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" Neurogenetics / "
Kishore R. Kumar, MBBS, FRACP, Department of Neurogenetics, Kolling Institute of Medical Research, The University of Sydney and the Royal North Shore Hospital, St. Leonards, Australia, Carolyn M. Sue, MBBS, FRACP, Department of Neurogenetics, Kolling Institute of Medical research, The University of Sydney and the Royal North Shore Hospital, St. Leonards, Australia, Alexander Münchau, Prof. Dr. Med., Department of Paediatric and Adult Movement Disorders and Neuropsychiatry, Institute of Neurogenetics, University of Lübeck, Lübeck, Germany, Christine Klein, MD, Institute of Neurogenetics, University of Lübeck, Lübeck, Germany
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BL
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| Record Number
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624274
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dltt
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| Main Entry
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Kumar, Kishore R.
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| Title & Author
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Neurogenetics /\ Kishore R. Kumar, MBBS, FRACP, Department of Neurogenetics, Kolling Institute of Medical Research, The University of Sydney and the Royal North Shore Hospital, St. Leonards, Australia, Carolyn M. Sue, MBBS, FRACP, Department of Neurogenetics, Kolling Institute of Medical research, The University of Sydney and the Royal North Shore Hospital, St. Leonards, Australia, Alexander Münchau, Prof. Dr. Med., Department of Paediatric and Adult Movement Disorders and Neuropsychiatry, Institute of Neurogenetics, University of Lübeck, Lübeck, Germany, Christine Klein, MD, Institute of Neurogenetics, University of Lübeck, Lübeck, Germany
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| Series Statement
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What do I do now?
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| Page. NO
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179 pages :: illustrations ;; 22 cm
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| ISBN
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9780199383894
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: 0199383898
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Includes bibliographical references
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| Contents
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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
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| Abstract
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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"--
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| Subject
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Nervous system-- Diseases-- Genetic aspects
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| Subject
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Neurogenetics
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| LC Classification
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RC346.4.K86 2015
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| Added Entry
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Sue, Carolyn M.
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Münchau, Alexander
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Klein, Christine,1969-
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