| Document Type
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BL
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| Record Number
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997254
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| Doc. No
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b751624
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| Title & Author
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Molecular mechanisms of muscular dystrophies /\ [edited by] Steve J. Winder.
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| Publication Statement
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Georgetown, Tex. :: Landes Bioscience :: Eurekah.com,, ©2006.
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| Series Statement
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Molecular biology intelligence unit
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| Page. NO
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1 online resource (233 pages) :: illustrations.
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| ISBN
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1423766601
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: 1598759507
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: 9781423766605
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: 9781598759501
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158706264X
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9781587062643
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| Bibliographies/Indexes
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Includes bibliographical references and index.
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| Contents
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Overview of the limb-girdle muscular dystrophies and dysferlinopathy / Kate M.D. Bushby and S.H. Laval -- Caveolin-3 and limb-girdle muscular dystrophy / Ferruccio Galbiati and Michael P. Lisanti -- The sarcoglycans / Elizabeth M. McNally -- Sarcomeric proteins in LGMD / Olli Carpon -- Lamins and emerin in muscular dystrophy: the nuclear envelope connection / Josef Gotzmann and Roland Foisner -- Distinct mechanisms downstream of the repeat expansion are implicated in the molecular basis of myotonic dystrophy type 1 / Keith Johnson and Rami Jarjour -- Spinal muscular atrophy / Robert Olaso [and others] -- The pathophysiological role of impaired calcium handling in muscular dystrophy / Kay Ohlendieck -- Cell adhesion and signalling in the muscular dystrophies / Steve J. Winder -- Gene therapies for muscular dystrophies / Dominic J. Wells -- Cell therapies for muscular dystrophy / Terence A. Partridge.
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Structure and function of the dystrophin-glycoprotein complex / James M. Ervasti -- The structure and function of dystrophin / Simone Abmayr and Jeff Chamberlain -- Utrophin in the therapy of Duchenne muscular dystrophy / Qing Bai, Edward A. Burton and Kay E. Davies -- Syntrophin: a molecular adaptor conferring a signaling role to the dystrophin-associated protein complex / Justin M. Percival, Marvin E. Adams and Stanley C. Froehner -- Molecular and functional diversity of dystrobrevin-containing complexes / Derek J. Blake and Roy V. Sillitoe -- Commonalities and differences in muscular dystrophies: mechanisms and molecules involved in merosin-deficient congenital muscular dystrophy / Markus A. Ruegg -- Glycosylation and muscular dystrophy / Susan C. Brown and Francesco Muntoni.
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| Abstract
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The first detailed study of the clinical features, hereditary nature and pathology of muscular dystrophy is attributed to Edward Meryon, an English physician, who published his findings in 1852. Yet it was more than 130 years later that the responsible gene for the commonest form of dystrophy, Duchenne muscular dystrophy, was identified and characterised. Subsequently the genes for many other forms of dystrophy have been identified, and it is estimated that there are now approaching 40 such disorders, though some of these are very rare. However once the gene for Duchenne dystrophy had been ide.
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| Subject
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Muscular dystrophy-- Molecular aspects.
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Dystrophie musculaire progressive-- Aspect moléculaire.
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HEALTH FITNESS-- Diseases-- Musculoskeletal.
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MEDICAL-- Orthopedics.
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MEDICAL-- Rheumatology.
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Dystrophin-- genetics.
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Muscular Dystrophies-- genetics.
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Dystrophies musculaires-- génétique.
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Dystrophine-- génétique.
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Dystrophin-Associated Proteins-- genetics.
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| Dewey Classification
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616.7/48042
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| LC Classification
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RC935.M7M67 2006eb
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| NLM classification
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WE 559M717 2006
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WE 559M717 2006.usnl4
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| Added Entry
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Winder, Steve J.
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