Genetic Instabilities And Hereditary Neurological Diseases
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Genetic Instabilities And Hereditary Neurological Diseases
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Author : Robert D. Wells
language : en
Publisher:
Release Date : 1998
Genetic Instabilities And Hereditary Neurological Diseases written by Robert D. Wells and has been published by this book supported file pdf, txt, epub, kindle and other format this book has been release on 1998 with Chromosome abnormalities categories.
This book represents the first authoritative review of all neurological diseases related to repeat expansions. Some of the diseases covered in this volume include fragile X syndrome, spino and bulbar muscular atrophy, myotonic dystrophy, spinocerebellar ataxia type 1 and type 7, Huntingtons disease, and Friedreichs ataxia. The book describes investigations into the underlying molecular mechanisms responsible for these syndromes. For students and researchers alike, Genetic Instabilities and Hereditary Neurological Diseases serves as a comprehensive treatise covering many aspects of all neurological diseases.
Genetic Instabilities And Neurological Diseases
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Author : Robert D. Wells
language : en
Publisher: Elsevier
Release Date : 2011-10-13
Genetic Instabilities And Neurological Diseases written by Robert D. Wells and has been published by Elsevier this book supported file pdf, txt, epub, kindle and other format this book has been release on 2011-10-13 with Medical categories.
Genetic Instabilities and Neurological Diseases covers DNA repeat instability and neurological disorders, covering molecular mechanisms of repeat expansion, pathogenic mechanisms, clinical phenotype, parental gender effects, genotype-phenotype correlation, and diagnostic applications of the molecular data. This updated edition provides updates of these repeat expansion mutations, including the addition of many new chapters, and old chapters rewritten as extensions of the previous edition. This book is an invaluable reference source for neuroscientists, geneticists, neurologists, molecular biologists, genetic counsellors and students. Contributions by most of the principal research teams in the area, edited by world-renowned leaders Lays the background for future investigations on related diseases
Trinucleotide Diseases And Instability
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Author : Ben A. Oostra
language : en
Publisher: Springer Science & Business Media
Release Date : 2013-06-05
Trinucleotide Diseases And Instability written by Ben A. Oostra 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 2013-06-05 with Science categories.
Till recently, mutations in genes were described in textbooks as deletions or point mutations. These mutations can be inherited from a parent or they are de novo alterations. The discovery in 1991 that human disease can be caused by large-scale ex pansion of highly unstable trinucleotide repeats has elucidated a new mutation mechanism, heritable unstable DNA. In the subsequent years more then 10 such disease genes have been identified. All dynamic mutations have been iden tified in neurological disorders. There are ten possible trinucleotide repeats at the DNA level, but only 3 have been identified as being involved in human dis eases. The rather frequent occurence of triplet repeats in the human genome indicates that other loci subject to unstable expansions may be discovered. The identification of repeat instability and the identification of disease genes containing trinucleotide repeats has helped to answer intriguing questions. The diseases share the unusual characteristic of inheritance with increased disease severity in successive gernerations, a phenomenon called anticipation. Trinu cleotide repeat diseases are ideal subjects for direct testing because the muta tion is almost exclusively of the same type and there is an extremely low occur ance of new mutations in these diseases. The anticipation can now be explained by the correlation of increasing repeat length with increased disease serverity. It can be speculated that other neurological disorders showing anticipation will be caused by unstable repeats as well.
The Genetics Of Neurological Disorders
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Author : Michael Baraitser
language : en
Publisher:
Release Date : 1985
The Genetics Of Neurological Disorders written by Michael Baraitser and has been published by this book supported file pdf, txt, epub, kindle and other format this book has been release on 1985 with Language Arts & Disciplines categories.
Thoroughly revised for the paperback edition, this practical volume describes the different modes of transmission of neurological conditions and how they may be identified, and assesses the risk of recurrence. The text is illustrated with photographs of representative clinical conditions and features extensive reference to the existing literature of genetic disorderss, both rare and common. From reviews of the cloth: "Well worth owning....An encyclopedic reference."--Journal of Nervous and Mental Disease. "Coherent, well-organized, extremely well-documented...with 134 pages of references....A fine book to take to the clinic, as well as the library."--The New England Journal of Medicine
The Neuropathology Of Huntington S Disease Classical Findings Recent Developments And Correlation To Functional Neuroanatomy
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Author : Udo Rüb
language : en
Publisher: Springer
Release Date : 2015-09-29
The Neuropathology Of Huntington S Disease Classical Findings Recent Developments And Correlation To Functional Neuroanatomy written by Udo Rüb and has been published by Springer this book supported file pdf, txt, epub, kindle and other format this book has been release on 2015-09-29 with Medical categories.
