Advances in the understanding of hereditary ataxia – implications for future patients
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چکیده
منابع مشابه
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15 صفحه اولhereditary ataxia
the hereditary ataxias comprise a wide spectrum of heterogeneous disorders that share three features: ataxia, involvement of cerebellum or its connections, and heritability. in many hereditary ataxias, the underlying gene mutations have been identified. knowledge of the causative mutations allows a rational classification of hereditary ataxias as autosomal recessive, autosomal dominant or mater...
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متن کاملTitubation in hereditary ataxia.
"AS THE DISEASE progresses some jerky irregularity develops in the movement of the neck and head so that the head presents slight movements, sometimes like an irregular tremor, sometimes simulating chorea". This is how Gowers in 1899 described the occurrence of titubation in hereditary ataxy in his book on the diseases of the nervous system. But this feature of hereditary ataxia seems to have r...
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ژورنال
عنوان ژورنال: Expert Opinion on Orphan Drugs
سال: 2018
ISSN: 2167-8707
DOI: 10.1080/21678707.2018.1444477