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- 2007020775 contributor B10773683.
- 2007020775 created "c2008.".
- 2007020775 date "2008".
- 2007020775 date "c2008.".
- 2007020775 dateCopyrighted "c2008.".
- 2007020775 description "Includes bibliographical references and index.".
- 2007020775 description "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.".
- 2007020775 description "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]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 --".
- 2007020775 extent "xxi, 882 p., 8 p. of plates :".
- 2007020775 identifier "0781769566".
- 2007020775 identifier "9780781769563".
- 2007020775 identifier 2007020775-d.html.
- 2007020775 identifier 2007020775-t.html.
- 2007020775 issued "2008".
- 2007020775 issued "c2008.".
- 2007020775 language "eng".
- 2007020775 publisher "Philadelphia : Wolters Kluwer Health/Lippincott Williams & Wilkins,".
- 2007020775 subject "2008 B-090".
- 2007020775 subject "616.8/0442 22".
- 2007020775 subject "Genetic Diseases, Inborn.".
- 2007020775 subject "Mental Disorders genetics.".
- 2007020775 subject "Molecular neurobiology.".
- 2007020775 subject "Nervous System Diseases genetics.".
- 2007020775 subject "Nervous system Diseases Genetic aspects.".
- 2007020775 subject "Nervous system Diseases Molecular aspects.".
- 2007020775 subject "Neurogenetics.".
- 2007020775 subject "RC347 .M59 2008".
- 2007020775 subject "WL 140 M718 2008".
- 2007020775 tableOfContents "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.".
- 2007020775 tableOfContents "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]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 --".
- 2007020775 title "The molecular and genetic basis of neurologic and psychiatric disease / editors, Roger N. Rosenberg ... [et al.].".
- 2007020775 type "text".