Neurogenetics for the Practitioner
Neurogenetics for the Practitioner

Author: Gregory M. Pastores

Publisher: Elsevier

Published: 2024-04-24

Total Pages: 512

ISBN-13: 0323958591

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Neurogenetics is a growing field, providing a clear link between clinical characteristics of phenotypes and exact molecular tests to reach a specific diagnosis. Neurogenetics for the Practitioner provides clinicians with a navigation tool to help diagnose and treat patients with neurological disorders using neurogenetics. The first section introduces the reader to an overview of genetic principles, including practical applications in relation to diagnosis and current limitations. Additional chapters highlight how to workup patients presenting with certain features including cerebral palsy/intellectual disability, congenital muscular dystrophy, cognitive decline/dementia, peripheral neuropathy, and paroxysmal disorder. The final section explores therapeutic strategies based on genetic interventions and genetic counselling options. Internationally contributed, this book will become the essential reference guide for neurologist. - Reviews genetic testing for diagnostic confirmation, including carrier testing and prenatal diagnosis - Explores various therapeutic strategies based on genetic interventions - Discusses when a neurologic problem may have an underlying genetic cause

Neurogenetics, Part I
Neurogenetics, Part I

Author:

Publisher: Elsevier

Published: 2018-01-08

Total Pages: 438

ISBN-13: 0444632352

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Genetic methodologies are having a significant impact on the study of neurological and psychiatric disorders. Using genetic science, researchers have identified over 200 genes that cause or contribute to neurological disorders. Still an evolving field of study, defining the relationship between genes and neurological and psychiatric disorders is evolving rapidly and expected to grow in scope as more disorders are linked to specific genetic markers. Part I covers basic genetic concepts and recurring biological themes, and begins the discussion of movement disorders and neurodevelopmental disorders, leading the way for Part II to cover a combination of neurological, neuromuscular, cerebrovascular, and psychiatric disorders. This volume in the Handbook of Clinical Neurology will provide a comprehensive introduction and reference on neurogenetics for the clinical practitioner and the research neurologist. - Presents a comprehensive coverage of neurogenetics - Details the latest science and impact on our understanding of neurological psychiatric disorders - Provides a focused reference for clinical practitioners and the neuroscience/neurogenetics research community

Neurogenetics, Part II
Neurogenetics, Part II

Author:

Publisher: Elsevier

Published: 2018-01-29

Total Pages: 480

ISBN-13: 0444640770

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Neurogenetics, Part II, Volume 148, the latest release in the Handbook of Clinical Neurology, provides the latest information on the genetic methodologies that are having a significant impact on the study of neurological and psychiatric disorders. Using genetic science, researchers have identified over 200 genes that cause or contribute to neurological disorders. Still an evolving field of study, defining the relationship between genes and neurological and psychiatric disorders is expected to dramatically grow in scope. Part II builds on the foundation of Part I, expanding the coverage to dementias, paroxysmal disorders, neuromuscular disorders, white matter and demyelination diseases, cerebrovascular diseases, adult psychiatric disorders and cancer and phacomatoses. - Contains comprehensive coverage of neurogenetics - Details the latest science and its impact on our understanding of neurological, psychiatric disorders - Presents a focused reference for clinical practitioners and the neuroscience/neurogenetics research community

Clinical Neurology
Clinical Neurology

Author: Graeme Hankey

Publisher: CRC Press

Published: 2008-02-01

Total Pages: 697

ISBN-13: 1840765186

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Neurology is an exciting and evolving clinical science. The fact that many previously untreatable diseases are now known to be not only treatable, but preventable, has raised new optimism for the probability that treatments will emerge for other currently incurable neurologic disorders. This book is written and illustrated for students of clinical

Routledge Handbook of Sport and Exercise Systems Genetics
Routledge Handbook of Sport and Exercise Systems Genetics

Author: J. Timothy Lightfoot

Publisher: Routledge

Published: 2019-03-14

Total Pages: 514

ISBN-13: 1351380168

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Technological advances over the last two decades have placed genetic research at the forefront of sport and exercise science. It provides potential answers to some of contemporary sport and exercise’s defining issues and throws up some of the area’s most challenging ethical questions, but to date, it has rested on a fragmented and disparate literature base. The Routledge Handbook of Sport and Exercise Systems Genetics constitutes the most authoritative and comprehensive reference in this critical area of study, consolidating knowledge and providing a framework for interpreting future research findings. Taking an approach which covers single gene variations, through genomics, epigenetics, and proteomics, to environmental and dietary influences on genetic mechanisms, the book is divided into seven sections. It examines state-of-the-art genetic methods, applies its approach to physical activity, exercise endurance, muscle strength, and sports performance, and discusses the ethical considerations associated with genetic research in sport and exercise. Made up of contributions from some of the world’s leading sport and exercise scientists and including chapters on important topical issues such as gene doping, gender testing, predicting sport performance and injury risk, and using genetic information to inform physical activity and health debates, the handbook is a vital addition to the sport and exercise literature. It is an important reference for any upper-level student, researcher, or practitioner working in the genetics of sport and exercise or exercise physiology, and crucial reading for any social scientist interested in the ethics of sport.

