.
core +2 more sources
International Journal of Cancer, Volume 159, Issue 8, Page 1857-1872, 15 October 2026.ABSTRACT Clinical trials combining radiotherapy (RT) with immune checkpoint blockade (ICB) have shown improved outcomes in only a fraction of patients, and optimal strategies for integrating these modalities remain under intense investigation. With a few exceptions, phase III combination trials have yielded disappointing results.
Xuanwei Zhang +10 more
wiley +1 more source
Walsh& Hoyt: Ataxia-Telangiectasia
, 2005 Ataxia-telangiectasia (A-T) is characterized by oculocutaneous telangiectasia, progressive cerebellar ataxia, recurrent sinopulmonary infections, hypersensitivity to ionizing radiation, and a high incidence of lymphoreticular neoplasms (37,686-690).
John Kerrison, MD
core +1 more source
International Journal of Cancer, Volume 159, Issue 8, Page 1873-1883, 15 October 2026.ABSTRACT Pancreatic ductal adenocarcinoma (PDAC) remains one of the deadliest cancers due to its asymptomatic progression, late‐stage diagnosis, and treatment resistance. Efforts in early detection have centered on identifying imaging features and liquid biopsy biomarkers capable of detecting PDAC and its high‐grade precursors before clinical symptoms ...
Christine Worthington +105 more
wiley +1 more source
Mre11 assembles linear DNA fragments into DNA damage signaling complexes.
PLoS Biology, 2004 Mre11/Rad50/Nbs1 complex (MRN) is essential to suppress the generation of double-strand breaks (DSBs) during DNA replication. MRN also plays a role in the response to DSBs created by DNA damage.
Vincenzo Costanzo +3 more
doaj +1 more source
Oxidative stress in ataxia telangiectasia [PDF]
, 2003 Ataxia telangiectasia is one of a group of recessive hereditary genomic instability disorders and is characterized by progressive neurodegeneration, immunodeficiency and cancer susceptibility.
Dianne J. Watters +2 more
core +1 more source