Results 1 to 10 of about 65,541 (228)
Myoclonus in Ataxia-Telangiectasia
Tremor and Other Hyperkinetic Movements, 2015 Background: Various movement disorders can be found in ataxia-telangiectasia (AT), including ataxia, dystonia, chorea, and myoclonus, but myoclonus has rarely been described as the predominant feature in AT.
Pichet Termsarasab +2 more
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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.
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Challenging Physiotherapy for Children with Ataxia Telangiectasia
, 2008 The aim of this article is to provide insight in the challenges for physiotherapists in assessment and treatment of the rare, degenerative and grave neurological disease Ataxia Telangiectasia (AT).
Trudy Burgers, Ellen Velema
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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
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Ataxia telangiectasia bemutatása egy eset kapcsán
, 2017 Az ataxia telangiectasia egy nagyon heterogén és ritka kórkép, melynek incidenciája 1:20000. Az Egyesült Államokban élő kaukázusi populáció 1,4-2 %-a hordozó.
Bunkóczi, Csilla
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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.
John Kerrison, MD
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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
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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
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, 2022 Ataxia telangiectasia (A-T) is a rare neurodegenerative immunodeficiency syndrome, characterised eponymously by progressive cerebellar ataxia and telangiectatic vessels, most often cutaneous. A-T displays autosomal recessive inheritance, is characterised
Perry, C, Kimble, R
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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
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