Neurogenetics For The Practitioner

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Neurogenetics for the Practitioner

Author : Gregory M. Pastores
Publisher : Elsevier
ISBN 13 : 0323958591
Total Pages : 512 pages
Book Rating : 4.3/5 (239 download)

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Book Synopsis Neurogenetics for the Practitioner by : Gregory M. Pastores

Download or read book Neurogenetics for the Practitioner written by Gregory M. Pastores and published by Elsevier. This book was released on 2024-04-24 with total page 512 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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

Author :
Publisher : Elsevier
ISBN 13 : 0444632352
Total Pages : 438 pages
Book Rating : 4.4/5 (446 download)

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Book Synopsis Neurogenetics, Part I by :

Download or read book Neurogenetics, Part I written by and published by Elsevier. This book was released on 2018-01-08 with total page 438 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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

Author :
Publisher : Elsevier
ISBN 13 : 0444640770
Total Pages : 480 pages
Book Rating : 4.4/5 (446 download)

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Book Synopsis Neurogenetics, Part II by :

Download or read book Neurogenetics, Part II written by and published by Elsevier. This book was released on 2018-01-29 with total page 480 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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

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.

Practical Guide to Neurogenetics E-Book

Author : Thomas T. Warner
Publisher : Elsevier Health Sciences
ISBN 13 : 0702038458
Total Pages : 343 pages
Book Rating : 4.7/5 (2 download)

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Book Synopsis Practical Guide to Neurogenetics E-Book by : Thomas T. Warner

Download or read book Practical Guide to Neurogenetics E-Book written by Thomas T. Warner and published by Elsevier Health Sciences. This book was released on 2008-11-04 with total page 343 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.

Neurogenetics

Author : Nicholas Wood
Publisher : Cambridge University Press
ISBN 13 : 052154372X
Total Pages : 251 pages
Book Rating : 4.5/5 (215 download)

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Book Synopsis Neurogenetics by : Nicholas Wood

Download or read book Neurogenetics written by Nicholas Wood and published by Cambridge University Press. This book was released on 2012-04-12 with total page 251 pages. Available in PDF, EPUB and Kindle. Book excerpt: A coherent, up-to-date overview of the rapidly advancing field of neurogenetics for neurologists of any level.

Neurogenetics

Author : Christine Klein MD
Publisher : Oxford University Press
ISBN 13 : 0199383901
Total Pages : 209 pages
Book Rating : 4.1/5 (993 download)

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Book Synopsis Neurogenetics by : Christine Klein MD

Download or read book Neurogenetics written by Christine Klein MD and published by Oxford University Press. This book was released on 2014-09-01 with total page 209 pages. Available in PDF, EPUB and Kindle. Book excerpt: Aims To some, the field of neurogenetics appears perplexing and indecipherable. In this volume, we will address this issue by providing clinicians with a framework for dealing with these disorders. This book is not intended to be an in-depth, comprehensive review of all neurogenetic conditions from 'A to Z'. Instead, we will provide a concise discussion using case studies to illustrate the most important and topical neurogenetic disorders. This case-based approach will make the book easy to reference, clinically relevant, approachable, and, we feel, more interesting. Scope The contribution of genetics to many neurological diseases is becoming increasingly apparent, and so it is imperative to stay up-to-date with these conditions. The 31 chapters in this volume cover a wide range of inherited conditions including forms of dystonia, Parkinson disease, spastic paraplegias, mitochondrial diseases, myopathies, neuropathies, and much more. Particular attention is paid to practical issues regarding how to make a genetic diagnosis and how to counsel the family. We will also address some contemporary issues in neurogenetics, such as the impact of direct-to-consumer genetic testing. General Approach In keeping with the WDIDN series, each chapter commences with a brief case study, which will be used as an example of an important condition in neurogenetics. The discussion will then be centered on the case, with a focus on crucial issues regarding the clinical assessment, investigations and management of these conditions. Key clinical points will be listed at the end of the chapter, along with a list of suggested further reading. All case studies in this book are based on real patients seen by the authors or their colleagues.

Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease

Author : Roger N. Rosenberg
Publisher : Elsevier
ISBN 13 : 0124105491
Total Pages : 1465 pages
Book Rating : 4.1/5 (241 download)

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Book Synopsis Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease by : Roger N. Rosenberg

Download or read book Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease written by Roger N. Rosenberg and published by Elsevier. This book was released on 2014-10-28 with total page 1465 pages. Available in PDF, EPUB and Kindle. Book excerpt: Rosenberg’s Molecular and Genetic Basis of Neurologic and Psychiatric Disease, Fifth Edition provides a comprehensive introduction and reference to the foundations and key practical aspects relevant to the majority of neurologic and psychiatric disease. A favorite of over three generations of students, clinicians and scholars, this new edition retains and expands the informative, concise and critical tone of the first edition. This is an essential reference for general medical practitioners, neurologists, psychiatrists, geneticists, and related professionals, and for the neuroscience and neurology research community. The content covers all aspects essential to the practice of neurogenetics to inform clinical diagnosis, treatment and genetic counseling. Every chapter has been thoroughly revised or newly commissioned to reflect the latest scientific and medical advances by an international team of leading scientists and clinicians. The contents have been expanded to include disorders for which a genetic basis has been recently identified, together with abundant original illustrations that convey and clarify the key points of the text in an attractive, didactic format. Previous editions have established this book as the leading tutorial reference on neurogenetics. Researchers will find great value in the coverage of genomics, animal models and diagnostic methods along with a better understanding of the clinical implications. Clinicians will rely on the coverage of the basic science of neurogenetics and the methods for evaluating patients with biochemical abnormalities or gene mutations, including links to genetic testing for specific diseases. Comprehensive coverage of the neurogenetic foundation of neurological and psychiatric disease Detailed introduction to both clinical and basic research implications of molecular and genetic understanding of the brain Detailed coverage of genomics, animal models and diagnostic methods with new coverage of evaluating patients with biochemical abnormalities or gene mutations

Neurogenetics

Author : David R. Lynch
Publisher : CRC Press
ISBN 13 : 9780824729424
Total Pages : 792 pages
Book Rating : 4.7/5 (294 download)

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Book Synopsis Neurogenetics by : David R. Lynch

Download or read book Neurogenetics written by David R. Lynch and published by CRC Press. This book was released on 2005-11-01 with total page 792 pages. Available in PDF, EPUB and Kindle. Book excerpt: Standing at the forefront of neurogenetic medicine, this reference supplies the tools and information required by clinicians to become familiar with modern neurogenetic approaches and apply the data gleaned from these technologies to the diagnosis and treatment of neurogenetic disorders, as well as traditionally non-genetic conditions such as Parkinson's and Alzheimer's disease.

Neurogenetics

Author : Nicholas T. Potter
Publisher : Springer Science & Business Media
ISBN 13 : 1592593305
Total Pages : 392 pages
Book Rating : 4.5/5 (925 download)

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Book Synopsis Neurogenetics by : Nicholas T. Potter

Download or read book Neurogenetics written by Nicholas T. Potter and published by Springer Science & Business Media. This book was released on 2008-02-02 with total page 392 pages. Available in PDF, EPUB and Kindle. Book excerpt: The rapid identification and characterization of genes of neurological relevance holds great potential for offering insight into the diagnosis, management, and und- standing of the pathophysiologic mechanisms of neurological diseases. This volume in the Methods in Molecular BiologyTM series was conceived to highlight many of the contemporary methodological approaches utilized for the characterization of neu- logically relevant gene mutations and their protein products. Although an emphasis has been placed upon descriptions of methodologies with a defined clinical utility, it is hoped that Neurogenetics: Methods and Protocols will appeal not only to clinical laboratory diagnosticians, but also to clinicians, and to biomedical researchers with an interest in advances in disease diagnosis and the functional consequences of neu- logically relevant gene mutations. To meet this challenge, more than 60 authors graciously accepted my invitation to contribute to the 32 chapters of this book. Through their collective commitment and diligence, what has emerged is a comprehensive and timely treatise that covers many methodological aspects of mutation detection and screening, including disc- sions on quantitative PCR, trinucleotide repeat detection, sequence-based mutation detection, molecular detection of imprinted genes, fluorescence in situ hybridization (FISH), in vitro protein expression systems, and studies of protein expression and function. I would like to take this opportunity to formally thank my colleagues for their effort and dedication to this work.

Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease

Author : Roger N. Rosenberg
Publisher : Academic Press
ISBN 13 : 012813867X
Total Pages : 830 pages
Book Rating : 4.1/5 (281 download)

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Book Synopsis Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease by : Roger N. Rosenberg

