Practical guide to neurogenetics[ele...
Hammans, Simon R.

 

  • Practical guide to neurogenetics[electronic resource] /
  • 紀錄類型: 書目-語言資料,印刷品 : Monograph/item
    杜威分類號: 616.8/0442
    書名/作者: Practical guide to neurogenetics/ [edited by] Thomas T. Warner, Simon R. Hammans.
    其他作者: Warner, Thomas T.,
    出版者: Philadelphia : : Saunders/Elsevier,, c2009.
    面頁冊數: 1 online resource (xiii, 330 p.) : : ill.
    標題: Nervous system - Diseases
    標題: Neurogenetics.
    標題: Nervous System Diseases - genetics.
    標題: Genetics, Medical.
    ISBN: 9780702038457 (electronic bk.)
    ISBN: 0702038458 (electronic bk.)
    書目註: Includes bibliographical references and index.
    內容註: 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.
    摘要、提要註: 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.
    電子資源: An electronic book accessible through the World Wide Web; click for information
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