Genetic Instabilities And Hereditary Neurological Diseases

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Genetic Instabilities and Hereditary Neurological Diseases

Author : Robert D. Wells
Publisher :
ISBN 13 :
Total Pages : 886 pages
Book Rating : 4.3/5 (91 download)

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Book Synopsis Genetic Instabilities and Hereditary Neurological Diseases by : Robert D. Wells

Download or read book Genetic Instabilities and Hereditary Neurological Diseases written by Robert D. Wells and published by . This book was released on 1998 with total page 886 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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

Author : Robert D. Wells
Publisher : Elsevier
ISBN 13 : 0080463770
Total Pages : 783 pages
Book Rating : 4.0/5 (84 download)

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Book Synopsis Genetic Instabilities and Neurological Diseases by : Robert D. Wells

Download or read book Genetic Instabilities and Neurological Diseases written by Robert D. Wells and published by Elsevier. This book was released on 2011-10-13 with total page 783 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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

Genetics and Neurology

Author : Sarah Bundey
Publisher : Elsevier
ISBN 13 : 1483281019
Total Pages : 355 pages
Book Rating : 4.4/5 (832 download)

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Book Synopsis Genetics and Neurology by : Sarah Bundey

Download or read book Genetics and Neurology written by Sarah Bundey and published by Elsevier. This book was released on 2014-04-24 with total page 355 pages. Available in PDF, EPUB and Kindle. Book excerpt: Genetics and Neurology focuses on disorders that affect the nervous system, including atrophies, neuropathies, and tumors. The book first examines malformations of the central nervous system, phacomatoses and tumors, and cerebral degenerative disorders of childhood. Topics include malformations of the corpus callosum and neighboring structures; abnormalities of closure of neural tube; spongiform leucodystrophy; and tumors of the nervous system. The text then takes a look at extrapyramidal disorders and dyskinesias and muscle disorders. The publication elaborates on spinal muscular atrophies (SMAs), cerebellar and spinocerebellar ataxias, and hereditary neuropathies. Discussions focus on hereditary motor and sensory neuropathies of infancy and early childhood; peripheral neuropathies and lipid disorders; and congenital cerebellar ataxias. The book also discusses spastic paraplegias and multifactorial inheritance and neurological diseases. The text is a valuable reference for readers interested in genetics and neurology.

The Molecular and Genetic Basis of Neurological Disease

Author : Roger N. Rosenberg
Publisher : Butterworth-Heinemann
ISBN 13 : 9780750696685
Total Pages : 0 pages
Book Rating : 4.6/5 (966 download)

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Book Synopsis The Molecular and Genetic Basis of Neurological Disease by : Roger N. Rosenberg

Download or read book The Molecular and Genetic Basis of Neurological Disease written by Roger N. Rosenberg and published by Butterworth-Heinemann. This book was released on 1997 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: This volume, which is at the cutting edge of the interface between clinical and basic neuroscience, will be of value to clinicians caring for patients with hereditary neurological disorders and for investigators concerned with the scientific issues that these disorders propose. Five editors and 108 contributing authors are responsible for the 66 chapters arranged in 22 parts: general topics, chromosomes, carbohydrate disorders, amino acids, purines, lipoprotein disorders, porphyrins, metal metabolism, peroxisomes, lysosomal disorders, vitamins, prions, muscle disorders, mitochondrial disorders, degenerative disorders, the phakomatoses--disorders of skin and brain, neuro-oncology, membrane excitibility disorders, neuronopathies and neuropathies, epilepsy, schizophrenia, and gene therapy and human genome. Annotation copyright by Book News, Inc., Portland, OR.

The Neuropathology of Huntington’s Disease: Classical Findings, Recent Developments and Correlation to Functional Neuroanatomy

Author : Udo Rüb
Publisher : Springer
ISBN 13 : 331919285X
Total Pages : 154 pages
Book Rating : 4.3/5 (191 download)

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Book Synopsis The Neuropathology of Huntington’s Disease: Classical Findings, Recent Developments and Correlation to Functional Neuroanatomy by : Udo Rüb

Download or read book The Neuropathology of Huntington’s Disease: Classical Findings, Recent Developments and Correlation to Functional Neuroanatomy written by Udo Rüb and published by Springer. This book was released on 2015-09-29 with total page 154 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.