Download or read book Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease written by Roger N. Rosenberg and published by Academic Press. This book was released on 2020-06-24 with total page 830 pages. Available in PDF, EPUB and Kindle. Book excerpt: Rosenberg’s Molecular and Genetic Basis of Neurologic and Psychiatric Disease, Sixth Edition: Volume Two provides a comprehensive introduction and reference to the foundations and practical aspects relevant to the majority of neurologic and psychiatric disease. This updated volume focuses on degenerative disorders, movement disorders, neuro-oncology, neurocutaneous disorders, epilepsy, white matter diseases, neuropathies and neuronopathies, muscle and neuromuscular junction disorders, stroke, psychiatric disease, and a neurologic gene map. A favorite of over three generations of students, clinicians and scholars, this new edition retains and expands on the informative, concise and critical tone of the first edition. This is an essential reference for general medical practitioners, neurologists, psychiatrists, geneticists, related professionals, and for the neuroscience and neurology research community at large. The content covers all aspects essential to the practice of neurogenetics to inform clinical diagnosis, treatment and genetic counseling. Provides comprehensive coverage on the neurogenetic foundation of neurological and psychiatric disease Presents detailed coverage of genomics, animal models and diagnostic methods, with new coverage on evaluating patients with biochemical abnormalities or gene mutations Includes new chapters on the pharmacogenomics of epilepsy and the most recent updates in molecular genetics, focusing on neurodegenerative and psychiatric diseases

Neurogenetic Diagnoses

Author : Carole H. Browner
Publisher : Routledge
ISBN 13 : 1135179077
Total Pages : 317 pages
Book Rating : 4.1/5 (351 download)

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Book Synopsis Neurogenetic Diagnoses by : Carole H. Browner

Download or read book Neurogenetic Diagnoses written by Carole H. Browner and published by Routledge. This book was released on 2009-12-18 with total page 317 pages. Available in PDF, EPUB and Kindle. Book excerpt: As world populations continue to age, the incidence of very common, ultimately fatal neurodegenerative diseases (some of medicine’s most puzzling illnesses) will increase exponentially. Neurogenetic Diagnoses, the Power of Hope, and the Limits of Today’s Medicine explores the diverse impacts and intense meanings of genetic diagnoses for patients suffering from such diseases, and for their family caregivers and clinicians. Through richly-textured, often heart-wrenching longitudinal case studies, Neurogenetic Diagnoses... reveals how extremely difficult it can be for patients to obtain a definitive diagnosis for the cause of their symptoms, even with genetic testing; how, with or without definitive diagnoses, patients and family caregivers strive to come to terms with their situations; and how they are aided (or not) in these endeavors by their doctors. The analysis is framed by increasingly sharp social debate over the consequences of decoding the human genome -- and the impact of genetic technology on our lives.

Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease

Author : Roger N. Rosenberg
Publisher : Academic Press
ISBN 13 : 0128139560
Total Pages : 1013 pages
Book Rating : 4.1/5 (281 download)

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Book Synopsis Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease by : Roger N. Rosenberg

Download or read book Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease written by Roger N. Rosenberg and published by Academic Press. This book was released on 2020-06-24 with total page 1013 pages. Available in PDF, EPUB and Kindle. Book excerpt: Rosenberg’s Molecular and Genetic Basis of Neurologic and Psychiatric Disease, Sixth Edition: Volume One, provides a comprehensive introduction and reference to the foundations and key practical aspects relevant to neurologic and psychiatric disease. A favorite of over three generations of students, clinicians and scholars, this new edition retains and expands the informative, concise and critical tone of the first edition. This is an essential reference for general medical practitioners, neurologists, psychiatrists, geneticists, and related professionals, and for the neuroscience and neurology research community. The content covers all aspects essential to the practice of neurogenetics to inform clinical diagnosis, treatment and genetic counseling. Every chapter has been thoroughly revised or newly commissioned to reflect the latest scientific and medical advances by an international team of leading scientists and clinicians. The contents have been expanded to include disorders for which a genetic basis has been recently identified, together with abundant original illustrations that convey and clarify the key points of the text in an attractive, didactic format. Comprehensive coverage of the neurogenetic foundation of neurological and psychiatric disease Provides a detailed introduction on both the clinical and basic research implications of molecular and genetics surrounding the brain Includes new chapters on molecular genomics, CRISPR and the most recent updates in molecular genetics

Neurogenetics in Neurology: From Molecular Neuroscience to Precision Medicine

Author : Matthew James Farrer
Publisher : Frontiers Media SA
ISBN 13 : 2889662519
Total Pages : 106 pages
Book Rating : 4.8/5 (896 download)

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Book Synopsis Neurogenetics in Neurology: From Molecular Neuroscience to Precision Medicine by : Matthew James Farrer

Download or read book Neurogenetics in Neurology: From Molecular Neuroscience to Precision Medicine written by Matthew James Farrer and published by Frontiers Media SA. This book was released on 2020-12-22 with total page 106 pages. Available in PDF, EPUB and Kindle. Book excerpt: This eBook is a collection of articles from a Frontiers Research Topic. Frontiers Research Topics are very popular trademarks of the Frontiers Journals Series: they are collections of at least ten articles, all centered on a particular subject. With their unique mix of varied contributions from Original Research to Review Articles, Frontiers Research Topics unify the most influential researchers, the latest key findings and historical advances in a hot research area! Find out more on how to host your own Frontiers Research Topic or contribute to one as an author by contacting the Frontiers Editorial Office: frontiersin.org/about/contact.

