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Human Nucleotide Expansion Disorders: Nucleic Acids and Molecular Biology, cartea 19

Editat de Michael Fry, Karen Usdin
en Limba Engleză Paperback – 20 noi 2010
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.
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Specificații

ISBN-13: 9783642069970
ISBN-10: 3642069975
Pagini: 312
Ilustrații: XVIII, 294 p.
Dimensiuni: 155 x 235 x 16 mm
Greutate: 0.44 kg
Ediția:Softcover reprint of hardcover 1st ed. 2006
Editura: Springer Berlin, Heidelberg
Colecția Springer
Seria Nucleic Acids and Molecular Biology

Locul publicării:Berlin, Heidelberg, Germany

Public țintă

Research

Cuprins

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.

Recenzii

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)

Textul de pe ultima copertă

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.

Caracteristici

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