The Genetics of Neurological Disorders

Author : Michael Baraitser
Publisher :
ISBN 13 :
Total Pages : 564 pages
Book Rating : 4.3/5 (91 download)

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Book Synopsis The Genetics of Neurological Disorders by : Michael Baraitser

Download or read book The Genetics of Neurological Disorders written by Michael Baraitser and published by . This book was released on 1985 with total page 564 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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

Glutamine Repeats and Neurodegenerative Diseases

Author : Peter S. Harper
Publisher : Oxford University Press, USA
ISBN 13 :
Total Pages : 352 pages
Book Rating : 4.3/5 (91 download)

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Book Synopsis Glutamine Repeats and Neurodegenerative Diseases by : Peter S. Harper

Download or read book Glutamine Repeats and Neurodegenerative Diseases written by Peter S. Harper and published by Oxford University Press, USA. This book was released on 2001 with total page 352 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.

Hyperkinetic Movement Disorders

Author : Alberto Albanese
Publisher : John Wiley & Sons
ISBN 13 : 1444346164
Total Pages : 413 pages
Book Rating : 4.4/5 (443 download)

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Book Synopsis Hyperkinetic Movement Disorders by : Alberto Albanese

Download or read book Hyperkinetic Movement Disorders written by Alberto Albanese and published by John Wiley & Sons. This book was released on 2012-03-07 with total page 413 pages. Available in PDF, EPUB and Kindle. Book excerpt: Hyperkinetic movement disorders comprise a range of diseases characterized by unwanted and uncontrollable, or poorly controllable, involuntary movements. The phenomenology of these disorders is quite variable encompassing chorea, tremor, dystonia, myoclonus, tics, other dyskinesias, jerks and shakes. Discerning the underlying condition can be very difficult given the range and variability of symptoms. But recognizing the phenomenology and understanding the pathophysiology are essential to ensure appropriate treatment. Hyperkinetic Movement Disorders provides a clinical pathway for effective diagnosis and management of these disorders. The stellar international cast of authors distils the evidence so you can apply it into your practice. The judicious use of diagnostic criteria algorithms rating scales management guidelines Provides a robust framework for clear patient management. Throughout the text, QR codes* provide smartphone access to case-study videos of hyperkinetic symptoms. Purchase includes an enhanced Wiley Desktop Edition.* This is an interactive digital version featuring: all text and images in fully searchable form integrated videos of presentations View a sample video: www.wiley.com/go/albanese highlighting and note taking facilities book marking linking to additional references Hyperkinetic Movement Disorders provides you with the essential visual and practical tools you need to effectively diagnose and treat your patients. *Full instructions for using QR codes and for downloading your digital Wiley DeskTop Edition are inside the book.

Cerebellar Disorders

Author : Mario Ubaldo Manto
Publisher : Cambridge University Press
ISBN 13 : 1139487264
Total Pages : 313 pages
Book Rating : 4.1/5 (394 download)

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Book Synopsis Cerebellar Disorders by : Mario Ubaldo Manto

Download or read book Cerebellar Disorders written by Mario Ubaldo Manto and published by Cambridge University Press. This book was released on 2010-03-25 with total page 313 pages. Available in PDF, EPUB and Kindle. Book excerpt: During the last three decades, many laboratories worldwide have dedicated their research activities to understanding the roles of the cerebellum in motor control, cognitive processes and the biology of mental processes, behavioral symptoms and emotion. These advances have been associated with discoveries of new clinical disorders, in particular in the field of genetic ataxias, and the growing number of diseases presents a source of difficulty for clinicians during daily practice. This practical guide summarizes and evaluates current knowledge in the field of cerebellar disorders. Encompassing details of both common and uncommon cerebellar ataxias, including vascular, immune, neoplastic, infectious, traumatic, toxic and inherited disorders, this book will assist clinicians in the diagnosis and management of the full spectrum of cerebellar ataxias encountered in daily practice. Essential reading for clinicians, including general practitioners, neurologists, pediatricians, radiologists, psychiatrists and neuropsychologists, this will also prove a valuable tool for students, trainees and researchers.

