Triple Repeat Diseases Of The Nervous Systems

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Triple Repeat Diseases Of The Nervous Systems

Author : Lubov T. Timchenko
ISBN : 9781461501176
Genre : Medical
File Size : 28.96 MB
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World of Unstable Mutations The book "Triplet Repeat Diseases of the Nervous System" overviews the lat est data on several disorders associated with unstable mutations. This field of re search is progressing extremely fast. The number of polymorphic mutations and diseases caused by these mutations is increasing almost every month. There is a strong interest to molecular bases of triplet repeat disorders. This is explained by growing necessity to develop molecular approaches for cure of these diseases. There fore, the authors of this book describe unstable mutations with the emphasis on molecular pathology. Broad discussion is presented on how polymorphic expan sions cause cell dysfunction. o The first chapter of the book focuses on the molecular pathological pro cesses that originate "unstable" mutations. The authors review several avail able models by which normal "stable" region of DNA become pathogenic and discuss possible mechanisms causing DNA instability. o The other chapters of the book describe inherited diseases associated with different types of unstable mutations. Based on the location of mutation in the disease gene, polymorphic expansions of the nervous system can be divided into two major groups. First group includes disorders with unstable expansions within the open reading frame of the gene such as Spinocer ebellar Ataxias caused by polyglutamine expansions. The second group in cludes diseases caused by expansions situated within the untranslated re gions of the gene.
Category: Medical

Trinucleotide Repeat Protocols

Author : Yoshinori Kohwi
ISBN : 9781592598045
Genre : Cytology
File Size : 55.67 MB
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Established leaders in trinucleotide repeat disease describe in step-by-step detail their best techniques for studying trinucleotide pathology at the molecular level. The protocols cover a variety of targets, ranging from DNA and RNA to proteins and whole animals, and focus not only on causal genes, but also on their consequent affected products, such as transcription factors, neurotransmitter receptors, proteasomes, and mitochondria/oxidation damage.
Category: Cytology


Author : Ted M. Dawson
ISBN : 9780470672686
Genre : Medical
File Size : 80.60 MB
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This book unites the diverse range of complex neurodegenerative diseases into a textbook designed for clinical practice, edited by globally leading authorities on the subject. Presents a clinically oriented guide to the diseases caused by neurodegeneration Templated chapters combine clinical and research information on neurodegenerative diseases beginning with the common elements before treating each disease individually Diseases are grouped by anatomical regions of degeneration and include common disorders such as Parkinson’s Disease, Alzheimer’s Disease, Amyotrophic Lateral Sclerosis/Motor Neuron Disease, and Multiple Sclerosis as well as less common diseases Edited by globally leading authorities on the subject, and written by expert contributing authors
Category: Medical

The Molecular And Genetic Basis Of Neurologic And Psychiatric Disease

Author : Roger N. Rosenberg
ISBN : 0781769566
Genre : Medical
File Size : 24.68 MB
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Completely updated for its Fourth Edition, this book is the most comprehensive, current review of the molecular and genetic basis of neurologic and psychiatric diseases. More than 120 leading experts provide a fresh, new assessment of recent molecular, genetic, and genomic advances, offer new insights into disease pathogenesis, describe the newest available therapies, and explore promising areas of therapeutic development. This edition features an updated section on psychiatric disease and expanded, updated chapters on human genomics, gene therapy, and ethical issues. Six new chapters cover congenital myasthenic syndromes, hereditary spastic paraplegia, ion channel disorders, the phakomatoses, beta-galactosidase deficiency, and prion diseases. A Neurologic Gene Map describes the chromosome locus of all the genetic diseases and their gene product where known. The fully searchable online text will be available on a companion Website. (
Category: Medical

