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LIBRERIA STUDIUM
Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease, Volume 1
7th Edition
Rosenberg, Pascual
Editore
Elsevier
Anno
2024
Pagine
1006
ISBN
9780443190414
175,00 €
DA SCONTARE
| Edited by Roger N. Rosenberg, Abe (Brunky), Morris and William Zale Distinguished Chair in Neurology, Professor of Neurology and Neurotherapeutics, Founding Director, Alzheimer’s Disease Center Head, Section on Memory and Behavioral Neurology, University of Texas Southwestern Medical Center, Dallas, Texas, USA; Juan M. Pascual, Dept Neurology and Neurotherapeutics, Physiology and Pediatrics and McDermott Ctr for Human Growth and Dev/Ctr for Human Genetics, Univ of Texas Southwestern Medical Ctr, Dallas, TX, USA |
| Description:
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. |
| Features: |
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| Table Of Contents: | ||
| 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. What genes can and cannot do 5. Genotype-phenotype considerations in neurogenetic disease 6. Immunogenetics of neurological disease 7. Pharmacogenomic approaches to the treatment of sporadic alzheimer's disease 8. Application of mouse genetics to human disease: Generation and analysis of mouse models 9. DNA sequencing and other methods of exonic and genomic analyses 10. Association, cause and causal association. Revision 2: Playing the changes. 11. Adeno-associated virus-mediated gene therapy in central nervous system genetic disorders 12. Genomics of human neurological disorders 13. CRISPR/Cas9-based genetic engineering for translational research in neurological disorders 14. Neural cells derived from pluripotent stem cells and directly induced from somatic cells 15. Neuroimaging in dementia 16. Neuroethics 17. Genetic counseling 18. Antisense oligonucleotide drugs for neurological and neuromuscular diseases 19. Autophagy and neurological disorders 20. The aging brain SECTION II. NEUROLOGIC DISEASES 21. Cerebral malformations 22. Global developmental delay and intellectual disability 23. Aging and dementia in down syndrome 24. An overview of rett syndrome 25. Fragile X clinical features and neurobiology 26. Neurological evaluation and management of autism spectrum disorder 27. Angelman syndrome 28. The prion diseases 29. Leptin-related disorders of the nervous system 30. Genetics of autonomic disorders SECTION III. NEUROMETABOLIC DISORDERS Mitochondrial Disorders 31. The mitochondrial genome 32. Mitochondrial disorders due to mutations in the mitochondrial genome 33. Mitochondrial disorders due to mutations in the nuclear genome 34. Pyruvate dehydrogenase, pyruvate carboxylase, krebs cycle and mitochondrial transport disorders Lysosomal Disorders 35. Gaucher disease – neuronopathic forms 36. The Niemann-Pick diseases 37. GM2-gangliosidoses 38. Metachromatic leukodystrophy and multiple sulfatase deficiency 39. Krabbe disease: Globoid cell leukodystrophy 40. Leukodystrophies--an overview 41. The mucopolysaccharidoses 42. The mucolipidoses 43. Disorders of glycoprotein degradation: a-mannosidosis, ß-mannosidosis, fucosidosis, sialidosis, and aspartylglycosaminuria 44. GM1 gangliosidosis, Morquio Disease, galactosialidosis and sialidosis 45. Acid ceramidase deficiency: Farber lipogranulomatosis, spinal muscular atrophy associated with progressive myoclonic epilepsy and peripheral osteolysis 46. Wolman disease 47. Lysosomal membrane disorders: lysosome-associated membrane protein-2 deficiency (Danon disease) 48. Fabry disease: a-galactosidase A deficiency 49. Schindler disease: deficient a -N-acetylgalactosaminidase activity SECTION IV: METABOLIC DISORDERS 50. Organic acid disorders 51. Glycogen and polyglucosan storage diseases 52. Disorders of galactose metabolism 53. Inborn Errors of Amino Acid Metabolism 54. Urea cycle disorders 55. Glucose transporter type I deficiency and other glucose flux disorders 56. Maple syrup urine disease: biochemical, clinical and therapeutic considerations 57. Congenital disorders of N-linked glycosylation 58. Disorders of glutathione metabolism 59. Canavan disease 60. Neurotransmitter disorders 61. Peroxisomal disorders 62. Purines and pyrimidines 63. The acute porphyrias |
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