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Table of Contents:

Contributors
Foreword
Preface
Ch. 1 A New Mutational Basis for Disease
Ch. 2 Clinical and Diagnostic Aspects of Fragile X Syndrome
Ch. 3 FMR1 and Mutations in Fragile X Syndrome: Molecular Biology, Biochemistry, and Genetics
Ch. 4 Murine Model of Fragile X Syndrome
Ch. 5 FRAXE Mental Retardation and Other Folate-Sensitive Fragile Sites
Ch. 6 Common Fragile Sites
Ch. 7 Kennedy's Disease: Clinical Aspects
Ch. 8 Genetics and Molecular Biology of the Androgen Receptor CAG Repeat
Ch. 9 Myotonic Dystrophy as a Trinucleotide Repeat Disorder - A Clinical Perspective
Ch. 10 Genetic Studies of the Myotonic Dystrophy CTG Repeat
Ch. 11 Biochemical Studies of DM Protein Kinase (DMPK)
Ch. 12 Is Myotonic Dystrophy (DM) the Result of a Contiguous Gene Defect?
Ch. 13 Murine Models for Myotonic Dystrophy
Ch. 14 Clinical Aspects of DRPLA
Ch. 15 Molecular Genetics of Dentatorubral-Pallidoluysian Atrophy (DRPLA)
Ch. 16 The Allelic Variant: Haw River Syndrome
Ch. 17 Clinical Aspects of Spinocerebellar Ataxia 1
Ch. 18 Clues about the Pathogenesis of SCA1 from Biochemical and Molecular Studies of Ataxin-1
Ch. 19 Murine Model of SCA1: Repeat Instability and Neurobiology
Ch. 20 Spinocerebellar Ataxia Type 2
Ch. 21 Autosomal Dominant Cerebellar Ataxia with Macular Dystrophy (SCA7) Is Caused by a Highly Unstable CAG Repeat Expansion
Ch. 22 Genetic and Molecular Studies of Machado-Joseph Disease
Ch. 23 Huntington's Disease
Ch. 24 Molecular Pathogenesis of Huntington's Disease: Biochemical Studies of Huntingtin
Ch. 25 Murine Models of Huntington's Disease
Ch. 26 Friedreich's Ataxia
Ch. 27 Anticipation and Psychiatric Disorders
Ch. 28 Genetic Anticipation in Neurological and Other Disorders
Ch. 29 Detection of Unstable Trinucleotide Repeat Loci: Genome and cDNA Screening
Ch. 30 RED Technology
Ch. 31 Selective Recognition of Proteins with Pathological Polyglutamine Tracts by a Monoclonal Antibody
Ch. 32 DIRECT Technologies
Ch. 33 Systems for the Study of Genetic Instabilities: Escherichia coli
Ch. 34 Genetic Instabilities in Yeast
Ch. 35 Systems for the Study of Triplet Repeat Instability: Cultured Mammalian Cells
Ch. 36 Genetic Instability in Transgenic Mice Deficient in DNA Mismatch Repair
Ch. 37 Human Germline Mutation Analysis by Single Genome PCR: Application to Dynamic Mutations
Ch. 38 Biophysical and Structural Studies on Triplet Repeat Sequences: Duplex Triplet Repeat Structures
Ch. 39 Slipped Strand DNA, Dynamic Mutations, and Human Disease
Ch. 40 Structure and Dynamics of Single-Stranded Nucleic Acids Containing Trinucleotide Repeats
Ch. 41 Structural Studies on the Unstable Triplet Repeats
Ch. 42 Nucleosome Analyses and Disease of Chromatin Structure
Ch. 43 Studies of DNA Polymerases in Replication-Based Repeat Expansion
Ch. 44 DNA Replication Errors Involving Strand Misalignments
Ch. 45 In Vitro DNA Synthesis of Triplet Repeat Sequences
Appendix Replication Fork Progression through CTG - CAG Triplet Repeats in Vitro
Ch. 46 Amino Acid Repeats in Proteins and the Neurological Diseases Produced by Polyglutamine
Ch. 47 Pathogenesis of Polyglutamine Neurodegenerative Diseases: Toward a Unifying Mechanism
Ch. 48 Expansion of a 12-mer Repeat in Progressive Myoclonus Epilepsy
Ch. 49 Microsatellite Instability in Colon Cancers
Ch. 50 Concluding Remarks
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Index