The Encyclopedia Of Neuropsychological Disorders

Author : Arthur MacNeill Horton, Jr., EdD, ABPP, ABPN
ISBN : 9780826198556
Genre : Psychology
File Size : 42.13 MB
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"I am pleased to include this text in my library, and I am confident that it will serve as an excellent resource for years to come."--PsycCRITIQUES This book serves as an A-Z reference that addresses the neuropsychological aspects of 300 neurological, neuropsychiatric, and neuromedical disorders. Each entry follows a 5 section structure that will cover (1) essential features of the disorder (2) physiological basis of the disorder (3) neuropsychological and other clinical presentation (4) assessment and diagnostic practices (5) evidence-based treatments and interventions. This book is written for clinical professionals and students in training to aid in clinical awareness, diagnostic accuracy, and intervention successfulness. The text goes beyond the emotional and behavioral aspects of each disorder and views the broader impacts of the symptoms. This approach emphasizes the importance of looking at the other functional impacts of these manifestations (e.g. cognitive deficits secondary to depression, orthodopaedic ambulation issues). The emphasis on neuropsychological sequelae, physiological basis, and means of diagnosing and treating of 300 conditions across the lifespan make this the most comprehensive resource available to professionals in and around neuropsychology, neuropsychiatry and the behavioral neurosciences. Key Features: Presents 300 highly-structured entries providing disorder features, pathology and physiology, clinical representation, assessment and diagnosis, and evidence-based treatments and interventions Covers neurological, neuropsychiatric, and neuromedical disorders across the lifespan (pediatric, adult, and geriatric populations) Includes interventions and methods of treatment for the outcomes patients may experience
Category: Psychology

Neurological Functions Of The Masterswitch Protein Kinase Gsk 3

Author : Oksana Kaidanovich-Beilin
ISBN : 9782889190478
Genre :
File Size : 76.95 MB
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The functions of the brain that allow us to think, feel, move, and perceive the world are the result of an exchange of information within a network composed of millions of specialized cells called neurons and glia. Neurons use neurotransmitters and other extracellular messengers to communicate with each other, and to constantly update and re-organize their network of connections in a process known as neural plasticity. In order to respond to these extracellular signals, neurons are equipped with specialized receptors that can recognize a single neurotransmitter a bit like a lock would recognize a key. They do this by activating or inhibiting a class of specialized signaling proteins and second messengers. Typically, signaling proteins are themselves organized in networks or pathways in which they activate or inhibit each other in order to integrate the mass of information received by a single cell and to regulate the biological functions of this cell. As we can see, rather than simply being a network of neurons, the brain can be seen as a sort of “Russian doll” in which each neuron is at the same time a part of networks with other neurons and the receptacle of many networks composed of signaling proteins. Two individual genes encode two paralogous signaling proteins: Glycogen Synthase Kinase -3 alpha and beta (GSK-3a, GSK-3b), named for its ability to phosphorylate a key metabolic enzyme of glycogen synthesis, glycogen synthase. This unique “glamour and gloom” protein kinase, has been intriguing many researches for over 30 years by its unusual features, still unknown mechanisms of its activation, its regulation by multiple “key” intracellular pathways, and its capacity to influence the functions of many substrates. Since GSK-3 was discovered, there has been significant progress in elucidating its regulatory roles in the neuron and the structure and functions of the brain. Lithium has been used as a gold standard in the treatment of bipolar disorder for 60 years; and “GSK-3’s renaissance” in psychiatry began with the discovery of GSK-3 as lithium's intracellular target. Since then, GSK3 has been implicated in the pathogenesis of mood disorders, schizophrenia, Alzheimer’s disease, ADHD, multiple sclerosis, Fragile X syndrome and Huntington disease. Connections to these and other diseases has led over the last 10 years to the generation of multiple types of GSK-3 inhibitors as promising therapeutic treatments for the aforementioned pathological conditions. During last couple years new genetic models have been generated, including conventional and conditional mouse models, allowing the discovery of new roles of GSK-3 in the mechanism of neurotransmitter action, neurodevelopment, learning and memory formation, GSK-3’s gene - effect on mouse behavior, and other functions. Thus, GSK-3 has been well-established as an intracellular second messenger for several neurotransmitter systems, and as an important therapeutic target of mood stabilizers, antipsychotics and psychomimetic drugs. The proposed Specific Topic for Frontiers in Neuroscience will be focused on the latest advances from leading laboratories in this area, subdivided into 5 topics: (1) GSK-3 history, mechanism of regulation, substrate specificity and comparison between the brain function of two GSK-3 genes through new animal models and cell biology approaches; (2) role of GSK-3 in neurodevelopment and neuronal structure; (3) involvement of GSK-3 in synaptic functions, learning and memory, and in serotonin and dopamine pathways; (4) role of GSK-3 in neuroinflammation, and application to the pathogenesis of multiple sclerosis, AD, schizophrenia, Fragile X, brain tumors, stroke and bipolar disorder; (5) development of GSK-3 inhibitors and their application in psychiatry, including special discussion about the mechanism of lithium action.

