Inherited Neuromuscular Diseases: Translation from Pathomechanisms to Therapies: 652 2009th Edition
Author(s): Carmen Espinós (Editor), Vicente Felipo (Editor), Francesc Palau (Editor)
Publisher: Springer
Publication Date: 14 Mar. 2012
Edition: 2009th
Language: English
Print length: 317 pages
ISBN-10: 940073056X
ISBN-13: 9789400730564
Book Description
This reference on the state-of-the-art of neuromuscular diseases as a whole offers a current review of inherited neuromuscular diseases under different approaches: genetics, pathomechanisms, therapies and treatments.
Inherited Neuromuscular Diseases: Translation from Pathomechanisms to Therapies: 652 2009th Edition
Author(s): Carmen Espinós (Editor), Vicente Felipo (Editor), Francesc Palau (Editor)
Publisher: Springer
Publication Date: 13 Oct. 2009
Edition: 2009th
Language: English
Print length: 317 pages
ISBN-10: 9048128129
ISBN-13: 9789048128129
Book Description
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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