Practical Guide To Neurogenetics E Book
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| Author | : Thomas T. Warner |
| Publisher | : Elsevier Health Sciences |
| Total Pages | : 343 |
| Release | : 2008-11-04 |
| Genre | : Medical |
| ISBN | : 0702038458 |
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.
| Author | : Nicholas Wood |
| Publisher | : Cambridge University Press |
| Total Pages | : 251 |
| Release | : 2012-04-12 |
| Genre | : Medical |
| ISBN | : 052154372X |
A coherent, up-to-date overview of the rapidly advancing field of neurogenetics for neurologists of any level.
| Author | : Christine Klein MD |
| Publisher | : Oxford University Press |
| Total Pages | : 209 |
| Release | : 2014-09-01 |
| Genre | : Medical |
| ISBN | : 019938391X |
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.
| Author | : Roongroj Bhidayasiri |
| Publisher | : John Wiley & Sons |
| Total Pages | : 560 |
| Release | : 2008-04-15 |
| Genre | : Medical |
| ISBN | : 1405172843 |
Neurology is primarily characterized by a variety of diseases which seem very similar and are therefore difficult to distinguish between. Skill at differential diagnosis is therefore absolutely paramount. Neurological Differential Diagnosis is a streamlined handbook of prioritized differential diagnosis, to be used both in clinical practice and for exam review. By presenting differential diagnosis in order of frequency and importance, this book provides a practical handbook for clinicians in training, as well as a potential resource for quick board review. Whilst the book covers the most important syndromes and disease entities, readers are referred to other texts for more exhaustive differentials. By limiting differentials in this way - to the most likely and most serious diagnoses - the reader can more easily recall relevant disease processes when faced with a particular clinical situation, whether it be a patient in the emergency room or a difficult question on the board examination. The book specifically targets neurology residents and fellows, with overlap to neurosurgery and psychiatry. Internal medicine physicians with an interest in neurological problems and medical students looking for an edge in clinical neuroscience would also benefit from this text. The content is primarily mid-level material, in a pedagogic format. In order to organize the students' thought processes concise tables and line drawing templates are included. The book is organized into broad chapters by type of disorder and some overlap occurs between particular chapters.
| Author | : Roger N. Rosenberg |
| Publisher | : Elsevier |
| Total Pages | : 1465 |
| Release | : 2014-10-28 |
| Genre | : Science |
| ISBN | : 0124105491 |
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
| Author | : Roger N. Rosenberg |
| Publisher | : Academic Press |
| Total Pages | : 1013 |
| Release | : 2020-06-24 |
| Genre | : Medical |
| ISBN | : 0128139560 |
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
| Author | : Daniel Kondziella |
| Publisher | : Springer Science & Business Media |
| Total Pages | : 394 |
| Release | : 2013-08-15 |
| Genre | : Medical |
| ISBN | : 1447152514 |
This book teaches readers the clinical skills residents in neurology have to acquire in the course of their training, and approaches neurology like a doctor approaches a patient: first there is a chapter on how to perform an efficient neurological history according to neuroanatomical key features, then a chapter on the bedside examination, followed by chapters on differential diagnosis, diagnostic procedures and lastly, the treatment. Neurology at the Bedside aims to provide readers with a personal clinical mentor. It takes them by the hand and guides them through the whole patient encounter from the history to the treatment, at each step pointing out what is essential and what is not. Extensive differential diagnostic flow charts and detailed treatment suggestions make it a perfect coat pocket reference for the wards. In addition, more than 50 unique case histories cover the entire spectrum of the field. Neurology at the Bedside is written for neurologists in training: residents as well as senior house officers. Also medical students, general practitioners and others with an interest in neurology will find invaluable information here that is difficult to look up in traditional textbooks or online references.
| Author | : Kenneth F. Swaiman |
| Publisher | : Elsevier Health Sciences |
| Total Pages | : 2535 |
| Release | : 2006-01-01 |
| Genre | : Medical |
| ISBN | : 0323033652 |
This Gold Standard in clinical child neurology presents the entire specialty in the most comprehensive, authoritative, and clearly written fashion. Its clinical focus, along with relevant science, throughout is directed at both the experienced clinician and the physician in training. New editor, Dr. Ferriero brings expertise in neonatal neurology to the Fourth Edition. New chapters: Pathophysiology of Hypoxic Ischemic Encephalopathy, Congenital Disorders of Glycosylation, Pediatric Neurotransmitter Diseases, Neurophysiology of Epilepsy, Genetics of Epilepsy, Pediatric Neurorehabilitation Medicine, Neuropsychopharmacology, Pain and Palliative Care Management, Ethical Issues in Child Neurology
| Author | : Rob Forsyth |
| Publisher | : OUP Oxford |
| Total Pages | : 663 |
| Release | : 2012-07-26 |
| Genre | : Medical |
| ISBN | : 0191627119 |
Paediatric Neurology contains all the necessary guidance to investigate, diagnose and treat many of the common and rare neurological conditions in paediatrics. Each condition is covered by its own topic providing information on symptoms and signs, complications and emergency intervention. Other contents include: anatomical diagrams for quick and easy reference; expert guidance on drug usage in paediatric neurology; highlighted emergencies section; and, North American perspectives on management.
| Author | : Roger N. Rosenberg |
| Publisher | : Lippincott Williams & Wilkins |
| Total Pages | : 930 |
| Release | : 2008 |
| Genre | : Medical |
| ISBN | : 9780781769563 |
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. (www.rosenbergneuroandpsychdisease.com)
