عنوان

Neurogenetics /

شابک

0199383898

شابک

9780199383894

شماره

dltt

عنوان اصلي

Neurogenetics /

نام عام مواد

[Book]

نام نخستين پديدآور

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

نام خاص و کميت اثر

179 pages :

ساير جزييات

illustrations ;

ابعاد

22 cm

عنوان فروست

What do I do now?

متن يادداشت

Includes bibliographical references

متن يادداشت

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

بدون عنوان

8

متن يادداشت

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"--

موضوع مستند نشده

Nervous system-- Diseases-- Genetic aspects

موضوع مستند نشده

Neurogenetics

شماره رده

نشانه اثر

مستند نام اشخاص تاييد نشده

Kumar, Kishore R.

مستند نام اشخاص تاييد نشده

Klein, Christine,1969-

مستند نام اشخاص تاييد نشده

Münchau, Alexander

مستند نام اشخاص تاييد نشده

Sue, Carolyn M.

تاريخ عمليات

20151002231852.0

قواعد فهرست نويسي ( بخش توصيفي )

rda

نام الکترونيکي

نوع ماده

[Book]

تكميل شده

Y