E Book

Genotype - Proteotype - Phenotype Relationships in Neurodegenerative Diseases

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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.Protein misfolding and other abnormalities of protein metabolism are increasingly recognized as central mechanisms in the pathophysiology of neurodegenerative disorders. Amyloid beta protein disturbances in Alzheimer’s disease, tau and ubiquitin protein abnormalities in frontotemporal dementias, proteasome and alpha-synuclein disorders in Parkinson’s disease and dementia with Lewy bodies comprise central elements in these common neurodegenerative diseases. Improved understanding of role of protein dysmetabolism in neurodegeneration promises to improve diagnoses, facilitate the development of biological markers relevant to disease pathophysiology, and provide tractable therapeutic targets. This Fondation IPSEN conference summary provides an update on the latest advances of the role of protein misfolding in the pathophysiology of neurodegenerative diseases.

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Ketersediaan

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Informasi Detail

Judul Seri

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No. Panggil

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Penerbit

Berlin, Heidelberg : Springer., 2005

Deskripsi Fisik

XIII, 166 p.online resource.

Bahasa

English

ISBN/ISSN

9783540265221

Klasifikasi

612.8

Tipe Isi

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Tipe Media

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Tipe Pembawa

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Edisi

1st ed

Subjek

Neurosciences.
Neurology .
Neurology.

Info Detail Spesifik

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Pernyataan Tanggungjawab

J. Cummings, J. Hardy, M. Poncet.

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