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Human Nucleotide Expansion Disorders

  • Book
  • © 2006

Overview

  • State-of-the-art overview on the molecular basis of selected neurological/neuromuscular disorders and possible therapies
  • A valuable source for geneticists, molecular biologists and neurologists alike

Part of the book series: Nucleic Acids and Molecular Biology (NUCLEIC, volume 19)

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Table of contents (12 chapters)

  1. Molecular Bases of Nucleotide Expansions

  2. Disorders Associated with Non-coding Repeats

  3. Disorders Associated with Coding Repeats

  4. Disorders Associated with Repeats in an Undetermined Location

  5. Postscript

Keywords

About this book

Human neurological and neuromuscular disorders caused by nucleotide expansion, first discovered in 1991, 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 expert authors discuss molecular, clinical and pathological aspects of the diseases as well as our current understanding of their underlying mechanisms. Of special interest are ideas and initial results of the different therapeutic strategies that can be employed to overcome some of the disorders. As a summary of the state-of-the-art research in this field, this book is of value to human geneticists, molecular biologists and biochemists as well as to practicing neurologists and pediatricians.

Reviews

From the reviews:

"The authors combine their expertise in diverse areas of molecular genetics to produce a general scope for each disease. Additionally, the corresponding clinical features are briefly discussed, and genotype/phenotype correlations are outlined. The overall result is a useful and concise review which will be of interest to researchers in molecular biology and human genetics, as well as professionals in medicine looking to obtain insights into the ever expanding fields of unstable repeat disorders." (Laura E. Machuca-Tzili, Human Genetics, Vol. 125, June, 2009)

Editors and Affiliations

  • Department of Biochemistry Rappaport Faculty of Medicine, Technion — Israel Institute of Technology, Haifa, Israel

    Michael Fry

  • Gene Structure and Disease Section, Laboratory of Molecular & Cellular Biology, National Institute of Diabetes, Digestive and Kidney Diseases, National Institutes of Health, Bethesda, USA

    Karen Usdin

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