Back to School Savings: Save up to 30% on print books and eBooks. No promo code needed.
Back to School Savings: Save up to 30%
Neurogenetics for the Practitioner
1st Edition - January 1, 2024
Editor: Gregory M. Pastores
Paperback ISBN:9780323994170
9 7 8 - 0 - 3 2 3 - 9 9 4 1 7 - 0
Neurogenetics for the Practitioner provides clinicians with a navigation tool to help diagnose and treat patients with neurological disorders using neurogenetics. Sections… Read more
Purchase Options
Save 50% on book bundles
Immediately download your ebook while waiting for your print delivery. No promo code is needed.
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.
Reviews genetic testing for diagnostic confirmation, including carrier testing and prenatal diagnosis
Explores various therapeutic strategies based on genetic interventions
Discusses when a neurologic problem may have an underlying genetic cause
Neurologist, Geneticist, Internists, Pediatricians, Nurses, Genetic Counselors, Genetic Lab personnel, Medical students
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
30. Therapeutic strategies based on genetic interventions
No. of pages: 350
Language: English
Published: January 1, 2024
Imprint: Academic Press
Paperback ISBN: 9780323994170
GP
Gregory M. Pastores
Clinical geneticist with expertise in inborn errors of metabolism, in particular Lysosomal storage disorder. Had directed a clinical and diagnostic/research laboratory in Neurogenetics for the Dept of Neurology at NYU, and for several years directed a course under the heading of the proposed book