Neurogenetics /
Neurogenetics /
Kishor R. Kumar [and others].
- Oxford : Oxford University Press, ©2015.
- 1 online resource.
- What do I do now? .
- What do I do now? .
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.
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.
9780199383900 (electronic bk.) 0199383901 (electronic bk.)
Nervous system--Diseases--Genetic aspects.
Neurogenetics.
Genetic screening.
Nervous System Diseases--genetics
Genetic Testing
Système nerveux--Maladies--Aspect génétique.
Neurogénétique.
Dépistage génétique.
HEALTH & FITNESS--Diseases--General.
MEDICAL--Clinical Medicine.
MEDICAL--Diseases.
MEDICAL--Evidence-Based Medicine.
MEDICAL--Internal Medicine.
Nervous system--Diseases--Genetic aspects.
Neurogenetics.
Electronic books.
RC346.4
616.8/0442
WL 140
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.
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.
9780199383900 (electronic bk.) 0199383901 (electronic bk.)
Nervous system--Diseases--Genetic aspects.
Neurogenetics.
Genetic screening.
Nervous System Diseases--genetics
Genetic Testing
Système nerveux--Maladies--Aspect génétique.
Neurogénétique.
Dépistage génétique.
HEALTH & FITNESS--Diseases--General.
MEDICAL--Clinical Medicine.
MEDICAL--Diseases.
MEDICAL--Evidence-Based Medicine.
MEDICAL--Internal Medicine.
Nervous system--Diseases--Genetic aspects.
Neurogenetics.
Electronic books.
RC346.4
616.8/0442
WL 140