Literature DB >> 12787784

Muscular dystrophies: genes to pathogenesis.

Isin Dalkilic1, Louis M Kunkel.   

Abstract

Muscular dystrophies are a genetically heterogeneous group of degenerative muscle disorders. Nearly 30 genes are known to give rise to various forms of muscular dystrophy, which differ in age of onset, severity, and muscle groups affected. The number of genes identified increases each year, adding to our understanding as well as revealing the overall complexity of the pathogenesis of these diseases.

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Year:  2003        PMID: 12787784     DOI: 10.1016/s0959-437x(03)00048-0

Source DB:  PubMed          Journal:  Curr Opin Genet Dev        ISSN: 0959-437X            Impact factor:   5.578


  84 in total

Review 1.  Duchenne muscular dystrophy and dystrophin: pathogenesis and opportunities for treatment.

Authors:  Kristen J Nowak; Kay E Davies
Journal:  EMBO Rep       Date:  2004-09       Impact factor: 8.807

Review 2.  Membrane domains based on ankyrin and spectrin associated with cell-cell interactions.

Authors:  Vann Bennett; Jane Healy
Journal:  Cold Spring Harb Perspect Biol       Date:  2009-08-19       Impact factor: 10.005

3.  α-Dystrobrevin distribution and association with other proteins in human promyelocytic NB4 cells treated for granulocytic differentiation.

Authors:  V V Borutinskaite; K-E Magnusson; R Navakauskiene
Journal:  Mol Biol Rep       Date:  2010-01-29       Impact factor: 2.316

4.  Dystrophin-associated protein scaffolding in brain requires alpha-dystrobrevin.

Authors:  April D Bragg; Sonal S Das; Stanley C Froehner
Journal:  Neuroreport       Date:  2010-07-14       Impact factor: 1.837

Review 5.  Progress in gene therapy of dystrophic heart disease.

Authors:  Y Lai; D Duan
Journal:  Gene Ther       Date:  2012-02-09       Impact factor: 5.250

6.  Matrix metalloproteinase inhibitor batimastat alleviates pathology and improves skeletal muscle function in dystrophin-deficient mdx mice.

Authors:  Akhilesh Kumar; Shephali Bhatnagar; Ashok Kumar
Journal:  Am J Pathol       Date:  2010-05-14       Impact factor: 4.307

Review 7.  The muscular dystrophies: from genes to therapies.

Authors:  Richard M Lovering; Neil C Porter; Robert J Bloch
Journal:  Phys Ther       Date:  2005-12

Review 8.  Extracellular matrix and its receptors in Drosophila neural development.

Authors:  Kendal Broadie; Stefan Baumgartner; Andreas Prokop
Journal:  Dev Neurobiol       Date:  2011-11       Impact factor: 3.964

9.  Microutrophin delivery through rAAV6 increases lifespan and improves muscle function in dystrophic dystrophin/utrophin-deficient mice.

Authors:  Guy L Odom; Paul Gregorevic; James M Allen; Eric Finn; Jeffrey S Chamberlain
Journal:  Mol Ther       Date:  2008-07-29       Impact factor: 11.454

10.  Proteomic Profiling of the Dystrophin-Deficient MDX Heart Reveals Drastically Altered Levels of Key Metabolic and Contractile Proteins.

Authors:  Caroline Lewis; Harald Jockusch; Kay Ohlendieck
Journal:  J Biomed Biotechnol       Date:  2010-05-23
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