Genotype-proteotype-phenotype relationships in neurodegenerative diseases
著者
書誌事項
Genotype-proteotype-phenotype relationships in neurodegenerative diseases
（Research and perspectives in Alzheimer's disease）
Springer, c2005
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注記
"Fondation IPSEN pour la recherche thérapeutique"--Cover
Papers presented at a meeting held September 13, 2004
Includes bibliographical references and index
内容説明・目次
内容説明
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.
目次
Neurodegenerative Disorders as Proteinopathies: Phenotypic Relationships.- Towards a Molecular Classification of Neurodegenerative Disease.- Racial and Ethnic Influences on the Expression of the Genotype in Neurodegenerative Diseases.- Causes and Consequences of Oxidative Stress in Neurodegenerative Diseases.- Early Onset Familial Alzheimer's Disease: Is a Mutation Predictive of Pathology?.- Identification of Genes that Modify the Age of Onset in a Large Familial Alzheimer's Disease Kindred.- Variable Phenotype of Alzheimer's Disease with Spastic Paraparesis.- Presenilin Mutations: Variations in the Behavioral Phenotype with an Emphasis on the Frontotemporal Dementia Phenoytpe.- Frontotemporal Dementias: Genotypes and Phenotypes.- Chromosome 17-Linked Frontotemporal Dementia with Ubiquitin-Positive, tau-Negative Inclusions.- Variations of the Phenotype in Frontotemporal Dementias.- Phenotype/Genotype Correlations in Parkinson's Disease.- Subject Index
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