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Neurogenetics : a guide for clinicians [E-Book]

Contributor(s): Series: Cambridge medicine (Series)Publication details: Cambridge, UK ; New York : Cambridge University Press, 2012.Description: 1 online resource (vii, 241 pages) : illustrationsContent type:
  • text
Media type:
  • computer
Carrier type:
  • online resource
ISBN:
  • 9781139379366
  • 1139379364
  • 9781139087711
  • 1139087711
Subject(s): NLM classification:
  • WL 140
Online resources:
Contents:
1. The human genome project : what it really means and where next / Sonia Gandhi and Nicholas W. Wood -- 2. Genetic counseling and genetic testing for neurogenetic disorders / David Craufurd and Peter S. Harper -- 3. Alzheimer's disease and related dementias / John Hardy -- 4. The epilepsies / Mark Gardiner -- 5. The ataxias / S.H. Subramony -- 6. Huntington's disease / Edward J. Wild and Sarah J. Tabrizi -- 7. Parkinsonism / Vincenzo Bonifati -- 8. Prion diseases / Simon Mead and John Collinge -- 9. Channelopathies / Michael G. Hanna and Dimitri M. Kullmann -- 10. Amyotrophic lateral sclerosis and other disorders of the lower motor neuron / Christopher E. Shaw, Jemeen Sreedharan, Caroline A. Vance, and Ammar Al-Chalabi -- 11. The muscular dystrophles / Kate Bushby and Una-Marie Sheerin -- 12. Charcot-Marie-Tooth diseases / Odile Dubourg, Alexis Brice, and Eric LeGuern -- 13. Mitochondrial disorders / Robert McFarland, Robert Taylor, Andrew Schaefer, and Doug Turnbull -- 14. The neurofibromatoses and related disorders / Rosalie E. Ferner -- 15. The future of neurogenetics / Thomas D. Bird.
Summary: "Progress in genetic knowledge is profoundly affecting medical practice, and no clinical specialty has more diseases associated with genetic mutations than neurology. As a more complete picture of the genes which give rise to neurological disease is obtained, trainee and practising neurologists need a guide to basic principles and the more important clinical entities with a genetic component. It is against this background that Neurogenetics: A Guide for Clinicians has been written. The book opens with coverage of genetic testing and counselling. Subsequent chapters discuss genetic factors for all the major neurological diseases, including epilepsy, Alzheimer's disease, Parkinsonism and muscular dystrophies. No book in this field can hope to be fully up to date with the latest research; rather this work provides a framework on which to add new genetic discoveries. Neurogenetics: A Guide for Clinicians provides a synoptic overview for neurologists, medical geneticists and scientists working in the field"--Provided by publisher
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Includes bibliographical references and index.

"Progress in genetic knowledge is profoundly affecting medical practice, and no clinical specialty has more diseases associated with genetic mutations than neurology. As a more complete picture of the genes which give rise to neurological disease is obtained, trainee and practising neurologists need a guide to basic principles and the more important clinical entities with a genetic component. It is against this background that Neurogenetics: A Guide for Clinicians has been written. The book opens with coverage of genetic testing and counselling. Subsequent chapters discuss genetic factors for all the major neurological diseases, including epilepsy, Alzheimer's disease, Parkinsonism and muscular dystrophies. No book in this field can hope to be fully up to date with the latest research; rather this work provides a framework on which to add new genetic discoveries. Neurogenetics: A Guide for Clinicians provides a synoptic overview for neurologists, medical geneticists and scientists working in the field"--Provided by publisher

Print version record.

1. The human genome project : what it really means and where next / Sonia Gandhi and Nicholas W. Wood -- 2. Genetic counseling and genetic testing for neurogenetic disorders / David Craufurd and Peter S. Harper -- 3. Alzheimer's disease and related dementias / John Hardy -- 4. The epilepsies / Mark Gardiner -- 5. The ataxias / S.H. Subramony -- 6. Huntington's disease / Edward J. Wild and Sarah J. Tabrizi -- 7. Parkinsonism / Vincenzo Bonifati -- 8. Prion diseases / Simon Mead and John Collinge -- 9. Channelopathies / Michael G. Hanna and Dimitri M. Kullmann -- 10. Amyotrophic lateral sclerosis and other disorders of the lower motor neuron / Christopher E. Shaw, Jemeen Sreedharan, Caroline A. Vance, and Ammar Al-Chalabi -- 11. The muscular dystrophles / Kate Bushby and Una-Marie Sheerin -- 12. Charcot-Marie-Tooth diseases / Odile Dubourg, Alexis Brice, and Eric LeGuern -- 13. Mitochondrial disorders / Robert McFarland, Robert Taylor, Andrew Schaefer, and Doug Turnbull -- 14. The neurofibromatoses and related disorders / Rosalie E. Ferner -- 15. The future of neurogenetics / Thomas D. Bird.

WorldCat record variable field(s) change: 650

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