The Cerebellum and Its Disorders

Author : Mario Manto
Publisher : Cambridge University Press
ISBN 13 : 9780521771566
Total Pages : 620 pages
Book Rating : 4.7/5 (715 download)

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Book Synopsis The Cerebellum and Its Disorders by : Mario Manto

Download or read book The Cerebellum and Its Disorders written by Mario Manto and published by Cambridge University Press. This book was released on 2002 with total page 620 pages. Available in PDF, EPUB and Kindle. Book excerpt: The first comprehensive text on the cerebellum and its disorders for many years.

Marsden's Book of Movement Disorders

Author : Ivan Donaldson
Publisher : Oxford University Press
ISBN 13 : 0191502243
Total Pages : 1512 pages
Book Rating : 4.1/5 (915 download)

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Book Synopsis Marsden's Book of Movement Disorders by : Ivan Donaldson

Download or read book Marsden's Book of Movement Disorders written by Ivan Donaldson and published by Oxford University Press. This book was released on 2012-03-29 with total page 1512 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.

Magnetic Resonance of Myelin, Myelination, and Myelin Disorders

Author : Jacob Valk
Publisher : Springer Science & Business Media
ISBN 13 : 366202568X
Total Pages : 734 pages
Book Rating : 4.6/5 (62 download)

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Book Synopsis Magnetic Resonance of Myelin, Myelination, and Myelin Disorders by : Jacob Valk

Download or read book Magnetic Resonance of Myelin, Myelination, and Myelin Disorders written by Jacob Valk and published by Springer Science & Business Media. This book was released on 2013-04-17 with total page 734 pages. Available in PDF, EPUB and Kindle. Book excerpt: Magnetic resonance imaging (MRI) is now considered the imaging modality of choice for the majority of disorders affecting the central nervous system. This is particularly true for gray and white matter disorders, thanks to the superb soft tis sue contrast in MRI which allows gray matter, unmyelinated, and myelinated white matter to be distinguished and their respective disorders identified. The pre sent book is devoted to the disorders of myelin and myelination. A growing amount of detailed in vivo information about myelin, myelination, and myelin dis orders has been derived both from MRI and from MR spectroscopy (MRS). This prompted us to review the clinical, laboratory, biochemical, and pathological data on this subject in order to integrate all available information and to provide im proved insights into normal and disordered myelin and myelination. We will show how the synthesis of all available information contributes to the interpretation of MR images. After a brief historical review about the increasing knowledge on myelin and my elin disorders, we propose a new classification of myelin disorders based on the subcellular localization of the enzymatic defects as far as the inborn errors of me tabolism are concerned. This classification serves as a guide throughout the book. All items of the classification will be discussed and, whenever relevant and possi ble, be illustrated by MR images.

Neurogenetics

Author : Stefan-M. Pulst
Publisher : Contemporary Neurology
ISBN 13 : 9780195129755
Total Pages : 496 pages
Book Rating : 4.1/5 (297 download)

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Book Synopsis Neurogenetics by : Stefan-M. Pulst

Download or read book Neurogenetics written by Stefan-M. Pulst and published by Contemporary Neurology. This book was released on 2000 with total page 496 pages. Available in PDF, EPUB and Kindle. Book excerpt: Neurogenetics is intended for any physician or scientist who manages patients with inherited diseases of the nervous system. It presents the clinical phenotypes of the most commonly inherited neurologic diseases, and their molecular pathogenesis, followed by a description of the appropriate tests to be used in diagnosis. Two introductory chapters familiarize the nongeneticist with medical genetic terminology and molecular genetic techniques useful in the analysis of genetic disease and genetic testing. Subsequent chapters examine major neurologic disorders caused by single defects, as well as disease phenotypes such as Alzheimer disease or amyotrophic lateral sclerosis which may be caused by defects in single genes, but may also be seen as sporadic diseases. The genetic components of other common neurologic disorders, such as epilepsy, multiple sclerosis, migraine, and stroke are all covered in detail. The final chapter discusses genetic counseling of symptomatic and pre-symptomatic individuals. Throughout, chapters discuss genotype/phenotype correlations and, where appropriate, animal models for inherited human neurologic diseases. Several chapters are devoted to recently discovered diseases caused by unstable DNA repeats. Special emphasis is placed on conveying how DNA testing can be applied to the daily practice of geneticists and neurologists.

