Neurogenetics

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Practical Guide to Neurogenetics E-Book

Author : Thomas T. Warner,Simon R. Hammans
Publisher : Elsevier Health Sciences
Page : 343 pages
File Size : 42,6 Mb
Release : 2008-11-04
Category : Medical
ISBN : 9780702038457

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Practical Guide to Neurogenetics E-Book by Thomas T. Warner,Simon R. Hammans Pdf

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 : Anonim
Publisher : Elsevier
Page : 436 pages
File Size : 44,9 Mb
Release : 2018-01-08
Category : Medical
ISBN : 9780444632357

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Neurogenetics by Anonim Pdf

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

Author : Nicholas Wood
Publisher : Cambridge University Press
Page : 251 pages
File Size : 46,9 Mb
Release : 2012-04-12
Category : Medical
ISBN : 9780521543729

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Neurogenetics by Nicholas Wood Pdf

A coherent, up-to-date overview of the rapidly advancing field of neurogenetics for neurologists of any level.

Neurogenetics

Author : Christine Klein MD,Kishore R. Kumar MBBS, FRACP,Carolyn M. Sue MBBS, FRACP, PhD,Alexander M Prof Dr Med
Publisher : Oxford University Press
Page : 208 pages
File Size : 48,6 Mb
Release : 2014-09-01
Category : Medical
ISBN : 9780199383900

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Neurogenetics by Christine Klein MD,Kishore R. Kumar MBBS, FRACP,Carolyn M. Sue MBBS, FRACP, PhD,Alexander M Prof Dr Med Pdf

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.

Neurogenetics

Author : Stefan-M. Pulst
Publisher : Contemporary Neurology
Page : 496 pages
File Size : 40,5 Mb
Release : 2000
Category : Medical
ISBN : 019512975X

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Neurogenetics by Stefan-M. Pulst Pdf

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.

Neurogenetics

Author : Nicholas T. Potter
Publisher : Springer Science & Business Media
Page : 392 pages
File Size : 49,5 Mb
Release : 2008-02-02
Category : Medical
ISBN : 9781592593309

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Neurogenetics by Nicholas T. Potter Pdf

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,Juan M. Pascual
Publisher : Elsevier
Page : 1464 pages
File Size : 55,5 Mb
Release : 2014-10-28
Category : Medical
ISBN : 9780124105492

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Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease by Roger N. Rosenberg,Juan M. Pascual Pdf

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 : Anonim
Publisher : Elsevier
Page : 480 pages
File Size : 52,7 Mb
Release : 2018-01-09
Category : Medical
ISBN : 9780444640772

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Neurogenetics by Anonim Pdf

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 Neurogenetics, An Issue of Neurologic Clinics,

Author : Brent L. Fogel
Publisher : Elsevier Health Sciences
Page : 281 pages
File Size : 46,7 Mb
Release : 2013-11-06
Category : Medical
ISBN : 9780323261098

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Clinical Neurogenetics, An Issue of Neurologic Clinics, by Brent L. Fogel Pdf

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.

Neurogenetics

Author : Boris Egger
Publisher : Springer Nature
Page : 215 pages
File Size : 46,9 Mb
Release : 2022-12-08
Category : Medical
ISBN : 9783031077937

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Neurogenetics by Boris Egger Pdf

This textbook provides students with knowledge of neurogenetics, neurogenesis, neuronal specification and function, neuronal networks, learning and memory formation, brain evolution, and neurodegenerative diseases. Students are introduced to topics of classical developmental genetics as well as modern molecular and neurogenetic methods. Using a wealth of examples from current research, the textbook takes a strong applied approach. Using animal models such as Drosophila melanogaster and Caenorhabditis elegans as well as mammalian systems, the interrelationships between genes, neurons, nervous systems, and behaviour under normal and pathological conditions are illustrated. The textbook aims encourage students to address biological questions in neurogenetics and to think about the design of their own experiments. It targets primarily master and graduate students in neurobiology, but is also a valuable teaching tool for instructors in these fields.

Neurogenetics

Author : Kishore R. Kumar,Christine Klein,Carolyn M. Sue,Alexander M
Publisher : What Do I Do Now
Page : 209 pages
File Size : 44,7 Mb
Release : 2014-09-29
Category : Medical
ISBN : 9780199383894

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Neurogenetics by Kishore R. Kumar,Christine Klein,Carolyn M. Sue,Alexander M Pdf

In this book, the authors use their extensive experience in the field of neurogenetics to provide readers with a practical approach for dealing with these conditions. The 31 chapters of this book cover a broad range of neurogenetic disorders, highlighting key issues with regards to the clinical assessment, diagnosis and management"--Provided by publisher.

Behavioral Neurogenetics

Author : John F. Cryan,Andreas Reif
Publisher : Springer Science & Business Media
Page : 636 pages
File Size : 54,9 Mb
Release : 2012-05-04
Category : Medical
ISBN : 9783642278594

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Behavioral Neurogenetics by John F. Cryan,Andreas Reif Pdf

This book covers a wide array of topics relevant to behavioral genetics from both a preclinical and clinical standpoint. Indeed in juxtaposing both areas of research the reader will appreciate the true translational nature of the field. Topics covered range from technical advances in genetic analysis in humans and animals to specific descriptions of advances in schizophrenia, attention disorders, depression and anxiety disorders, autism, aggression, neurodegeneration and neurodevelopmental disorders. The importance of gene-environment interactions is emphasised and the role of neuroimaging in unravelling the functional consequences of genetic variability described. This volume will be valued by both the basic scientist and clinician alike who may use it as a detailed reference book. It will also be of use to the novice to the field, to whom it will serve as an in-depth introduction to this exciting area of research.

Precision Medicine for Investigators, Practitioners and Providers

Author : Joel Faintuch,Salomao Faintuch
Publisher : Academic Press
Page : 640 pages
File Size : 46,8 Mb
Release : 2019-11-16
Category : Science
ISBN : 9780128191798

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Precision Medicine for Investigators, Practitioners and Providers by Joel Faintuch,Salomao Faintuch Pdf

Precision Medicine for Investigators, Practitioners and Providers addresses the needs of investigators by covering the topic as an umbrella concept, from new drug trials to wearable diagnostic devices, and from pediatrics to psychiatry in a manner that is up-to-date and authoritative. Sections include broad coverage of concerning disease groups and ancillary information about techniques, resources and consequences. Moreover, each chapter follows a structured blueprint, so that multiple, essential items are not overlooked. Instead of simply concentrating on a limited number of extensive and pedantic coverages, scholarly diagrams are also included. Provides a three-pronged approach to precision medicine that is focused on investigators, practitioners and healthcare providers Covers disease groups and ancillary information about techniques, resources and consequences Follows a structured blueprint, ensuring essential chapters items are not overlooked