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...
Saved in:
| Other Authors: | |
|---|---|
| Format: | Electronic eBook |
| Language: | English |
| Published: |
Oxford :
Oxford University Press,
©2015.
|
| Series: | What do I do now?
|
| Subjects: | |
| Online Access: | DE-862 DE-863 |
| Summary: | 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. |
| Physical Description: | 1 online resource. |
| Bibliography: | Includes bibliographical references. |
| ISBN: | 9780199383900 0199383901 |
Staff View
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| 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. | ||
| 588 | 0 | |a Print version record. | |
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| 650 | 1 | 2 | |a Nervous System Diseases |x genetics |0 https://id.nlm.nih.gov/mesh/D009422Q000235 |
| 650 | 2 | 2 | |a Genetic Testing |0 https://id.nlm.nih.gov/mesh/D005820 |
| 650 | 6 | |a Système nerveux |x Maladies |x Aspect génétique. | |
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| 650 | 6 | |a Dépistage génétique. | |
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Record in the Search Index
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|---|---|
| _version_ | 1829095008510148608 |
| adam_text | |
| any_adam_object | |
| author2 | Kumar, Kishore R. |
| author2_role | |
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| author_GND | http://id.loc.gov/authorities/names/n2014184811 |
| author_facet | Kumar, Kishore R. |
| author_sort | Kumar, Kishore R. |
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| contents | 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. |
| ctrlnum | (OCoLC)889675195 |
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| dewey-ones | 616 - Diseases |
| dewey-raw | 616.8/0442 |
| dewey-search | 616.8/0442 |
| dewey-sort | 3616.8 3442 |
| dewey-tens | 610 - Medicine and health |
| discipline | Medizin |
| format | Electronic eBook |
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| id | ZDB-4-EBA-ocn889675195 |
| illustrated | Not Illustrated |
| indexdate | 2025-04-11T08:42:11Z |
| institution | BVB |
| isbn | 9780199383900 0199383901 |
| language | English |
| oclc_num | 889675195 |
| open_access_boolean | |
| owner | MAIN DE-862 DE-BY-FWS DE-863 DE-BY-FWS |
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| series | What do I do now? |
| series2 | What do I do now? |
| spelling | Neurogenetics / Kishor R. Kumar [and others]. Oxford : Oxford University Press, ©2015. 1 online resource. text txt rdacontent computer c rdamedia online resource cr rdacarrier 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. Print version record. Nervous system Diseases Genetic aspects. Neurogenetics. http://id.loc.gov/authorities/subjects/sh85091122 Genetic screening. http://id.loc.gov/authorities/subjects/sh99000370 Nervous System Diseases genetics https://id.nlm.nih.gov/mesh/D009422Q000235 Genetic Testing https://id.nlm.nih.gov/mesh/D005820 Système nerveux Maladies Aspect génétique. Neurogénétique. Dépistage génétique. HEALTH & FITNESS Diseases General. bisacsh MEDICAL Clinical Medicine. bisacsh MEDICAL Diseases. bisacsh MEDICAL Evidence-Based Medicine. bisacsh MEDICAL Internal Medicine. bisacsh Genetic screening fast Nervous system Diseases Genetic aspects fast Neurogenetics fast Kumar, Kishore R. http://id.loc.gov/authorities/names/n2014184811 Print version: Neurogenetics. Oxford : Oxford University Press, ©2015 9780199383894 What do I do now? http://id.loc.gov/authorities/names/n2008181413 |
| spellingShingle | Neurogenetics / What do I do now? 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. Nervous system Diseases Genetic aspects. Neurogenetics. http://id.loc.gov/authorities/subjects/sh85091122 Genetic screening. http://id.loc.gov/authorities/subjects/sh99000370 Nervous System Diseases genetics https://id.nlm.nih.gov/mesh/D009422Q000235 Genetic Testing https://id.nlm.nih.gov/mesh/D005820 Système nerveux Maladies Aspect génétique. Neurogénétique. Dépistage génétique. HEALTH & FITNESS Diseases General. bisacsh MEDICAL Clinical Medicine. bisacsh MEDICAL Diseases. bisacsh MEDICAL Evidence-Based Medicine. bisacsh MEDICAL Internal Medicine. bisacsh Genetic screening fast Nervous system Diseases Genetic aspects fast Neurogenetics fast |
| subject_GND | http://id.loc.gov/authorities/subjects/sh85091122 http://id.loc.gov/authorities/subjects/sh99000370 https://id.nlm.nih.gov/mesh/D009422Q000235 https://id.nlm.nih.gov/mesh/D005820 |
| title | Neurogenetics / |
| title_auth | Neurogenetics / |
| title_exact_search | Neurogenetics / |
| title_full | Neurogenetics / Kishor R. Kumar [and others]. |
| title_fullStr | Neurogenetics / Kishor R. Kumar [and others]. |
| title_full_unstemmed | Neurogenetics / Kishor R. Kumar [and others]. |
| title_short | Neurogenetics / |
| title_sort | neurogenetics |
| topic | Nervous system Diseases Genetic aspects. Neurogenetics. http://id.loc.gov/authorities/subjects/sh85091122 Genetic screening. http://id.loc.gov/authorities/subjects/sh99000370 Nervous System Diseases genetics https://id.nlm.nih.gov/mesh/D009422Q000235 Genetic Testing https://id.nlm.nih.gov/mesh/D005820 Système nerveux Maladies Aspect génétique. Neurogénétique. Dépistage génétique. HEALTH & FITNESS Diseases General. bisacsh MEDICAL Clinical Medicine. bisacsh MEDICAL Diseases. bisacsh MEDICAL Evidence-Based Medicine. bisacsh MEDICAL Internal Medicine. bisacsh Genetic screening fast Nervous system Diseases Genetic aspects fast Neurogenetics fast |
| topic_facet | 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. Genetic screening Nervous system Diseases Genetic aspects Neurogenetics |
| work_keys_str_mv | AT kumarkishorer neurogenetics |