ArticleSudanese journal of paediatrics2023
Electrophysiology of ataxia-telangiectasia-like disorder 1.
Article in Sudanese journal of paediatrics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Abstract
Ataxia-telangiectasia-like disorder-1 (ATLD1, OMIM # 604391) is a very rare clinical condition, characterized by slowly progressive ataxia with onset in childhood, associated with oculomotor apraxia and dysarthria. Laboratory findings reveal increased susceptibility to radiation, with a defect in DNA repair. Patients with ATLD1 show no telangiectasia, have no immunodeficiency, and also have preserved cognition. Reflexes might be initially brisk and later becomes reduced associated with axonal sensorimotor neuropathy. Brain magnetic resonance imaging (MRI) detects cerebellar atrophy. The condition is caused by mutations in the meiotic recombination 11 (
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