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Neurogenetics /

In this book, the authors use their extensive experience in the field of neurogenetics to provide readers with a practical approach for dealing with these conditions. The 31 chapters of this book cover a broad range of neurogenetic disorders, highlighting key issues with regards to the clinical asse...

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Detalles Bibliográficos
Clasificación:Libro Electrónico
Otros Autores: Kumar, Kishore R.
Formato: Electrónico eBook
Idioma:Inglés
Publicado: Oxford : Oxford University Press, ©2015.
Colección:What do I do now?
Temas:
Acceso en línea:Texto completo

MARC

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245 0 0 |a Neurogenetics /  |c Kishor R. Kumar [and others]. 
260 |a Oxford :  |b Oxford University Press,  |c ©2015. 
300 |a 1 online resource. 
336 |a text  |b txt  |2 rdacontent 
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490 1 |a What do I do now? 
504 |a Includes bibliographical references. 
505 8 |a Machine generated contents note: 1. Early-onset dystonia -- 2. DYT5 dystonia (dopa-responsive dystonia) -- 3. Myoclonus dystonia -- 4. Paroxysmal dyskinesia -- 5. Huntington disease -- 6. Dominant Parkinson disease -- 7. Recessive Parkinson disease -- 8. Gaucher disease and Parkinson disease -- 9. Spinocerebellar ataxia type 2 -- 10. Spinocerebellar ataxia type 17 -- 11. Sialidosis -- 12. Freidreich ataxia -- 13. MELAS syndrome -- 14. MERRF -- 15. POLG-related mitochondrial disease -- 16. MNGIE syndrome -- 17. Leber hereditary optic neuropathy -- 18. Charcot-Marie-Tooth disease type -- 19. Hereditary neuropathy with liability to pressure palsy -- 20. Neurofibromatosis type 12 -- 21. The myotonic dystrophies -- 22. The dystrophinopathies -- 23. Fascioscapulohumeral dystrophy -- 24. Inclusion body myopathy with Paget disease of bone and frontotemporal dementia -- 25. Hereditary spastic paraplegia -- 26. Inherited prion diseases -- 27. Frontotemporal dementia-amyotrophic lateral sclerosis syndrome -- 28. Neurodegeneration with brain iron accumulation : other issues that may arise in patients with neurogenetic conditions -- 29. Coincidental occurrence of two monogenic disorders / Christine Klein -- 30. Direct-to-consumer genetic testing / Christine Klein -- 31. Incidental findings in genetic testing / Christine Klein. 
520 |a In this book, the authors use their extensive experience in the field of neurogenetics to provide readers with a practical approach for dealing with these conditions. The 31 chapters of this book cover a broad range of neurogenetic disorders, highlighting key issues with regards to the clinical assessment, diagnosis and management"--Provided by publisher. 
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650 0 |a Neurogenetics. 
650 0 |a Genetic screening. 
650 1 2 |a Nervous System Diseases  |x genetics 
650 2 2 |a Genetic Testing 
650 6 |a Système nerveux  |x Maladies  |x Aspect génétique. 
650 6 |a Neurogénétique. 
650 6 |a Dépistage génétique. 
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650 7 |a Nervous system  |x Diseases  |x Genetic aspects.  |2 fast  |0 (OCoLC)fst01036107 
650 7 |a Neurogenetics.  |2 fast  |0 (OCoLC)fst01036353 
700 1 |a Kumar, Kishore R. 
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