Neurogenetics for the Practitioner
Neurogenetics for the Practitioner
Pastores, Gregory M.
Elsevier Science & Technology
04/2024
510
Mole
Inglês
9780323994170
Pré-lançamento - envio 15 a 20 dias após a sua edição
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
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