This monograph describes the progress in neuropathological HD research made during the last century, the neuropathological hallmarks of HD and their pathogenic relevance. Starting with the initial descriptions of the progressive degeneration of the striatum as one of the key events in HD, the worldwide practiced Vonsattel HD grading system of striatal neurodegeneration will be outlined. Correlating neuropathological data with results on the functional neuroanatomy of the human brain, subsequent chapters will highlight recent HD findings: the neuronal loss in the cerebral neo-and allocortex, the neurodegeneration of select thalamic nuclei, the affection of the cerebellar cortex and nuclei, the involvement of select brainstem nuclei, as well as the pathophysiological relevance of these pathologies for the clinical picture of HD. Finally, the potential pathophysiological role of neuronal huntingtin aggregations and the most important and enduring challenges of neuropathological HD research are discussed.
Glutamine Repeats And Neurodegenerative Diseases
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Author : Peter S. Harper
language : en
Publisher: Oxford University Press, USA
Release Date : 2001
Glutamine Repeats And Neurodegenerative Diseases written by Peter S. Harper and has been published by Oxford University Press, USA this book supported file pdf, txt, epub, kindle and other format this book has been release on 2001 with Glutamine categories.
This book focuses on the discovery of a common genetic basis for a group of inherited neurological disorders, including Huntington's Disease, spino-bulbar atrophy and a series of hereditary ataxias. This shared molecular background and other similarities have led to the development of theoretical models for the pathogenesis of these diseases. It is now also clear that the mechanisms involved are likely to be of more general relevance, outside of this particular group of disorders, with implications for other neurodegenerative processes such as those involved in Alzheimer's, Parkinson's and Prion diseases. The book is an edited and updated compilation evolving from a Royal Society discussion meeting
Neuromuscular Diseases
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Author : Feza Deymeer
language : en
Publisher: Karger Medical and Scientific Publishers
Release Date : 2000-01-01
Neuromuscular Diseases written by Feza Deymeer and has been published by Karger Medical and Scientific Publishers this book supported file pdf, txt, epub, kindle and other format this book has been release on 2000-01-01 with Medical categories.
This book reviews the electrophysiological, genetic and immunological bases of some of the major neuromuscular diseases and evaluates their importance pertaining to the clinical management of the patients. Included are up-to-date topics such as gene therapy, myoblast transfer and new drug trials. Written by experts in their own fields, this volume will not only be of great value to neurologists and neuroscientists, but also to geneticists, immunologists and physiologists.
Neurogenetics
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Author : Nicholas Wood
language : en
Publisher: Cambridge University Press
Release Date : 2012-04-12
Neurogenetics written by Nicholas Wood and has been published by Cambridge University Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2012-04-12 with Medical categories.
A coherent, up-to-date overview of the rapidly advancing field of neurogenetics for neurologists of any level.
Marsden S Book Of Movement Disorders
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Author : Ivan Donaldson
language : en
Publisher: Oxford University Press
Release Date : 2012-03-29
Marsden S Book Of Movement Disorders written by Ivan Donaldson and has been published by Oxford University Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2012-03-29 with Medical categories.
This book represents the final work of the late Professor C. David Marsden, who was the most influential figure in the field of movement disorders, in terms of his contributions to both research and clinical practice, in the modern era. It was conceived and written by David Marsden and his colleague at the Institute of Neurology, Prof. Ivan Donaldson. It was their intention that this would be the most comprehensive book on movement disorders and also that it would serve as the 'clinical Bible' for the management of these conditions. It provides a masterly survey of the entire topic, which has been made possible only by vast laboratory and bedside experience. Marsden's Book of Movement Disorders covers the full breadth of movement disorders, from the underlying anatomy and understanding of basal ganglia function to the diagnosis and management of specific movement disorders, including the more common conditions such as Parkinson's Disease through to rare, and very rare conditions such as Niemann-Pick disease. Chapters follow a structured format with historical overviews, definitions, clinical features, differential diagnosis, investigations and treatment covered in a structured way. It is extensively illustrated with many original photographs and diagrams of historical significance. Among these illustrations are still images of some original film clips of some of Dr. Marsden's patients published here for the first time. Comprehensively referenced and updated by experts from the Institute of Neurology at Queen Square, this book is a valuable reference for, not just movement disorder specialists and researchers, but also for clinicians who care for patients with movement disorders.
Progress In Nucleic Acid Research And Molecular Biology
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Author :
language : en
Publisher: Elsevier
Release Date : 2000-10-19
Progress In Nucleic Acid Research And Molecular Biology written by and has been published by Elsevier this book supported file pdf, txt, epub, kindle and other format this book has been release on 2000-10-19 with Science categories.
Nucleic acids are the fundamental building blocks of DNA and RNA and are found in virtually every living cell. Molecular biology is a branch of science that studies the physicochemical properties of molecules in a cell, including nucleic acids, proteins, and enzymes. Increased understanding of nucleic acids and their role in molecular biology will further many of the biological sciences including genetics, biochemistry, and cell biology. Progress in Nucleic Acid Research and Molecular Biology provides a forum for discussion of new discoveries, approaches, and ideas in molecular biology. It contains contributions from leaders in their fields and abundant references. Provides a forum for discussion of new discoveries, approaches, and ideas in molecular biology Features contributions from leaders in their fields Contains abundant references