Genotype - Proteotype - Phenotype Relationships in Neurodegenerative Diseases PDF Download
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Author: Jeffrey L. Cummings
Publisher: Springer Science & Business Media
ISBN: 9783540248354
Category : Medical
Languages : en
Pages : 192
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Book Description
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
Author: Jeffrey L. Cummings
Publisher: Springer Science & Business Media
ISBN: 9783540248354
Category : Medical
Languages : en
Pages : 192
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Book Description
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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Languages : en
Pages :
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Book Description
Author: J. Cummings
Publisher: Springer Science & Business Media
ISBN: 3540265228
Category : Medical
Languages : en
Pages : 173
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Book Description
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.
Author:
Publisher:
ISBN: 0198569270
Category : Medical
Languages : en
Pages : 545
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Book Description
Many clinicians within neurology remain unaware of the significant advances that have taken place in the field of cognitive neuroscience in the last decades, and how these might affect clinical practice. This book provides an introduction to the cognitive and behavioral aspects of the clinical practice of neurology.
Author: Peter H. St.George-Hyslop
Publisher: Springer Science & Business Media
ISBN: 3540879412
Category : Medical
Languages : en
Pages : 188
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Book Description
Many adult onset neurodegenerative diseases arise from the accumulation of misfolded peptides. This book examines the role sub-cellular trafficking pathways play in the pathological accumulation of these misfolded proteins and in attempts to clear them.
Author: Thomas Curran
Publisher: Springer Science & Business Media
ISBN: 3642166024
Category : Medical
Languages : en
Pages : 171
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Book Description
Homeostasis involves a delicate interplay between generative and degenerative processes to maintain a stable internal environment. In biological systems, equilibrium is established and controlled through a series of negative feedback mechanisms driven by a range of signal transduction processes. Failures in these complex communication pathways result in instability leading to disease. Cancer represents a state of imbalance caused by an excess of cell proliferation. In contrast, neurodegeneration is a consequence of excessive cell loss in the nervous system. Both of these disorders exhort profound tolls on humanity and they have been subject to a great deal of research designed to ameliorate this suffering. For the most part, the topics have been viewed as distinct and rarely do opportunities arise for transdisciplinary discussions among experts in both fields. However, cancer and neurodegeneration represent yin-yang counterpoints in the regulation of cell growth, and it is reasonable to hypothesize that key regulatory events mediated by oncogenes and tumor suppressor genes in cancer may also affect neurodegenerative processes
Author: Mathias Jucker
Publisher: Springer Science & Business Media
ISBN: 3540376526
Category : Medical
Languages : en
Pages : 541
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Book Description
Few medical or scientific addresses have so unmistakeably made history as the presentation delivered by Alois Alzheimer on November 4, 1906 in Tübingen. The celebratory event "Alzheimer 100 Years and Beyond" was organized through the Alzheimer community in Germany and worldwide, in collaboration with the Fondation Ipsen. This volume, a collection of articles by the invited speakers and of a few other prominent researchers, is published as a record of those events.
Author: Dennis J. Selkoe
Publisher: Springer Science & Business Media
ISBN: 3540763309
Category : Medical
Languages : en
Pages : 186
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Book Description
A biochemical hypothesis - that Alzheimer’s disease (AD) is a progressive cerebral amyloidosis caused by the aggregation of the amyloid b-protein (Ab) - preceded and enabled the discovery of etiologies. This volume serves as a record focused on bringing together investigators at the forefront of elucidating the structure and function of hippocampal synapses with investigators focused on understanding how early assemblies of Ab may compromise some of these synapses.
Author: C. Edward Coffey
Publisher: American Psychiatric Pub
ISBN: 1585623717
Category : Medical
Languages : en
Pages : 802
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Book Description
Rev. ed. of: The American Psychiatric Press textbook of geriatric neuropsychiatry. 2nd ed. 2000.
Author: Charles Duyckaerts
Publisher: Elsevier
ISBN: 0080559867
Category : Medical
Languages : en
Pages : 936
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Book Description
This volume provides a comprehensive understanding of the biology of dementias, including information on advancements in the way these disorders are perceived and studied. From earlier assumptions that cognitive deficits were simply age related, this handbook progresses into complex discussions of the diseases that affect the cortex of the human brain. Clinicians will find extensive diagnostic and research perspectives on a variety of interesting topics, including neuropathology, physiopathology, biology, clinics, and imaging information on all, or most, of the dementing disorders currently known. In addition, chapters devoted to legal and ethical issues give practitioners and health care workers an informative view on complex dementias and the way these disorders affect patients and families. Clinicians in all levels of expertise will find useful and synthetic information. * Comprehensive information on advancements in the study and diagnosis of dementias * Complex discussions of the diseases that affect the cortex of the human brain * Extensive diagnostic and research perspectives on topics including, but not limited to, neuropathology, physiopathology, and groundbreaking imaging techniques * A reference guide that is appropriate for clinicians in all levels of expertise, from researchers to basic health care providers
