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portada inherited neuromuscular diseases: translation from pathomechanisms to therapies
Type
Physical Book
Publisher
Year
2012
Language
English
Pages
304
Format
Paperback
Dimensions
23.4 x 15.6 x 1.7 cm
Weight
0.45 kg.
ISBN
940073056x
ISBN13
9789400730564

inherited neuromuscular diseases: translation from pathomechanisms to therapies

Carmen Espinós (Illustrated by) · Vicente Felipo (Illustrated by) · Francesc Palau (Illustrated by) · Springer · Paperback

inherited neuromuscular diseases: translation from pathomechanisms to therapies - Espinós, Carmen ; Felipo, Vicente ; Palau, Francesc

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Synopsis "inherited neuromuscular diseases: translation from pathomechanisms to therapies"

This volume contains the text of the presentations delivered at the International Symposium on Rare Diseases "Inherited Neuromuscular Diseases: Translation from Pathomechanisms to Therapies", held in Valencia, Spain, from November 16 to 18, 2008. The symposium represents a part of the continuous efforts on dif- sion of science to the society of the Cátedra Santiago Grisolía and the Fundación Ciudad de las Artes y las Ciencias -Comunitat Valenciana. More than 200 inter- tional scientists from different countries of Europe, the USA, and Australia attended the meeting. The venue was the Auditorium of the Science Museum Príncipe Felipe. Ten years ago Alan Emery wrote in the preface of Neuromuscular Disorders: Clinical and Molecular Genetics the following comments: "It has been estimated that more than one person in every 3,000 has a serious disabling inherited n- romuscular disorder. The suffering caused by these disorders is considerable, but, until the last decade or so, virtually nothing was known of their pathogenesis. Any rationale approach to treatment was therefore out of the question. However, matters are now changing rapidly. The genes for many of these disorders have been localised and characterised and their gene products identi ed and studied. The detection of preclinical disease, the identi cation of heterozygous carriers and prenatal di- nosis are all becoming possible, and, hopefully, effective treatments may no be too far distant.

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