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GINMU >
03 紀要 >
031 Journal of Nara Medical Association >
Vol.55 No.2 >
Please use this identifier to cite or link to this item:
http://hdl.handle.net/10564/224
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| Title: | GENETICS OF SPINOCEREBELLAR ATAXIAS |
| Authors: | Hirano, Makito
Ueno, Satoshi |
| Keywords: | autosomal dominant ataxia
autosomal recessive ataxia
polyglutamine disease |
| Issue Date: | 30-Apr-2004 |
| Publisher: | 奈良医学会 |
| Citation: | Journal of Nara Medical Association Vol.55 No.2 p.73-80 |
| Abstract: | Over the last decade, more than 25 genes responsible for spinocerebellar
ataxias (SCAs) have been isolated. This review classifies hereditary SCAs into two
groups: autosomal dominant and recessive ataxias, and sunmiarizes the genetic features
of these diseases with some clinical characteristics. The unraveling of the molecular
cause of a growing number of ataxia has revealed that these diseases are the
consequences of a large variety of different mechanisms, even involving novel,
unsuspected molecular pathways. The characterization of these pathways and their roles
of the causative proteins will guide research over the next several years. |
| URI: | http://hdl.handle.net/10564/224 |
| ISSN: | 13450069 |
| Appears in Collections: | Vol.55 No.2
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Files in This Item:
| File |
Description |
Size | Format |
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| 073-080p.GENETICS OF SPINOCEREBELLAR ATAXIAS.pdf | | 1183Kb | Adobe PDF | View/Open |
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