Rosenberg’s Molecular and Genetic Basis of Neurological and Psychiatric Disease, Seventh Edition

Volume 1 Volume 1

Erstverkaufstag: 01.07.2024

258,65 €*

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ISBN-13:
9780443190414
Veröffentl:
2024
Erscheinungsdatum:
01.07.2024
Seiten:
1010
Autor:
Roger N Rosenberg
Sprache:
Englisch
Beschreibung:

Rosenberg's Molecular and Genetic Basis of Neurologic and Psychiatric Disease, Seventh Edition, provides a comprehensive introduction and reference to the foundations and key practical aspects relevant to neurologic and psychiatric disease. This volume has been thoroughly revised and includes newly commissioned chapters on ethics, genetic counselling and genet therapy for the central nervous system disorders. A favorite of over four generations of students, clinicians and scholars, this new edition retains and expands the informative, concise and critical tone of the previous edition. This is an essential reference for general medical practitioners, neurologists, psychiatrists, geneticists, and related professionals, and for the neuroscience and neurology research community at large.
SECTION I. GENERAL CONCEPTS AND TOOLS1. Mendelian, non-mendelian, multigenic inheritance and epigenetics2. Precision medicine in neurology3. Epigenomics of Neurological Disorders4. What Genes can and cannot do5. Genotype-Phenotype Considerations in Neurogenetic Disease7. Pharmacogenomic Approaches to the Treatment of Sporadic Alzheimer's Disease8. Application of Mouse Genetics to Human Disease: Generation and Analysis of Mouse Models9. DNA sequencing and other methods of exonic and genomic analyses10. Association, cause and causal association. Revision 2: Playing the changes.11. Adeno-associated virus-mediated gene therapy in central nervous system genetic disorders12. Genomics of Human Neurological Disorders13. CRISPR/Cas9-based Genetic Engineering for Translational Research in Neurological Disorders14. Neural cells derived from pluripotent stem cells and directly induced from somatic cells15. Neuroimaging in Dementias16. Ethics17. Genetic counseling18. Antisense oligonucleotide drugs for neurological and neuromuscular disease19. Autophagy and Neurological Disorders20. The Aging BrainSECTION II. NEUROLOGIC DISEASES21. Cerebral Malformations22. Global Developmental Delay and Intellectual Disability23. Aging and Dementia in Down Syndrome24. An Overview of Rett syndrome25. Fragile X Clinical Features and Neurobiology26. Neurological Evaluation and Management of Autism Spectrum Disorder27. Angelman syndrome28. Prion diseases29. Leptin Related Disorders of the Nervous System30. Genetics of Autonomic DisordersSECTION III. NEUROMETABOLIC DISORDERS Sub-Section: Mitochondrial Disorders31. The Mitochondrial Genome32. Mitochondrial Disorders Due to Mutations in the Mitochondrial Genome33. Mitochondrial Disorders Due to Mutations in the Nuclear Genome34. Pyruvate Dehydrogenase, Pyruvate Carboxylase, Krebs Cycle and Mitochondrial Transport DisordersSub-Section: Lysosomal Disorders35. Gaucher Disease - Neuronopathic Forms36. The Niemann-Pick Diseases37. The GM2-Gangliosidoses38. Metachromatic Leukodystrophy and Multiple Sulfatase Deficiency39. Krabbe Disease: Globoid Cell Leukodystrophy40. The Leukodystrophies: An Overview41. Mucopolysaccharidoses42. Mucolipidoses43. Disorders of glycoprotein degradation: a-mannosidosis, ß-mannosidosis, fucosidosis, sialidosis, and aspartylglycosaminuria44. GM1 Gangliosidosis, Morquio Disease, Galactosialidosis and Sialidosis45. Acid Ceramidase Deficiency: Farber Lipogranulomatosis, Spinal Muscular Atrophy Associated with Progressive Myoclonic Epilepsy and Peripheral Osteolysis46. Wolman Disease47. Lysosomal membrane disorders: lysosome-associated membrane protein-2 deficiency (Danon disease)48. Fabry Disease: a-Galactosidase A Deficiency49. Schindler Disease: Deficient-N-Acetylgalactosaminidase ActivitySECTION IV: METABOLIC DISORDERS50. Organic acid disorders51. Glycogen and Polyglucosan Storage Diseases52. Disorders of Galactose Metabolism53. Inborn Errors of Amino Acid Metabolism54. Urea Cycle Disorders55. Glucose transporter type I deficiency and other glucose flux disorders56. Maple syrup urine disease: biochemical, clinical and therapeutic considerations57. Congenital Disorders of N-linked Glycosylation58. Disorders of Glutathione Metabolism59. Canavan Disease60. Neurotransmitter disorders61. Peroxisomal disorders62. Purines and Pyrimidines63. The Acute Porphyrias

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