Human Nucleotide Expansion Disorders

By: Michael Fry (Editor), Karen Usdin (Editor)

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Hardcover | 18 August 2006

At a Glance

Hardcover
312 Pages

Dimensions(cm)
23.39 x 15.6 x 1.91

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$329.00

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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.

Industry 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)

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You Can Find This Book In

Non-Fiction Science Biology, Life Sciences Cellular Biology Life Sciences in General Neurosciences Biochemistry Medicine Pre-Clinical Medicine & Basic Sciences Medical Genetics Zoology & Animal Sciences Clinical & Internal Medicine

Neurology & Clinical Neurophysiology Genetics excluding Medical Molecular Biology Diseases & Disorders

Mechanisms of DNA repeat expansion	p. 3
Molecular correlates of fragile X syndrome and FXTAS	p. 57
The neglected fragile X mutations : FRAXE and FRAXF	p. 87
Friedreich ataxia	p. 103
Dodecamer repeat expansion in progressive myoclonus epilepsy 1	p. 121
Myotonic dystrophies types 1 and 2	p. 143
Spinocerebellar ataxia type 8	p. 167
Recent progress in spinocerebellar ataxia type 10	p. 185
Polyglutamine diseases	p. 199
The enigma of spinocerebellar ataxia type 6	p. 233
Spinocerebellar ataxia type 12 and Huntington's disease-like 2 : clues to pathogenesis	p. 253
Current issues and therapeutic prospects	p. 279
Table of Contents provided by Blackwell. All Rights Reserved.

Human Nucleotide Expansion Disorders

At a Glance

Hardcover

Industry Reviews

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How to return your order

Defective items

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