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LEADER: 04828cam a22004214a 4500
001 2007020775
003 DLC
005 20100812154734.0
008 070517s2008 pauaf b 001 0 eng
010 $a 2007020775
016 7 $a101307392$2DNLM
020 $a9780781769563
020 $a0781769566
035 $a(OCoLC)ocn134990981
040 $aDNLM/DLC$cDLC$dNLM$dBAKER$dBTCTA$dYDXCP$dC#P$dVAM$dDEBBG$dDLC
042 $apcc
050 00 $aRC347$b.M59 2008
060 00 $a2008 B-090
060 10 $aWL 140$bM718 2008
082 00 $a616.8/0442$222
084 $aCX 3000$2rvk
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 Health/Lippincott Williams & Wilkins,$cc2008.
300 $axxi, 882 p., 8 p. of plates :$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.
650 0 $aNervous system$xDiseases$xMolecular aspects.
650 0 $aNervous system$xDiseases$xGenetic aspects.
650 0 $aMolecular neurobiology.
650 0 $aNeurogenetics.
650 12 $aNervous System Diseases$xgenetics.
650 22 $aGenetic Diseases, Inborn.
650 22 $aMental Disorders$xgenetics.
700 1 $aRosenberg, Roger N.
856 42 $3Publisher description$uhttp://www.loc.gov/catdir/enhancements/fy0738/2007020775-d.html
856 41 $3Table of contents only$uhttp://www.loc.gov/catdir/enhancements/fy0829/2007020775-t.html