Stroke Genetics

Author : Hugh S. Markus
Publisher : Oxford Medical Publications
ISBN 13 : 0198515863
Total Pages : 362 pages
Book Rating : 4.1/5 (985 download)

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Book Synopsis Stroke Genetics by : Hugh S. Markus

Download or read book Stroke Genetics written by Hugh S. Markus and published by Oxford Medical Publications. This book was released on 2003 with total page 362 pages. Available in PDF, EPUB and Kindle. Book excerpt: Stroke is a major cause of death and the major cause of adult neurological disability in most of the world. Despite its importance on a population basis, research into the genetics of stroke has lagged behind that of many other disorders. However, the situation is now changing. Anincreasing number of single gene disorders causing stroke are being described, and there is growing evidence that polygenic factors are important in the risk of apparently "sporadic" stroke.Stroke Genetics provides an up-to-date review of the area, suitable for clinicians treating stroke patients, and both clinical and non-clinical researchers in the field of cerebrovascular disease. The full range of monogenic stroke disorders causing cerebrovascular disease, including ischaemicstroke, intracerebral haemorrhage, aneurysms and arteriovenous malformations, are covered. For each, clinical features, diagnosis, and genetics are described. Increasing evidence suggest that genetic factors are also important for the much more common multifactorial stroke; this evidence isreviewed along with the results of genetic studies in this area. Optimal and novel strategies for investigating multifactorial stroke, including the use of intermediate phenotypes such as intima-media thickness and MRI detected small vessel disease are reviewed. The book concludes by describing apractical approach to investigating patients with stroke for underlying genetic disorders. Also included is a list of useful websites.

Cerebral Small Vessel Disease

Author : Leonardo Pantoni
Publisher : Cambridge University Press
ISBN 13 : 1107031664
Total Pages : 375 pages
Book Rating : 4.1/5 (7 download)

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Book Synopsis Cerebral Small Vessel Disease by : Leonardo Pantoni

Download or read book Cerebral Small Vessel Disease written by Leonardo Pantoni and published by Cambridge University Press. This book was released on 2014-05 with total page 375 pages. Available in PDF, EPUB and Kindle. Book excerpt: Up-to-date discussion of the etiology, diagnosis, treatment, and prevention of this common cause of stroke and cognitive impairment.

Disorders of Voluntary Muscle

Author : George Karpati
Publisher : Cambridge University Press
ISBN 13 : 9780521650625
Total Pages : 800 pages
Book Rating : 4.6/5 (56 download)

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Book Synopsis Disorders of Voluntary Muscle by : George Karpati

Download or read book Disorders of Voluntary Muscle written by George Karpati and published by Cambridge University Press. This book was released on 2001-07-12 with total page 800 pages. Available in PDF, EPUB and Kindle. Book excerpt: Rewritten and redesigned, this remains the one essential text on the diseases of skeletal muscle.

Progressive Brain Disorders in Childhood

Author : Juan M. Pascual
Publisher : Cambridge University Press
ISBN 13 : 1107042054
Total Pages : 507 pages
Book Rating : 4.1/5 (7 download)

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Book Synopsis Progressive Brain Disorders in Childhood by : Juan M. Pascual

Download or read book Progressive Brain Disorders in Childhood written by Juan M. Pascual and published by Cambridge University Press. This book was released on 2017-04-20 with total page 507 pages. Available in PDF, EPUB and Kindle. Book excerpt: A review of childhood neurodegenerative and other progressive but non-degenerative disorders to guide their diagnosis and management.