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Анналы клинической и экспериментальной неврологии
Article . 2013
Data sources: CyberLeninka - Russian open access scientific library
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Наследственные нейродегенерации с накоплением железа в мозге

descriptionPublicationkeyboard_double_arrow_right Article 01 Jan 2013 Russian Publisher:Федеральное государственное бюджетное научное учреждение «Научный центр неврологии»Journal:Анналы клинической и экспериментальной неврологии (issn: 2075-5473, eissn: 2409-2533 , Copyright policy )

Наследственные нейродегенерации с накоплением железа в мозге

Abstract

Нейродегенерации с накоплением железа в мозге (ННЖМ) – клинически и генетически гетерогенная группа наследственных (преимущественно аутосомно-рецессивных) прогрессирующих болезней ЦНС с общим признаком – накоплением железа в базальных ганглиях, дающим характерную картину при нейровизуализации. В настоящее время идентифицировано 9 генов, связанных с разными ННЖМ, часть из этих генов обусловливают развитие несколько аллельных фенотипов. В обзоре суммированы современные клинические и молекулярно-генетические данные о ННЖМ, особенно о новых формах и атипичных клинических вариантах.

Keywords

НЕЙРОДЕГЕНЕРАЦИИ С НАКОПЛЕНИЕМ ЖЕЛЕЗА В МОЗГЕ,ГЕНЕТИЧЕСКАЯ ГЕТЕРОГЕННОСТЬ,ДНК-ДИАГНОСТИКА,МРТ,БАЗАЛЬНЫЕ ГАНГЛИИ,ЭКСТРАПИРАМИДНЫЕ РАССТРОЙСТВА

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    popularity
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    		 Average
    influence
    This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
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    impulse
    This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
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selected citations
These citations are derived from selected sources.
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
0
Average
Average
Average
gold