Rosenbergs Molecular and Genetic Basis of Neurological and Psychiatric Disease: Volume 1

Rosenberg's Molecular and Genetic Basis of Neurologic and Psychiatric Disease, Sixth Edition: Volume One provides a comprehensive introduction and reference to the foundations and key practical aspects relevant to neurologic and psychiatric disease. A favorite of over three generations of students, clinicians and scholars, this new edition retains and expands the informative, concise and critical tone of the first edition. This is an essential reference for general medical practitioners, neurologists, psychiatrists, geneticists, and related professionals, and for the neuroscience and neurology research community. The content covers all aspects essential to the practice of neurogenetics to inform clinical diagnosis, treatment and genetic counseling. Every chapter has been thoroughly revised or newly commissioned to reflect the latest scientific and medical advances by an international team of leading scientists and clinicians. The contents have been expanded to include disorders for which a genetic basis has been recently identified, together with abundant original illustrations that convey and clarify the key points of the text in an attractive, didactic format. Comprehensive coverage of the neurogenetic foundation of neurological and psychiatric diseaseProvides a detailed introduction on both the clinical and basic research implications of molecular and genetics surrounding the brainIncludes new chapters on molecular genomics, CRISPR and the most recent updates in molecular genetics INDICE: SECTION I. GENERAL CONCEPTS AND TOOLS 1. Mendelian, Non-Mendelian, Multigenic Inheritance, and Epigenetics 2. Precision medicine in neurology 3. Epigenomics of neurological disorders 4. Genotype-Phenotype Considerations in Neurogenetic Disease 5. Immunogenetics of neurological disease 6. Pharmacogenomic Approaches to the Treatment of Sporadic Alzheimer's Disease 7. Application of Mouse Genetics to Human Disease: Generation and Analysis of Mouse Models 8. DNA sequencing and other methods of exonic and genomic analysis 9. Association, cause and causal association, revised: reasoning and methods 10. AAV-Mediated Gene Therapy in CNS Genetic Disorders 11. Genomics of Human Neurological Disorders 12. The ongoing exploration and exploitation of CRISPR-Cas immune systems for genome engineering 13. Direct induction of neural cells from somatic cells 14. Neuroimaging in Dementias 15. Cognitive Enhancers and Mental Impairment:  Emerging Ethical Issues 16. Genetic Counseling 17. Antisense oligonucleotide drugs for neurological and neuromuscular disease SECTION II. NEUROLOGIC DISEASES 18. Cerebral Malformations 19. Global Developmental Delay and Intellectual Disability 20. Alzheimer's Disease and Down Syndrome 21. An Overview of Rett syndrome 22. Fragile X Clinical Features and Neurobiology 23. Neurological Evaluation and Management of Autism Spectrum Disorder 24. Angelman syndrome 25. Prion diseases SECTION III. NEUROMETABOLIC DISORDERS MITOCHONDRIAL DISORDERS 26. The Mitochondrial Genome 27. Mitochondrial Disorders Due to Mutations in the Mitochondrial Genome 28. Mitochondrial Disorders Due to Mutations in the Nuclear Genome 29. Pyruvate Dehydrogenase, Pyruvate Carboxylase, Krebs Cycle and Mitochondrial  Transport Disorders LYSOSOMAL DISORDERS 30. Gaucher Disease - Neuronopathic Forms 31. The Niemann-Pick Diseases 32. GM2-Gangliosidoses 33. Metachromatic Leukodystrophy and Multiple Sulfatase Deficiency 34. Krabbe Disease: Globoid Cell Leukodystrophy 35. Mucopolysaccharidoses 36. Mucolipidoses 37. Disorders of Glycoprotein Degradation: Sialidosis, Fucosidosis, ?-Mannosidosis, ?-Mannosidosis, and Aspartylglycosaminuria 38. ?-Galactosidase Deficiency: GM1 Gangliosidosis, Morquio B Disease, and Galactosialidosis 39. Acid Ceramidase Deficiency: Farber Lipogranulomatosis, Spinal Muscular Atrophy Associated with Progressive Myoclonic Epilepsy and Peripheral Osteolysis 40. Wolman Disease 41. Lysosomal Membrane Disorders: LAMP-2 Deficiency 42. Fabry Disease: ?-Galactosidase A Deficiency 43. Schindler Disease: Deficient-N-Acetylgalactosaminidase Activity METAL METABOLISM DISORDERS 44. Wilson Disease 45. Menkes disease and other ATP7A disorders 46. Neurodegeneration with Brain Iron Accumulation 47. Pantothenate-kinase associated neurodegeneration 48. Disorders of manganese transport 49. Aceruloplasminemia VITAMIN DISORDERS 50. Genetic and Dietary Influences on Life Span 51. Vitamins: Cobalamin and Folate 52. Inherited Biotin-Responsive Disorders 53. Disorders of Pyridoxine Metabolism LIPID METABOLISM DISORDERS 54. Disorders of Lipid Metabolism 55. Lipoprotein Disorders 56. Cerebrotendinous xanthomatosis OTHER METABOLIC DISORDERS 57. Organic acid disorders 58. Glycogen and Polyglucosan Storage  Diseases 59. Disorders of Galactose Metabolism 60. Inborn Errors of Amino Acid Metabolism 61. Urea Cycle Disorders 62. Glucose transporter type I deficiency  and other glucose flux disorders 63. Maple Syrup Urine Disease: Biochemical, Clinical and Therapeutic Considerations 64. Congenital Disorders of N-linked Glycosylation 65. Disorders of Glutathione Metabolism 66. Canavan Disease 67. Neurotransmitter disorders 68. Peroxisomal disorder 69. Purines and Pyrimidines 70. The Acute Porphyrias

• ISBN: 978-0-12-813955-4
• Editorial: Academic Press
• Encuadernacion: Cartoné
• Páginas: 750
• Fecha Publicación: 01/06/2020
• Nº Volúmenes: 1
• Idioma: Inglés