MARC Record from harvard_bibliographic_metadata

LEADER: 05333pam a22003974a 4500
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005 20090417045607.0
008 080801s2008 paua b 001 0 eng
010 $a 2007020775
020 $a9780781769563
020 $a0781769566
035 0 $aocn134990981
040 $aDNLM$cDNLM
041 0 $aeng
042 $apcc
050 00 $aRC347$b.M59 2008
060 00 $a2008 B-090
060 10 $aWL 140$bM718 2008
245 04 $aThe molecular and genetic basis of neurologic and psychiatric disease /$ceditors, Roger N. Rosenberg ... [et al.].
250 $a4th ed.
260 $aPhiladelphia :$bWolters Kluwer/Lippincott Williams & Wilkins,$cc2008.
300 $axxi, 882 p. :$bill. (some col.) :$c29 cm.
504 $aIncludes bibliographical references and index.
505 0 $aRepeat 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]₂ 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, €-mannosidosis, and aspartylglycosaminuria -- €-galactosidase deficiency: G[m₁] 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 sclerosis --
505 0 $aPeripheral 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.
520 $aThis book is a comprehensive, current review of the molecular and genetic basis of neurologic and psychiatric diseases. More than 120 leading experts provide a fresh, new assessment of recent molecular, genetic, and genomic advances, offer new insights into disease pathogenesis, describe the newest available therapies, and explore promising areas of therapeutic development. This edition features an updated section on psychiatric disease and expanded, updated chapters on human genomics, gene therapy, and ethical issues. Six new chapters cover congenital myasthenic syndromes, hereditary spastic paraplegia, ion channel disorders, the phakomatoses, beta-galactosidase deficiency, and prion diseases. A Neurologic Gene Map describes the chromosome locus of all the genetic diseases and their gene product where known.
650 22 $aGenetic Diseases, Inborn.
650 22 $aMental Disorders$xgenetics.
650 12 $aNervous System Diseases$xgenetics.
650 0 $aNervous system$xDiseases$xMolecular aspects.
650 0 $aNervous system$xDiseases$xGenetic aspects.
650 0 $aMolecular neurobiology.
650 0 $aNeurogenetics.
700 1 $aRosenberg, Roger N.
988 $a20080801
906 $0OCLC