نتایج جستجو برای: oculomotor apraxia
تعداد نتایج: 7081 فیلتر نتایج به سال:
Ataxia oculomotor apraxia-1 is a neurological disorder that arises from mutations in the gene encoding the protein aprataxin. A recent study demonstrates that aprataxin is critical for the processing of obstructive DNA termini, suggesting a broader role for DNA single-strand break repair in neurodegenerative disease.
Although AOA1 (ataxia oculomotor apraxia1) is one of the most common causes of autosomal recessive cerebellar ataxias in Japanese population, it is reported from all over the world. The clinical manifestations are similar to ataxia telangiectasia in which non-neurological manifestations are absent and include almost 10% of autosomal recessive cerebellar ataxias. Dysarthria and gait disorder are...
The etiology of ESRD under the age of 20 almost is the inherited kidney disease or congenital disorders of urinary tract. NPHP/ medullary cystic disease includes a group of tubulo- genetic kidney disorders. NPHP is the cause of 15-20% ESRD in children and adolescents. The extra renal manifestations include: oculomotor Apraxia(Cogan syndrome), mental retardation, retinitis pigmentosa, (Senior-...
Ataxia with ocular motor apraxia type 1 (AOA1) is an autosomal recessive cerebellar ataxia (ARCA) associated with oculomotor apraxia, hypoalbuminaemia and hypercholesterolaemia. The gene APTX, which encodes aprataxin, has been identified recently. We studied a large series of 158 families with non-Friedreich progressive ARCA. We identified 14 patients (nine families) with five different missens...
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