搜索结果: 1-6 共查到“Ataxia”相关记录6条 . 查询时间(0.059 秒)
Enzootic ataxia associated with copper deficiency in a farmed red deer:a case report
Cervus elaphus enzootic ataxia copper diagnosis
2015/10/9
The occurrence of enzootic ataxia in a farmed red deer (Cervus elaphus) is reported. A nine-year-old male presented with progressive ataxia, hind limb weakness, sudden falling down while running and t...
Identification and characterization of altered mitochondrial protein acetylation in Friedreich's ataxia cardiomyopathy
Identification and characterization mitochondrial protein acetylation
2015/5/21
Friedreich’s Ataxia (FRDA) is a rare and poorly understood autosomal recessive disease caused by a pathological deficiency of the mitochondrial protein frataxin. Patients suffer neurodegeneration, ata...
16th Ataxia-Telangiectasia Workshop (ATW)
Relative international seminar automatic white balance disease ATM machines volunteers
2015/1/8
The International A-T Workshops (ATW) have been held every few years since 1980. The meeting is unique in that it focuses comprehensively on the various facets of A-T, the disease, and ATM function. M...
Vitamin E in ataxia and neurodegenerative diseases: A review
Vitamin E Neurodegenerative Diseases Ataxia with Vitamin E Deficiency
2013/2/20
Vitamin E is one of the most important lipid-soluble antioxidants. It is essential for the neurological function but its role in the central nervous system has not fully been elucidated. It is known t...
Spinocerebellar Ataxia With a Novel Chromosomal Defect: Del 5q34 - A case report
Spinocerebellar ataxia inherited and cytogenetic study
2009/6/23
Spinocerebellar ataxias (SCA) are inherited through autosomal dominant, autosomal recessive, and X-linked patterns, and may be seen sporadically (1-4). Cerebellar findings are the main clinical charac...
ATM Gene Mutations Detection in Iranian Ataxia-Telangiectasia Patients
ToAtaxia-Telangiectasia Gene Mutations
2010/2/1
Ataxia-Telangiectasia (AT) is an autosomal recessive disorder involving cerebellar degeneration, immunodeficiency, radiation sensitivity and cancer predisposition. The ATM gene on human chromosome 11q...