Genotype Phenotype Correlation In Parkinsonian Conditions
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Genotype Phenotype Correlation In Parkinsonian Conditions
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Author : Luca Marsili
language : en
Publisher: Frontiers Media SA
Release Date : 2021-10-13
Genotype Phenotype Correlation In Parkinsonian Conditions written by Luca Marsili and has been published by Frontiers Media SA this book supported file pdf, txt, epub, kindle and other format this book has been release on 2021-10-13 with Medical categories.
Genotype Proteotype Phenotype Relationships In Neurodegenerative Diseases
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Author : Jeffrey L. Cummings
language : en
Publisher: Springer Science & Business Media
Release Date : 2005-04
Genotype Proteotype Phenotype Relationships In Neurodegenerative Diseases written by Jeffrey L. Cummings and has been published by Springer Science & Business Media this book supported file pdf, txt, epub, kindle and other format this book has been release on 2005-04 with Medical categories.
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
Leucine Rich Repeat Kinase 2 Lrrk2
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Author : Hardy J. Rideout
language : en
Publisher: Springer
Release Date : 2017-03-28
Leucine Rich Repeat Kinase 2 Lrrk2 written by Hardy J. Rideout and has been published by Springer this book supported file pdf, txt, epub, kindle and other format this book has been release on 2017-03-28 with Medical categories.
This is the first book to assemble the leading researchers in the field of LRRK2 biology and neurology and provide a snapshot of the current state of knowledge, encompassing all major aspects of its function and dysfunction. The contributors are experts in cell biology and physiology, neurobiology, and medicinal chemistry, bringing a multidisciplinary perspective on the gene and its role in disease. The book covers the identification of LRRK2 as a major contributor to the pathogenesis of Parkinson's Disease. It also discusses the current state of the field after a decade of research, putative normal physiological roles of LRRK2, and the various pathways that have been identified in the search for the mechanism(s) of its induction of neurodegeneration.
Etiology Of Parkinson S Disease
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Author : Jonas H. Ellenberg
language : en
Publisher: CRC Press
Release Date : 1995-03-01
Etiology Of Parkinson S Disease written by Jonas H. Ellenberg and has been published by CRC Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 1995-03-01 with Medical categories.
This comprehensive reference provides a detailed overview of current concepts regarding the cause of Parkinson's disease-emphasizing the issues involved in the design, implementation, and analysis of epidemiological studies of parkinsonism.
Recent Progress In Alzheimer S And Parkinson S Diseases
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Author : Israel Hanin
language : en
Publisher: CRC Press
Release Date : 2005-06-03
Recent Progress In Alzheimer S And Parkinson S Diseases written by Israel Hanin and has been published by CRC Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2005-06-03 with Medical categories.
This book brings together the proceedings of Alzheimer's and Parkinson's Diseases: New Perspectives, the Sixth International Conference on Alzheimer's Disease and Parkinson's Disease, held recently in Seville, Spain, and discusses the latest developments in the basic science and therapy of Alzheimer's and Parkinson's diseases by leading specialists
Neuroacanthocytosis Syndromes
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Author : Adrian Danek
language : en
Publisher: Springer Science & Business Media
Release Date : 2006-07-09
Neuroacanthocytosis Syndromes written by Adrian Danek and has been published by Springer Science & Business Media this book supported file pdf, txt, epub, kindle and other format this book has been release on 2006-07-09 with Medical categories.
Neuroacanthocytosis Syndromes is the first comprehensive review of a field that has not yet received the attention it deserves. Affecting the brain as well as the circulating red cells, these multi-system disorders in the past had often been mistaken for Huntington's disease. Recent breakthroughs have now identified the molecular basis of several of these. This volume grew out of the first international scientific meeting ever devoted to neuroacanthocytosis and provides in-depth information about the state of the art. Its thirty chapters were written by the leading authorities in the field to cover the clinical as well as the basic science perspective, including not only molecular genetics but also experimental pharmacology and cell membrane biology, among others. The book vehemently poses the question of how the membrane deformation of circulating red blood cells relates to degeneration of nerve cells in the brain, the basal ganglia, in particular. It provides a wealth of data that will help to solve an intriguing puzzle and ease the suffering of those affected by one of the neuroacanthocytosis syndromes.
Principles And Practice Of Movement Disorders E Book
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Author : Joseph Jankovic
language : en
Publisher: Elsevier Health Sciences
Release Date : 2011-04-01
Principles And Practice Of Movement Disorders E Book written by Joseph Jankovic and has been published by Elsevier Health Sciences this book supported file pdf, txt, epub, kindle and other format this book has been release on 2011-04-01 with Medical categories.
