Human Nucleotide Expansion Disorders / Edition 1

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Overview

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.

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Editorial Reviews

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"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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Product Details

  • ISBN-13: 9783540333357
  • Publisher: Springer Berlin Heidelberg
  • Publication date: 8/18/2006
  • Series: Nucleic Acids and Molecular Biology Series , #19
  • Edition description: 2006
  • Edition number: 1
  • Pages: 293
  • Product dimensions: 6.30 (w) x 9.40 (h) x 0.90 (d)

Table of Contents

Molecular Bases of Nucleotide Expansions. Mechanisms of DNA Repeat Expansion.- Disorders Associated With Non-Coding Repeats. Molecular Correlations if Fragile X Syndrome and FXTAs. The Neglected Fragile X Mutations: FRAXE and FRAXF. Friedreich Ataxia. Dodecamer Repeat Expansion in Progressive Myoclonus Epilepsy 1 (EPM1). Myotonic Dystrophies Types 1 and 2 . Spinocerebellar Ataxia Type 8 (SCA8). Recent Progress in Spinocerebellar Ataxia Type-10.- Disorders Associated With Coding Repeats. Polyglutamine Diseases.- The Enigma of Spinocerebellar Ataxia 6. Disorders Associated With Repeats in an Undetermined Location. Spinocerebellar Ataxia Type 12 and Huntington’s Disease-like 2: Clues to Pathogenesis.- Current Issues and Therapeutic Prospects.

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