Literature DB >> 15053382

Muscular dystrophies.

Monisha Mukherjee1, Balraj Mittal.   

Abstract

Muscular dystrophies are a heterogeneous group of inherited disorders characterized by progressive muscle wasting and weakness. Majority of genes and their protein products responsible for the dystrophies have been identified in recent years. Using molecular studies, now it is possible to establish a precise diagnosis, provide prognosis, detect preclinical cases, identify carriers, and offer prenatal diagnostic testing. Molecular genetic approaches also seem to offer the best prospect for developing effective treatments in the future.

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Year:  2004        PMID： 15053382     DOI： 10.1007/BF02723101

Source DB:  PubMed          Journal:  Indian J Pediatr        ISSN： 0019-5456            Impact factor:   5.319


  47 in total

1.  Carrier detection and prenatal diagnosis in Duchenne and Becker muscular dystrophy families, using dinucleotide repeat polymorphisms.

Authors:  P R Clemens; R G Fenwick; J S Chamberlain; R A Gibbs; M de Andrade; R Chakraborty; C T Caskey
Journal:  Am J Hum Genet       Date:  1991-11       Impact factor: 11.025

2.  Structural analysis of slipped-strand DNA (S-DNA) formed in (CTG)n. (CAG)n repeats from the myotonic dystrophy locus.

Authors:  C E Pearson; Y H Wang; J D Griffith; R R Sinden
Journal:  Nucleic Acids Res       Date:  1998-02-01       Impact factor: 16.971

3.  Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy.

Authors:  B Brais; J P Bouchard; Y G Xie; D L Rochefort; N Chrétien; F M Tomé; R G Lafrenière; J M Rommens; E Uyama; O Nohira; S Blumen; A D Korczyn; P Heutink; J Mathieu; A Duranceau; F Codère; M Fardeau; G A Rouleau; A D Korcyn
Journal:  Nat Genet       Date:  1998-02       Impact factor: 38.330

4.  An agrin minigene rescues dystrophic symptoms in a mouse model for congenital muscular dystrophy.

Authors:  J Moll; P Barzaghi; S Lin; G Bezakova; H Lochmüller; E Engvall; U Müller; M A Ruegg
Journal:  Nature       Date:  2001-09-20       Impact factor: 49.962

Review 5.  Glycosylation defects: a new mechanism for muscular dystrophy?

Authors:  Prabhjit K Grewal; Jane E Hewitt
Journal:  Hum Mol Genet       Date:  2003-08-12       Impact factor: 6.150

Review 6.  The 10 autosomal recessive limb-girdle muscular dystrophies.

Authors:  Mayana Zatz; Flavia de Paula; Alessandra Starling; Mariz Vainzof
Journal:  Neuromuscul Disord       Date:  2003-09       Impact factor: 4.296

7.  Rapid direct sequence analysis of the dystrophin gene.

Authors:  Kevin M Flanigan; Andrew von Niederhausern; Diane M Dunn; Jonathan Alder; Jerry R Mendell; Robert B Weiss
Journal:  Am J Hum Genet       Date:  2003-03-11       Impact factor: 11.025

8.  Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplification.

Authors:  J S Chamberlain; R A Gibbs; J E Ranier; P N Nguyen; C T Caskey
Journal:  Nucleic Acids Res       Date:  1988-12-09       Impact factor: 16.971

9.  Congenital muscular dystrophy with merosin deficiency.

Authors:  F M Tomé; T Evangelista; A Leclerc; Y Sunada; E Manole; B Estournet; A Barois; K P Campbell; M Fardeau
Journal:  C R Acad Sci III       Date:  1994-04

10.  Diversity of the Brain Dystrophin-Glycoprotein Complex.

Authors:  Kevin Culligan; Kay Ohlendieck
Journal:  J Biomed Biotechnol       Date:  2002
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  1 in total

1.  Nitricoxide synthase-induced oxidative stress in prolonged alcoholic myopathies of rats.

Authors:  Jianfeng Wang; Haiying Chu; Hua Zhao; Xueying Cheng; Yanli Liu; Wei Jin; Jinyao Zhao; Bo Liu; Yanfang Ding; Haiying Ma
Journal:  Mol Cell Biochem       Date:  2007-07-03       Impact factor: 3.396
  1 in total

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