Viral Vectors For Treating Diseases Of The Nervous System

Author : David S. Latchman
ISBN : 0123668565
Genre : Medical
File Size : 53.24 MB
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Gene therapy offers considerable potential for the treatment of various incurable diseases of the nervous system. Viral Vectors for Treating Disease of the Nervous System describes a number of different viral vectors developed for achieving high efficiency gene delivery to the brain. Vectors described include those based on adenovirus, adeno-associated virus, Herpes Simplex Virus, lentivirus, and other retroviruses. It also discusses the potential application of such viruses in treating brain tumors, Parkinson's disease, and other diseases of the nervous system. Provides up-to-date account of gene therapy approaches for incurable neurological disorders Describes a range of gene delivery methods based on different viruses
Category: Medical

Novel Roles Of Non Coding Brain Rnas In Health And Disease

Author : Hermona Soreq
ISBN : 9782889193097
Genre :
File Size : 49.95 MB
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Non-coding RNAs (ncRNAs), and in particular microRNAs are rapidly becoming the focus of research interest in numerous basic and translational fields, including brain research; and their importance for many aspects in brain functioning merits special discussion. The wide-scope, multi-targeted and highly efficient manner of ncRNA regulatory activities draws attention to this topic by many, but the available research and analysis tools and experimental protocols are still at their infancy, and calls for special discussion given their importance for many aspects in brain functioning. This eBook is correspondingly focused on the search for, identification and exploration of those non-coding RNAs whose activities modulate the multi-leveled functions of the eukaryotic brain. The different articles strive to cover novel approaches for identifying and establishing ncRNA-target relationships, provide state of the art reports of the affected neurotransmission pathways, describe inherited and acquired changes in ncRNA functioning and cover the use of ncRNA mimics and blockade tools for interference with their functions in health and disease of the brain. Non-coding RNAs are here to stay, and this exciting eBook provides a glimpse into their impact on our brain’s functioning at the physiology, cell biology, behavior and immune levels.

Cell And Tissue Based Molecular Pathology E Book

Author : Raymond R. Tubbs
ISBN : 9781437719482
Genre : Medical
File Size : 34.1 MB
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This volume in the Foundations in Diagnostic Pathology Series packs today's most essential cell and tissue base molecular pathology into a compact, high-yield format! It focuses on the state of the art in practical validated molecular diagnostics as applied across the fields of surgical pathology and cytology. With an emphasis on current, clinically valid, and diagnostically important applications today and in the near future, you can be assured you’re getting the most up-to-date, authoritative coverage available. Its pragmatic, well-organized approach, nearly 250 full-color illustrations, and at-a-glance boxes and tables make the information you need easy to access. Practical and affordable, this resource is ideal for study and review as well as everyday clinical practice! Offers detailed discussions on today’s technologies to help you select the best test for case evaluation. Presents recognized molecular pathologists who convey the most current information, keeping you on the cusp of your field. Features nearly 250 full-color illustrations that present important pathologic features, enabling you to form a differential diagnosis and compare your findings with actual cases. Uses a consistent, user-friendly format, including at-a-glance boxes and tables for easy reference.
Category: Medical

Nervous System Diseases New Insights For The Healthcare Professional 2013 Edition

