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The molecular and genetic basis of neurologic and psychiatric disease

Roger N Rosenberg; Salvatore Dimauro; Henry L Paulson; Louis Ptácek; Eric J Nestler

Philadelphia Wolters Kluwer Health/Lippincott Williams & Wilkins c2008

Localização: FM - Fac. Medicina    (WL140 M729 4.ed. 2008 ex.1 )(Acessar)

  • Título:
    The molecular and genetic basis of neurologic and psychiatric disease
  • Autor: Roger N Rosenberg; Salvatore Dimauro; Henry L Paulson; Louis Ptácek; Eric J Nestler
  • Assuntos: Nervous system -- Diseases -- Molecular aspects; MANIFESTAÇÕES NEUROLÓGICAS; DOENÇAS DO SISTEMA NERVOSO (GENÉTICA); Nervous system -- Diseases -- Genetic aspects; Molecular neurobiology; Neurogenetics; Nervous System Diseases -- genetics; Genetic Diseases, Inborn; Mental Disorders -- genetics; BIOLOGIA MOLECULAR; DOENÇAS GENÉTICAS; TRANSTORNOS MENTAIS (GENÉTICA)
  • Notas: Includes bibliographical references and index
  • Descrição: Repeat expansion disorders: general concepts and mechanisms of disease -- Mendelian, nonmendelian, and multigenic inheritance and complex traits -- Selected 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 -- Down syndrome -- Triplet repeats: genetics, clinical features, and pathogenesis -- Prion diseases -- The mitochondrial genome -- The mitochondrial disorders due to mutations in the mitochondrial genome -- Mitochondrial disorders due to mutations in the nuclear genome -- Mitochondria in neurodegenerative disorders -- Peroxisomal disorders -- Gaucher disease -- The niemann-pick diseases -- The G[m]b2s gangliosidoses -- Metachromatic leukodystrophy and multiple sulfatase deficiency: sulfatide lipidosis -- Krabble disease: globoid cell leukodystrophy -- The mucopolysaccharidoses and the mucolipidoses -- Disorders of glycoprotein degradation: sialidosis, fucosidosis, [a]-mannosidosis, È-mannosidosis, and aspartylglycosaminuria -- È-galactosidase deficiency: G[mb1s] gangliosidosis, morquio B disease and galactosialidosis -- Farber disease: acid ceramidase deficiency and farber lipogranulomatosis -- Wolman disease -- Lysosomal membrane disorders: LAMP-2 deficiency -- Fabry disease: [a]-galactosdase a deficiency -- Schindler disease: deficient [a]-N-acetylgalactosaminidase activity -- Alzheimer disease -- Frontotemporal dementias -- Genetics of movement disorders -- The inherited ataxias -- Canavan disease -- The hereditary spastic paraplegias -- Neuro-oncology: the neurofibromatoses -- The genetic epilepsies -- Multiple scle
    Peripheral neuropathies -- The molecular and genetic basis of spinal muscular atrophies -- Congenital myasthenic syndromes -- Dystrophinopathies -- Limb-girdle muscular dystrophies -- The congenital myopathies -- The distal myopathies -- Hereditary inclusion-body myopathies -- The myotonic dystrophies -- Facioscapulohumeral dystrophy -- Ion channel disorders -- The phakomatoses -- Lipoprotein disorders -- Apolipoprotein E: structure and function in lipid metabolism and neurobiology -- Cerebrotendinous xanthomatosis -- 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 biochemical considerations -- Congenital disorders of N-linked glycosylation -- Disorders of glutathione metabolism -- Disorders of purine metabolism -- The porphyrias -- Friedreich ataxia -- Disorders of copper metabolism: Wilson disease and Menkes disease -- Genetic and dietary influences on life span -- Vitamins: cobalamin and folate -- Disorders of biotin metabolism: treatable neurologic syndromes -- Psychiatric diseases: challenges in psychiatric genetics -- Depression -- Bipolar disorder -- Schizophrenia -- Obessive-compulsive disorder and tourette syndrome -- Genetic bases of addictive behaviors -- Autism -- A neurologic gene map
  • Editor: Philadelphia Wolters Kluwer Health/Lippincott Williams & Wilkins
  • Data de criação/publicação: c2008
  • Formato: xxi, 882 p., 8 p. of plates ill. (some col.) 29 cm.
  • Idioma: Inglês
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  • Realização: ABCD-USP USP   Logos de Redes Sociais: Freepik

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