Bibframe Work

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

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.