Author :
ISBN : 9781481667005
Genre : Medical
File Size : 54.74 MB
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Nervous System Diseases: New Insights for the Healthcare Professional: 2013 Edition is a ScholarlyEditions™ book that delivers timely, authoritative, and comprehensive information about Diagnosis and Screening. The editors have built Nervous System Diseases: New Insights for the Healthcare Professional: 2013 Edition on the vast information databases of ScholarlyNews.™ You can expect the information about Diagnosis and Screening in this book to be deeper than what you can access anywhere else, as well as consistently reliable, authoritative, informed, and relevant. The content of Nervous System Diseases: New Insights for the Healthcare Professional: 2013 Edition has been produced by the world’s leading scientists, engineers, analysts, research institutions, and companies. All of the content is from peer-reviewed sources, and all of it is written, assembled, and edited by the editors at ScholarlyEditions™ and available exclusively from us. You now have a source you can cite with authority, confidence, and credibility. More information is available at
Category: Medical

Current Veterinary Therapy E Book

Author : David E. Anderson
ISBN : 9781416069331
Genre : Medical
File Size : 79.25 MB
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Written by leading food animal researchers, practitioners, and educators, this comprehensive guide provides quick access to the latest medical and surgical interventions for cattle, sheep, and goats. The concise, quick-reference format and logical body systems organization make it ideal for use in both the clinical setting and the field. You’ll easily locate key information on preventing, treating, and managing disease in food animals, as well as expert insights on improving outcomes for individual animals and herd populations. Authoritative, cutting-edge coverage offers clinically relevant strategies for diagnosing and managing a wide range of diseases and disorders in food animals, with a focus on cattle, sheep, and goats. Logically organized content is easy-to-follow and provides a practical approach to determining appropriate medical and surgical interventions. Concise, easy-to-read format helps you find essential information quickly and easily. Expert editors, consultants, and writers ensure the accuracy, relevance, and timeliness of each topic to keep you on the cutting edge of food animal therapy. New editors and a new team of section editors bring a fresh perspective and authoritative guidance on caring for food animals. Completely revised and updated content includes new sections on topics such as: Genital surgery Pharmacology and therapeutics Restraint, anesthesia, and pain management Cow-calf/small ruminant production medicine Feedlot production medicine Coverage of hot topics in the field includes biosecurity in feedlots, therapy in organic livestock medicine, and ethical responsibilities in selecting drugs for use in food animals. Expanded treatment options incorporate surgical interventions where appropriate, including laparoscopic procedures.
Category: Medical

Medical Record

Author : George Frederick Shrady
ISBN : CORNELL:31924056973302
Genre : Medicine
File Size : 37.65 MB
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Category: Medicine

Human Genetics And Genomics

Author : Bruce R. Korf
ISBN : 9781118537664
Genre : Medical
File Size : 71.28 MB
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This fourth edition of the best-selling textbook, Human Genetics and Genomics, clearly explains the key principles needed by medical and health sciences students, from the basis of molecular genetics, to clinical applications used in the treatment of both rare and common conditions. A newly expanded Part 1, Basic Principles of Human Genetics, focuses on introducing the reader to key concepts such as Mendelian principles, DNA replication and gene expression. Part 2, Genetics and Genomics in Medical Practice, uses case scenarios to help you engage with current genetic practice. Now featuring full-color diagrams, Human Genetics and Genomics has been rigorously updated to reflect today’s genetics teaching, and includes updated discussion of genetic risk assessment, “single gene” disorders and therapeutics. Key learning features include: Clinical snapshots to help relate science to practice ‘Hot topics’ boxes that focus on the latest developments in testing, assessment and treatment ‘Ethical issues’ boxes to prompt further thought and discussion on the implications of genetic developments ‘Sources of information’ boxes to assist with the practicalities of clinical research and information provision Self-assessment review questions in each chapter Accompanied by the Wiley E-Text digital edition (included in the price of the book), Human Genetics and Genomics is also fully supported by a suite of online resources at, including: Factsheets on 100 genetic disorders, ideal for study and exam preparation Interactive Multiple Choice Questions (MCQs) with feedback on all answers Links to online resources for further study Figures from the book available as PowerPoint slides, ideal for teaching purposes The perfect companion to the genetics component of both problem-based learning and integrated medical courses, Human Genetics and Genomics presents the ideal balance between the bio-molecular basis of genetics and clinical cases, and provides an invaluable overview for anyone wishing to engage with this fast-moving discipline.
Category: Medical