The molecular and genetic basis of neurologic and psychiatric disease / editors Roger N. Rosenberg, ... [et al.]
Contributor(s): Rosenberg, Roger N
| Dimauro, Salvatore
| Paulson, Henry L
| Ptácek, Louis
| Nestler, Eric J
.
Philadelphia : Lippincott Williams & Wilkins, 2008 Edition: 4ª ed.Description: xxi, 882 p. : il. ; 28 x 21,5 cm.ISBN: 9780781769563 -- 978-0-7817-6956-3 -- 0-7817-6956-6.Subject(s): Enfermedades del sistema nervioso -- genética![](/opac-tmpl/bootstrap/images/filefind.png)
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Item type | Current location | Collection | Call number | Vol info | Copy number | Status | Notes | Date due | Barcode | Item holds |
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Biblioteca Ciencias de la Salud | FONDO BIBL | 616.8 / T374t (Browse shelf) | 8001 | 1 | Available | CO | 8300006007 |
General concepts and mechanisms of disease -- Repeat expansion disorders: general concepts and mechanisms of disease -- Mendelian, nonmendelian, and multigenic inheritance and complex traits -- Selectd genetically engineered models relevant to human neurodegenerative disease -- Gene mapping to gene targeting: application of mouse genetics to human disease -- Genomics and the human genome project -- Gene therapy for central nervous system disorders -- Emerging ethical issues in neurology, psychiatry, and the neurosciences -- Genotype-phenotype correlations -- Neurologic diseases -- Down syndrome -- Triplet repeats: genetics, clinical features, and pathogenesis -- Prion diseases -- Michochondrial disorders -- The mitochondrial genome -- Mitochondrial disorders due to mutations in the mitochondrial genome -- Mitochondrial disorders due to mutations in the nuclear genome -- Mitochondria in neurodegenerative disorders -- Peroxisomal disorders -- Lysosomal disorders -- Gaucher disease -- The niemann-Pick Diseases -- The gm2 gangliosidoses -- Metachromatic leukodystrophy and multiple sulfatase deficiency: sulfatide lipidosis -- The mucopolysaccharidoses and the mucolipidoses -- Disorders of glycoprotein degradation: sialidosis, fucosidosis, a-mannosidosis, b-mannosidosis, and aspartylglycosaminuria -- B.Galactosidase deficiency: Gm1 gangliosidosis, morquio B disease, and galactosialidosis -- Farber disease: acid ceramidase deficiendcy and faber lipogranulomatosis -- Wolman disease -- Lysosomal membrane disorders: LAMP-2 deficiency -- Fabry disease: a-galactosidase a deficency -- Schindler disease: deficiency -- Schindler disease: defcieint a-N-acetylgalactosaminidase activy -- Denegenerative Disorders -- Alzheimer disease -- frontotemporal dementias -- Genetics of movement Disorders -- The inherited ataxias -- Canavan disease -- The Hereditary Spastic Paraplegias -- neuro-Oncology -- The neurofibormatioses -- Epilepsy -- The genetics epilepsies -- Demyelinating disease -- Multiple slcerosis -- Neuropathies and neuronopathies -- Peripheral neuropathies -- The molecular and genetic basis of spinal muscular atrophies -- Congenital myasthenia -- Genetical myasthenic syndromes -- Myopathies -- Dystrophinopathies -- Limb-Girdle muscular dfystrophies -- The congenital myopathies -- The disatal myopathies -- Hereditary inclusion-Body Myopathies -- The myotonic Dystrophies -- Facioscapulohumeral Dystrophies -- Factoscapylohumeral dystrophy -- Ion Channel Disorders -- Dermatologic and brain disorders -- The phakomatoses -- Lipoprotein disorders -- Apolipoprotein E_ estructure and function in lipid metabolism and neurobiology -- Cerebrotendinous xantrhomatosis -- Metabolic disorders -- Disorders of lipid metabolism -- Glycogen storage diseases -- Disorders of galactose metabolism -- Inborn errors of amino acid metabolism -- Disorders of the urea cycle -- Disorders of glucose transport -- Maple Syrup urine disease: clinical and biochemical considerations -- Congenital disorders of N.linked glycosylation -- Disorders of glutathione metabolism -- Purines -- Disorders of purine metabolism -- The porphyrias -- Metal metabolism -- Friedrich ataxia -- Disorders of copper metabolism: Wilson disease an Menkes disease -- Vitamins -- Genetic and dietary influences on life span -- Vitamins: coabalamin and folate -- Disorders of biotin metabolism: treatable neurologic syndromes -- Psychiatric disease -- Psychiatric diseases: challenges in psychiatric genetics -- Depression -- Bipolar disorder -- Schizophrenia -- Obsessive-compulsive disorder and tourette syndrome -- Genetic bases of addictive behaviors -- Autism -- Neurologic gene map -- Index --
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