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Title Genotype-proteotype-phenotype relationships in neurodegenerative diseases / J. Cummings [and others] (eds.)
Published Berlin ; New York : Springer, ©2005

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Description 1 online resource (xiii, 166 pages) : illustrations
Series Research and perspectives in Alzheimer's disease, 0945-6066
Research and perspectives in Alzheimer's disease. 0945-6066
Contents 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 Phenotype -- 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
Summary 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 identificat
Analysis biomedische wetenschappen
biomedicine
neurowetenschap
neuroscience
Medicine (General)
Geneeskunde (algemeen)
Bibliography Includes bibliographical references and index
Notes English
Print version record
In Springer e-books
Subject Nervous system -- Degeneration -- Genetic aspects
Nervous system -- Degeneration -- Congresses
Neurosciences.
Neurology.
Neurodegenerative Diseases -- genetics
Neurodegenerative Diseases -- physiopathology
Protein Folding
Neurosciences
Neurology
HEALTH & FITNESS -- Diseases -- Nervous System (incl. Brain)
MEDICAL -- Neurology.
Nervous system -- Degeneration.
Neurodegenerative Diseases -- genetics.
Neurodegenerative Diseases -- physiopathology.
Protein folding.
Nervous system -- Degeneration -- Genetic aspects.
Biomédecine.
Sciences de la vie.
Nervous system -- Degeneration
Nervous system -- Degeneration -- Genetic aspects
Genre/Form proceedings (reports)
Conference papers and proceedings
Conference papers and proceedings.
Actes de congrès.
Form Electronic book
Author Cummings, Jeffrey L., 1948-
Fondation IPSEN pour la recherche thérapeutique.
ISBN 9783540265221
3540265228
3540248358
9783540248354
6610304823
9786610304820
1280304820
9781280304828