000			03194nam a22003378i 4500
001			CR9781139087711
003			UkCbUP
005			20200124160312.0
006			m|||||o||d||||||||
007			cr||||||||||||
008			110517s2012||||enk o ||1 0|eng|d
020			_a9781139087711 (ebook)
020			_z9780521543729 (paperback)
040			_aUkCbUP _beng _erda _cUkCbUP
050	0	0	_aRC346.4 _b.N482 2012
082	0	0	_a616.8/0442 _223
245	0	0	_aNeurogenetics : _ba guide for clinicians / _cedited by Nicholas W. Wood.
264		1	_aCambridge : _bCambridge University Press, _c2012.
300			_a1 online resource (vii, 241 pages) : _bdigital, PDF file(s).
336			_atext _btxt _2rdacontent
337			_acomputer _bc _2rdamedia
338			_aonline resource _bcr _2rdacarrier
500			_aTitle from publisher's bibliographic system (viewed on 05 Oct 2015).
505	8		_aMachine generated contents note: Preface; 1. The human genome project - what it really means and where next? / Sonia Gandhi and Nicholas Wood; 2. Genetic counselling 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 / Sarah J. Tabrizi and Edward J. Wild; 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 ... [et sl.]; 11. The muscular dystrophies / Kate Bushby and Una Sheerin; 12. Charcot-Marie-Tooth diseases / Odile Dubourg, Alexis Brice, and Eric LeGuern; 13. Mitochondrial disorders / Robert McFarland ... [et al.]; 14. The neurofibromatoses and related disorders / Rosalie E. Ferner; 15. The future of neurogenetics / Thomas D. Bird.
520			_aProgress 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.
650		0	_aNervous system _xDiseases _xGenetic aspects.
650		0	_aNeurogenetics.
700	1		_aWood, N. W. _q(Nicholas W.), _eeditor.
776	0	8	_iPrint version: _z9780521543729
856	4	0	_uhttps://doi.org/10.1017/CBO9781139087711
999			_c521148 _d521146