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...

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Detalles Bibliográficos
Clasificación:Libro Electrónico
Otros Autores: Kumar, Kishore R.
Formato: Electrónico eBook
Idioma:Inglés
Publicado: Oxford : Oxford University Press, ©2015.
Colección:What do I do now?
Temas:
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.
Acceso en línea:Texto completo
Tabla de Contenidos:
  • 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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