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Titlebook: Genotype - Proteotype - Phenotype Relationships in Neurodegenerative Diseases; Jeffrey L. Cummings,Michel Poncet,Yves Christen Conference

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发表于 2025-3-21 17:53:03 | 显示全部楼层 |阅读模式
书目名称Genotype - Proteotype - Phenotype Relationships in Neurodegenerative Diseases
编辑Jeffrey L. Cummings,Michel Poncet,Yves Christen
视频video
丛书名称Research and Perspectives in Alzheimer‘s Disease
图书封面Titlebook: Genotype - Proteotype - Phenotype Relationships in Neurodegenerative Diseases;  Jeffrey L. Cummings,Michel Poncet,Yves Christen Conference
描述.Recent advances in understanding the role of protein dysmetabolism in neurodegeneration was the theme of the Fondation IPSEN meeting addressing Genotype-Proteotype-Phenotype relationships. Experts from international laboratories contributed to the  current volume to produce a comprehensive overview of the role of protein misfolding in neurodegeneration. Links between genotype and protein characteristics and between proteotype and clinical phenomenology were discussed across diseases categories. Progress in understanding the role of abnormalities of protein metabolism may lead to the identification of biological markers relevant to disease monitoring and to the development of new therapeutic agents capable of modifying and ameliorating basic neurodegenerative mechanisms..
出版日期Conference proceedings 2005
关键词Parkinson; Parkinson‘s disease; Proteinopathies; amyloid precursor protein; frontotemporal dementia phen
版次1
doihttps://doi.org/10.1007/b137738
isbn_softcover978-3-642-06395-4
isbn_ebook978-3-540-26522-1Series ISSN 0945-6066 Series E-ISSN 2196-310X
issn_series 0945-6066
copyrightSpringer-Verlag Berlin Heidelberg 2005
The information of publication is updating

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https://doi.org/10.1007/978-3-662-26337-2n APP and PS1 have been described. Second, in rare families with PS1 mutations, there are mutation-bearing individuals who may have escaped clinical disease. Third, some APP mutations alter the sequence of Aβ and lead to severe angiopathy with hemorrhage, rather than the plaques and tangles of AD. F
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,Early Onset Familial Alzheimer’s Disease: Is a Mutation Predictive of Pathology?,n APP and PS1 have been described. Second, in rare families with PS1 mutations, there are mutation-bearing individuals who may have escaped clinical disease. Third, some APP mutations alter the sequence of Aβ and lead to severe angiopathy with hemorrhage, rather than the plaques and tangles of AD. F
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