Neurogenetics for the Practitioner

Name: Neurogenetics for the Practitioner
Author: Gregory M. Pastores

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Paperback, blz. | Engels

Elsevier Science | 2024

ISBN13: 9780323994170

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Elsevier Science e druk, 2024 9780323994170

€ 157,00

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Neurogenetics for the Practitioner provides clinicians with a navigation tool to help diagnose and treat patients with neurological disorders using neurogenetics. Sections introduce the reader to an overview of genetic principles, including practical applications in relation to diagnosis and current limitations. Additional chapters highlight how to workup patients presenting with certain features, including cerebral palsy/intellectual disability, congenital muscular dystrophy, cognitive decline/dementia, peripheral neuropathy, and paroxysmal disorder. The final section explores therapeutic strategies based on genetic interventions and genetic counselling options. This internationally contributed book will become the essential reference guide for neurologists.

Specificaties

ISBN13:9780323994170

Taal:Engels

Bindwijze:Paperback

Uitgever:Elsevier Science

Inhoudsopgave

Section I. General Considerations 1. Introduction 2. Molecular genetic mechanisms of neurodevelopmental and neurodegenerative disease 3. Techniques for genetic diagnosis: a practical guide 4. Genetic counseling and related issues 5. A Complimentary Approach: Metabolomics 6. Psychiatric disorders Section II. Early-onset Presentations 7. Infant with Hypotonia 8. Neurodevelopmental Disorders 9. Metabolomic decompensation in an infant or young child 10. Neurocutaneous defects Section III. Later-onset presentations 11. Metabolic decompensation in an adult 12. Stroke 13. Dementia and cognitive decline 14. Muscle weakness (Dystrophies) 15. Episodic flaccid muscle weakness (periodic paralysis) Section IV. Movement Disorders 16. Ataxia and Spasticity 17. Involuntary movements and postures (Dystonia) Section V. Neuropathy and Sensory Problems 18. Sensorimotor problem (peripheral neuropathy) 19. Visual loss 20. Hearing loss Section VI. Paroxysmal Disorders 21. Epilepsy 22. Migraine Section VII. Organelle Pathologies 23. Neuronopathic Lysosomal storage disorders 24. Mitochondrial disorders: Nuclear-encoded gene defects 25. Mitochondrial DNA-encoded defects Section VIII. Neuroimaging Findings as Clues 26. Brain malformations 27. Childhood-onset Leukodystrophy 28. Adult-onset Leukodystrophy Section IX. Therapeutic Considerations 29. Pharmacogenetics 30. Therapeutic strategies based on genetic interventions

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