The history of spinocerebellar ataxia type 10 in Brazil: travels of a gene
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چکیده
منابع مشابه
The history of spinocerebellar ataxia type 10 in Brazil: travels of a gene.
The authors report the history of spinocerebellar ataxia 10 (SCA10), since its first report in a large Portuguese-ancestry family with autosomal dominant pure cerebellar ataxia, till the final identification of further families without Mexican ancestry. These families present a quite different phenotype from those SCA10 families described in Mexico.
متن کاملromantic education:reading william wordsworths the prelude in the light of the history of ideas
عصر روشنگری زمان شکل گیری ایده های مدرن تربیتی- آموزشی بود اما تاکید بیش از اندازه ی دوشاخه مهم فلسفی زمان یعنی عقل گرایی و حس گرایی بر دقت و وضوح، انسان عصر روشنگری را نسبت به دیگر تواناییهایش نابینا کرده و موجب به وجود آمدن افرادی تک بعدی شد که افتخارعقلانیتشان، تاکید شان بر تجربه فردی، به مبارزه طلبیدن منطق نیاکانشان وافسون زدایی شان از دنیا وتمام آنچه با حواس پنجگانه قابل درک نبوده و یا در ...
the investigation of the relationship between type a and type b personalities and quality of translation
چکیده ندارد.
Spinocerebellar ataxia type 6 in Brazil.
Spinocerebellar ataxia type 6 (SCA 6) is an autosomal dominant cerebellar ataxia caused by CAG repeat expansion in the SCA6 gene, a alpha 1A voltage-dependent calcium channel subunit gene on chromosome 19p13. SCA-6 is characterized predominantly by slowly progressive pure cerebellar ataxia with late onset. We report three index patients, with pure, late onset, cerebellar ataxia, belonging to th...
متن کاملCognitive impairment in Spinocerebellar ataxia type 10
Background: Cognitive and psychiatric dysfunction has been described in several neurodegenerative diseases but has not been systematically evaluated in spinocerebellar ataxia type 10 (SCA10). Objective: The aim of the present study was to investigate the core cognitive features in a large cohort of Brazilian patients with SCA10, comparing the results against a healthy control group. Methods: Tw...
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ژورنال
عنوان ژورنال: Arquivos de Neuro-Psiquiatria
سال: 2007
ISSN: 0004-282X
DOI: 10.1590/s0004-282x2007000600008