Principles and Practice of Movement Disorders provides the complete, expert guidance you need to diagnose and manage these challenging conditions. Drs. Stanley Fahn, Joseph Jankovic and Mark Hallett explore all facets of these disorders, including the latest rating scales for clinical research, neurochemistry, clinical pharmacology, genetics, clinical trials, and experimental therapeutics. This edition features many new full-color images, additional coverage of pediatric disorders, updated Parkinson information, and many other valuable updates. An accompanying Expert Consult website makes the content fully searchable and contains several hundred video clips that illustrate the manifestations of all the movement disorders in the book along with their differential diagnoses. Get just the information you need for a clinical approach to diagnosis and management, with minimal emphasis on basic science. Find the answers you need quickly and easily thanks to a reader-friendly full-color format, with plentiful diagrams, photographs, and tables. Apply the latest advances to diagnosis and treatment of pediatric movement disorders, Parkinson disease, and much more. View the characteristic presentation of each disorder with a complete collection of professional-quality, narrated videos online. Better visualize every concept with new full-color illustrations throughout. Search the complete text online, follow links to PubMed abstracts, and download all of the illustrations, at www.expertconsult.com.
Parkinson S Disease Second Edition
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Author : Ronald F. Pfeiffer
language : en
Publisher: CRC Press
Release Date : 2012-10-09
Parkinson S Disease Second Edition written by Ronald F. Pfeiffer and has been published by CRC Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2012-10-09 with Science categories.
In recent years, considerable advances have been made in our knowledge and understanding of Parkinson's disease (PD). In particular, there has been an explosion of information regarding genetic contributions to the etiology of PD and an increased awareness of the importance of the non-motor features of the disease. Theories regarding the pathogenesis and pathophysiology of PD have also been refined, and new treatment modalities and advances implemented. Reflecting these changes, this second edition features new chapters devoted to genetic aspects of PD, non-motor features of the disease, and aspects of the pathophysiology, pathogenesis, and treatment of PD.
Atypical Parkinsonian Disorders
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Author : Irene Litvan
language : en
Publisher: Springer Science & Business Media
Release Date : 2007-10-27
Atypical Parkinsonian Disorders written by Irene Litvan and has been published by Springer Science & Business Media this book supported file pdf, txt, epub, kindle and other format this book has been release on 2007-10-27 with Medical categories.
A comprehensive review of what is known not only about the cause and treatment of atypical parksonian disorders, but also the issues that clinicians, researchers, patients, and caregivers face in dealing with them. The authors cover the basic science (history, epidemiology, genetics, pathology, nosology, computer modeling, and animal models), detailed clinical and laboratory assessments, and available diagnostic tools, including neuropsychiatric, neurologic, neuropsychologic, speech, electrophysiologic, and imaging evaluations. Current and future therapeutic approaches are also detailed, along with extensive discussions about future research directions.
The Importance Of Iron In Pathophysiologic Conditions
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Author : Raffaella Gozzelino
language : en
Publisher: Frontiers Media SA
Release Date : 2015-06-09
The Importance Of Iron In Pathophysiologic Conditions written by Raffaella Gozzelino and has been published by Frontiers Media SA this book supported file pdf, txt, epub, kindle and other format this book has been release on 2015-06-09 with Science (General) categories.
The iron element (Fe) is strictly required for the survival of most forms of life, including bacteria, plants and humans. Fine-tuned regulatory mechanisms for Fe absorption, mobilization and recycling operate to maintain Fe homeostasis, the disruption of which leads to Fe overload or Fe depletion. Whereas the deleterious effect of Fe deficiency relies on reduced oxygen transport and diminished activity of Fe-dependent enzymes, the cytotoxicity induced by Fe overload is due to the ability of this metal to act as a pro-oxidant and catalyze the formation of highly reactive hydroxyl radicals via the Fenton chemistry. This results in unfettered oxidative stress generation that, by inducing protein, lipid and DNA oxidation, leads to Fe-mediated programmed cell death and organ dysfunction. Major and systemic Fe overloads occurring in hemochromatosis and Fe-loading anemias have been extensively studied. However, localized tissue Fe overload was recently associated to a variety of pathologies, such as infection, inflammation, cancer, cardiovascular and neurodegenerative disorders. In keeping with the existence of cross-regulatory interactions between Fe homeostasis and the pathophysiology of these diseases, further investigations on the mechanisms that provide cellular and systemic adaptation to tissue Fe overload are instrumental for future therapeutic approaches. Thus, we encourage our colleagues to submit original research papers, reviews, perspectives, methods and technology reports to contribute their findings to a current state of the art on a comprehensive overview of the importance of iron metabolism in pathophysiologic conditions.