Editors:
- 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)
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Front Matter
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Molecular Bases of Nucleotide Expansions
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Front Matter
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Disorders Associated with Non-coding Repeats
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Front Matter
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Disorders Associated with Coding Repeats
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Front Matter
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Disorders Associated with Repeats in an Undetermined Location
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Front Matter
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Postscript
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Front Matter
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Back Matter
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
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Department of Biochemistry Rappaport Faculty of Medicine, Technion — Israel Institute of Technology, Haifa, Israel
Michael Fry
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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
Bibliographic Information
Book Title: Human Nucleotide Expansion Disorders
Editors: Michael Fry, Karen Usdin
Series Title: Nucleic Acids and Molecular Biology
DOI: https://doi.org/10.1007/3-540-33336-3
Publisher: Springer Berlin, Heidelberg
eBook Packages: Biomedical and Life Sciences, Biomedical and Life Sciences (R0)
Copyright Information: Springer-Verlag Berlin Heidelberg 2006
Hardcover ISBN: 978-3-540-33335-7Published: 18 August 2006
Softcover ISBN: 978-3-642-06997-0Published: 20 November 2010
eBook ISBN: 978-3-540-33336-4Published: 15 February 2007
Series ISSN: 0933-1891
Series E-ISSN: 1869-2486
Edition Number: 1
Number of Pages: XVIII, 294
Topics: Neurobiology, Neurosciences, Human Genetics, Cell Biology, Biochemistry, general