Textbook of Neurogenetics

Author : Adriano Jiménez Escrig
Publisher :
ISBN 13 : 9788479787929
Total Pages : 316 pages
Book Rating : 4.7/5 (879 download)

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Book Synopsis Textbook of Neurogenetics by : Adriano Jiménez Escrig

Download or read book Textbook of Neurogenetics written by Adriano Jiménez Escrig and published by . This book was released on 2007-09 with total page 316 pages. Available in PDF, EPUB and Kindle. Book excerpt: This text constitutes a comprehensive sinopsis of our current knowledge of thegenetics on neurological diseases. The book presents the wiews from various disciplines who share a common interest on Neurogenetics. The first sever chapters review basic genetics, from historical aspectcs to molecular genetic tools, the internet resources, and the statistics and software used in research and clinical ground. The remaining fourteen chapters provide valuable information on causes, clinical aspects, genetic diagnosis, treatment strategies and management of the main hereditary neurological disorders. These chapters covers miscellaneous neurological diseases as well as those categorized into groups, review the genetics in each process and provide advice about the steps involved to enable the clinician to make clinical, genetic and differential diagnoses. Besides the practical nature of each chapter, the book aims help neurologists select the most appropriate test, and interpret the results within the context of the genetic evaluation of hereditary neurological disorders. CONTENTS: Principles of genetics. Molecular Biology Techniques in Investigation and Diagnosis. Transgenic animals in Neurology. Gene Therapy of Neurological Diseases. Overview of Computer Software for Genetics. Internet Genetic Resources. Primer of Statistical Genetics. Strategies for the Genetic Molecular Study of a Neurological Disease. Neurogenetics from a Clinical point of view. Hereditary Muscular Dystrophies. Genetics of Movement Disorders. Genetics of Dementia. Genetics of Cerebrovascular Diseases. Genetic Bases of Neurological Disorders. Etc.

Clinical Neurogenetics, An Issue of Neurologic Clinics

Author : Brent L. Fogel
Publisher : Elsevier Health Sciences
ISBN 13 : 0323261094
Total Pages : 281 pages
Book Rating : 4.3/5 (232 download)

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Book Synopsis Clinical Neurogenetics, An Issue of Neurologic Clinics by : Brent L. Fogel

Download or read book Clinical Neurogenetics, An Issue of Neurologic Clinics written by Brent L. Fogel and published by Elsevier Health Sciences. This book was released on 2013-12-28 with total page 281 pages. Available in PDF, EPUB and Kindle. Book excerpt: This issue of Neurologic Clinics features a review of clinical neurogenetics as it pertains to the following disorders: Huntington Disease; Autism/ASD;Fragile X Tremor Ataxia Syndrome (FXTAS); Lysosomal Storage Diseases; Psychiatric Disorders; Dominant Spinocerebellar Ataxias; Metabolic Disorders; Friedreich Ataxia; ALS; Dementia; Neuromuscular Disorders; Stroke; Epilepsy; and Dystonia.

Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease, Seventh Edition

Author : Roger N. Rosenberg
Publisher : Elsevier
ISBN 13 : 0443190429
Total Pages : 0 pages
Book Rating : 4.4/5 (431 download)

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Book Synopsis Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease, Seventh Edition by : Roger N. Rosenberg

Download or read book Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease, Seventh Edition written by Roger N. Rosenberg and published by Elsevier. This book was released on 2024-07-01 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: Rosenberg’s Molecular and Genetic Basis of Neurologic and Psychiatric Disease, Seventh Edition, provides a comprehensive introduction and reference to the foundations and key practical aspects relevant to neurologic and psychiatric disease. This volume has been thoroughly revised and includes newly commissioned chapters on ethics, genetic counselling and genet therapy for the central nervous system disorders. A favorite of over four generations of students, clinicians and scholars, this new edition retains and expands the informative, concise and critical tone of the previous edition. This is an essential reference for general medical practitioners, neurologists, psychiatrists, geneticists, and related professionals, and for the neuroscience and neurology research community at large. Both volumes combined provide a comprehensive coverage on the neurogenetic foundation of neurological and psychiatric disease This volume provides a detailed introduction on both the clinical and basic research implications of molecular and genetics surrounding the brain Includes new chapters on genomics of human neurological disorders, CRISPR and genome engineering