نتایج جستجو برای: aprataxin aptx
تعداد نتایج: 112 فیلتر نتایج به سال:
Coenzyme Q10 (CoQ10) deficiency is an autosomal recessive disorder presenting five main phenotypes: an enchephalomyopathic form, a severe infantile neurological syndrome, a nephrotic form, a pure myopathic form and an ataxic form. The last one, the focus of this review, is the most common phenotype, characterized by childhood/ young adulthood-onset cerebellar ataxia and cerebellar atrophy as ma...
ataxia oculomotor apraxia1(aoa1) is the most frequent cause of autosomal-recessive cerebellar ataxia in japan,but it is reported from all of the world. the presentation is nearly identical to that of at without the non-neurological features,and accounts for up to 10% of autosomal-recessive cerebellar ataxias.gait imbalance and dysarthria are typical presenting features,oculomotor apraxia typica...
2005;64;539-541 Neurology Hirano C. M. Quinzii, A. G. Kattah, A. Naini, H. O. Akman, V. K. Mootha, S. DiMauro and M. mutation aprataxin Coenzyme Q deficiency and cerebellar ataxia associated with an This information is current as of September 27, 2007 http://www.neurology.org/cgi/content/full/64/3/539 located on the World Wide Web at: The online version of this article, along with updated infor...
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