Neurogenetic Diagnoses, the Power of Hope, and the Limits of Today’s Medicine
Neurogenetic Diagnoses, the Power of Hope, and the Limits of Today’s Medicine

Author: Carole H. Browner

Publisher: Routledge

Published: 2009-12-18

Total Pages: 152

ISBN-13: 1135179085

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Amid intense debate over the consequences of decoding the human genome and the impact of such technology on our lives, these lucid, richly-textured, jargon-free case studies explore the diverse meanings and impacts of genetic diagnoses for patients enduring currently incurable, ultimately fatal neurodegenerative diseases -- and for their family caregivers and clinicians.

Brenner's Encyclopedia of Genetics
Brenner's Encyclopedia of Genetics

Author: Stanley Maloy

Publisher: Academic Press

Published: 2013-03-03

Total Pages: 4360

ISBN-13: 0080961568

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The explosion of the field of genetics over the last decade, with the new technologies that have stimulated research, suggests that a new sort of reference work is needed to keep pace with such a fast-moving and interdisciplinary field. Brenner's Encyclopedia of Genetics, Second Edition, Seven Volume Set, builds on the foundation of the first edition by addressing many of the key subfields of genetics that were just in their infancy when the first edition was published. The currency and accessibility of this foundational content will be unrivalled, making this work useful for scientists and non-scientists alike. Featuring relatively short entries on genetics topics written by experts in that topic, Brenner's Encyclopedia of Genetics, Second Edition, Seven Volume Set provides an effective way to quickly learn about any aspect of genetics, from Abortive Transduction to Zygotes. Adding to its utility, the work provides short entries that briefly define key terms, and a guide to additional reading and relevant websites for further study. Many of the entries include figures to explain difficult concepts. Key terms in related areas such as biochemistry, cell, and molecular biology are also included, and there are entries that describe historical figures in genetics, providing insights into their careers and discoveries. This 7-volume set represents a 25% expansion from the first edition, with over 1600 articles encompassing this burgeoning field Thoroughly up-to-date, with many new topics and subfields covered that were in their infancy or not inexistence at the time of the first edition. Timely coverage of emergent areas such as epigenetics, personalized genomic medicine, pharmacogenetics, and genetic enhancement technologies Interdisciplinary and global in its outlook, as befits the field of genetics Brief articles, written by experts in the field, which not only discuss, define, and explain key elements of the field, but also provide definition of key terms, suggestions for further reading, and biographical sketches of the key people in the history of genetics

Neurogenetics
Neurogenetics

Author: Nicholas Wood

Publisher: Cambridge University Press

Published: 2012-04-12

Total Pages: 251

ISBN-13: 1107376203

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Progress in genetic knowledge is profoundly affecting medical practice, and no clinical specialty has more diseases associated with genetic mutations than neurology. As a more complete picture of the genes which give rise to neurological disease is obtained, trainee and practising neurologists need a guide to basic principles and the more important clinical entities with a genetic component. It is against this background that Neurogenetics: A Guide for Clinicians has been written. The book opens with coverage of genetic testing and counselling. Subsequent chapters discuss genetic factors for all the major neurological diseases, including epilepsy, Alzheimer's disease, Parkinsonism and muscular dystrophies. No book in this field can hope to be fully up to date with the latest research; rather this work provides a framework on which to add new genetic discoveries. Neurogenetics: A Guide for Clinicians provides a synoptic overview for neurologists, medical geneticists and scientists working in the field.

Practical Guide to Neurogenetics E-Book
Practical Guide to Neurogenetics E-Book

Author: Thomas T. Warner

Publisher: Elsevier Health Sciences

Published: 2008-11-04

Total Pages: 343

ISBN-13: 0702038458

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This simple guide to neurogenetics demystifies the overwhelming amount of information on the subject so you can identify key clinical features and understand your management options. Reach relevant differential diagnoses and provide appropriate counseling to your patients using the symptom-based approach. By integrating genetic and neurological approaches to diagnoses, this book ensures that the neurological consequences of a genetic diagnosis and the genetic consequences of a neurological diagnosis are clear and explicit. Concise and portable, this book is ideal for easy reference in clinical use. Details the underlying basic science and clinical features of genetic disorders by taking a symptom-based approach to provide you with a comprehensive understanding of the field. Focuses on the clinical application of neurogenetics to be of practical use to you in the clinic. Clarifies the neurological consequences of a genetic diagnosis and the genetic consequences of a neurological diagnosis by integrating genetic and neurological approaches to diagnoses. Discusses and evaluates necessary investigations so you know when to use them and when to refer. Highlights diagnostic and therapeutic tips so you can learn new concepts or refine your skills in practice. Refers to online sources, such as Online Mendelian Inheritance in Man (OMIM) and others, to help you supplement your knowledge.

Assessing Genetic Risks
Assessing Genetic Risks

Author: Institute of Medicine

Publisher: National Academies Press

Published: 1994-01-01

Total Pages: 353

ISBN-13: 0309047986

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Raising hopes for disease treatment and prevention, but also the specter of discrimination and "designer genes," genetic testing is potentially one of the most socially explosive developments of our time. This book presents a current assessment of this rapidly evolving field, offering principles for actions and research and recommendations on key issues in genetic testing and screening. Advantages of early genetic knowledge are balanced with issues associated with such knowledge: availability of treatment, privacy and discrimination, personal decision-making, public health objectives, cost, and more. Among the important issues covered: Quality control in genetic testing. Appropriate roles for public agencies, private health practitioners, and laboratories. Value-neutral education and counseling for persons considering testing. Use of test results in insurance, employment, and other settings.