Catalogue


Practical guide to neurogenetics /
[edited by] Thomas T. Warner, Simon R. Hammans.
imprint
Philadelphia : Saunders/Elsevier, c2009.
description
xiii, 330 p. : ill. ; 26 cm.
ISBN
0750654104, 9780750654104
format(s)
Book
Holdings
More Details
imprint
Philadelphia : Saunders/Elsevier, c2009.
isbn
0750654104
9780750654104
contents note
DNA, genes, and mutations / Thomas T. Warner -- Genetic advice and testing : basics of inheritance, counseling, and rationale for testing / Diana M. Eccles -- Dementia / Thomas T. Warner -- Epilepsy / Simon R. Hammans -- Disorders of vision / Andrea H. Nemeth and Susan M. Downes -- Cerebellar and spinocerebellar disorders / Simon R. Hammans -- Disorders of myelin : multiple sclerosis and leukodystrophies / Simon R. Hammans -- Movement disorders / Thomas T. Warner -- Cerebrovascular disease / Thomas T. Warner -- Motor neuron diseases / Thomas T. Warner -- Neuropathies / Simon R. Hammans -- Muscle disease / Simon R. Hammans -- Muscle channelopathies and metabolic myopathies / Simon R. Hammans -- Mitochondrial disease / Simon R. Hammans -- Tumor predisposition syndromes : VHL, NF1 and NF2, tuberous sclerosis, and malignant CNS tumors / Diana M. Eccles -- Metabolic and degenerative disorders of childhood / Lucinda Carr -- Neurological aspects of chromosomal disorders / Andrea H. Nemeth.
catalogue key
6782463
 
Includes bibliographical references and index.
A Look Inside
About the Author
Author Affiliation
Thomas T. Warner, BA, BM, BCh, PhD, FRCP, Reader in Clinical Neurosciences, Department of Clinical Neurosciences, UCL Institute of Neurology, Consultant Neurologist, Department of Neurology, Royal Free Hospital, Honorary Consultant Neurologist, National Hospital for Neurology and Neurosurgery, London, United Kingdom Simon R. Hammans, MA, MD, FRCP, Consultant Neurologist, Wessex Neurological Centre, Southampton General Hospital, Southampton, Consultant Neurologist, St. Richard's Hospital, Chichester, Honorary Senior Lecturer, University of Southampton, United Kingdom
Summaries
Bowker Data Service Summary
This practical guide demystifies the field and allows the general neurologist and geneticist to adopt an informed and pragmatic approach to neurogenetic cases. Taking a symptom-based approach it details the underlying basic science and clinical features of genetic disorders.
Main Description
This guide to neurogenetics demystifies the overwhelming amount of information on the subject. It uses a symptom-based approach so you can identify key clinical features and relevant investigations to reach the correct differential diagnoses. The book guides you to appropriate counseling and genetic testing for your patients. 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 presentation of neurogenetic disorders for everyday use in clinical practice. Integrates genetic and neurological approaches to diagnoses for optimum value for both neurologists and clinical geneticists. Discusses and evaluates appropriate 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 Mendelian Inheritance in Man (OMIM) and others, to help you supplement your knowledge. Book jacket.
Main Description
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.
Table of Contents
Contributorsp. ix
Prefacep. xi
Acknowledgmentsp. xiii
DNA, Genes, and Mutationsp. 1
Genetic Advice and Testing: Basics of Inheritance, Counseling, and Rationale for Testingp. 11
Dementiap. 24
Epilepsyp. 38
Disorders of Visionp. 49
Cerebellar and Spinocerebellar Disordersp. 75
Disorders of Myelin: Multiple Sclerosis and Leukodystrophiesp. 92
Movement Disordersp. 102
Cerebrovascular Diseasep. 137
Motor Neuron Diseasesp. 150
Neuropathiesp. 175
Muscle Diseasep. 197
Muscle Channelopathies and Metabolic Myopathiesp. 229
Mitochondrial Diseasep. 245
Tumor Predisposition Syndromes: VHL, NF1 and NF2, Tuberous Sclerosis, and Malignant CNS Tumorsp. 260
Metabolic and Degenerative Disorders of Childhoodp. 276
Neurological Aspects of Chromosomal Disordersp. 310
Indexp. 321
Table of Contents provided by Ingram. All Rights Reserved.

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