Human nucleotide expansion disorders

Author(s)

Bibliographic Information

Human nucleotide expansion disorders

Michael Fry, Karen Usdin (eds.)

(Nucleic acids and molecular biology / edited by Fritz Eckstein, David M.J. Lilley, 19)

Springer, c2006

Available at  / 11 libraries

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Note

Includes bibliographical references and index

Description and Table of Contents

Description

Human neurological and neuromuscular disorders caused by nucleotide expansion are the focus of growing interest of practicing physicians and of interested biomedical researchers. This volume represents a comprehensive and up-to-date description of many of the better-studied disorders. The authors discuss molecular, clinical and pathological aspects of the diseases as well as our current understanding of their underlying mechanisms.

Table of Contents

Molecular Bases of Nucleotide Expansions.- Mechanisms of DNA Repeat Expansion.- Disorders Associated with Non-coding Repeats.- Molecular Correlates of Fragile X Syndrome and FXTAS.- The Neglected Fragile X Mutations: FRAXE and FRAXF.- Friedreich Ataxia.- Dodecamer Repeat Expansion in Progressive Myoclonus Epilepsy 1.- Myotonic Dystrophies Types 1 and 2.- Spinocerebellar Ataxia Type 8.- Recent Progress in Spinocerebellar Ataxia Type 10.- Disorders Associated with Coding Repeats.- Polyglutamine Diseases.- The Enigma of Spinocerebellar Ataxia Type 6.- Disorders Associated with Repeats in an Undetermined Location.- Spinocerebellar Ataxia Type 12 and Huntington's Disease-Like 2: Clues to Pathogenesis.- Postscript.- Current Issues and Therapeutic Prospects.

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    Available at 87 libraries

Details

  • NCID
    BA78426015
  • ISBN
    • 9783540333357
  • LCCN
    2006927799
  • Country Code
    gw
  • Title Language Code
    eng
  • Text Language Code
    eng
  • Place of Publication
    Berlin
  • Pages/Volumes
    xvii, 293 p.
  • Size
    24 cm
  • Parent Bibliography ID
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