TY  - BOOK
AU  - Kumar,Kishore R.
TI  - Neurogenetics
T2  - What do I do now?
SN  - 9780199383900
AV  - RC346.4 
U1  - 616.8/0442 23
PY  - 2015///
CY  - Oxford
PB  - Oxford University Press
KW  - Nervous system
KW  - Diseases
KW  - Genetic aspects
KW  - Neurogenetics
KW  - Genetic screening
KW  - Nervous System Diseases
KW  - genetics
KW  - Genetic Testing
KW  - Système nerveux
KW  - Maladies
KW  - Aspect génétique
KW  - Neurogénétique
KW  - Dépistage génétique
KW  - HEALTH & FITNESS
KW  - General
KW  - bisacsh
KW  - MEDICAL
KW  - Clinical Medicine
KW  - Evidence-Based Medicine
KW  - Internal Medicine
KW  - fast
KW  - Electronic books
N1  - Includes bibliographical references; 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
N2  - 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
UR  - https://search.ebscohost.com/login.aspx?direct=true&scope=site&db=nlebk&AN=835599
ER  -