Literature DB >> 7981586

Some unanswered questions in Duchenne muscular dystrophy.

A E Emery1.   

Abstract

Though the molecular and biochemical bases of Duchenne muscular dystrophy are known, many questions still remain unanswered. They range from the nature and cause of gene deletions to the relationship between dystrophin defects and the clinical phenotype, both in affected males and female carriers. These questions are discussed in the light of recent developments.

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Year:  1994        PMID: 7981586     DOI: 10.1016/0960-8966(94)90065-5

Source DB:  PubMed          Journal:  Neuromuscul Disord        ISSN: 0960-8966            Impact factor:   4.296


  8 in total

Review 1.  Mechanisms of resistance to pathogenesis in muscular dystrophies.

Authors:  J P Infante; V A Huszagh
Journal:  Mol Cell Biochem       Date:  1999-05       Impact factor: 3.396

Review 2.  Recent advances in muscular dystrophies and myopathies.

Authors:  J R Anderson
Journal:  J Clin Pathol       Date:  1995-07       Impact factor: 3.411

3.  Macroglossia.

Authors:  Nikolaos Topouzelis; Christos Iliopoulos; Olga Elpis Kolokitha
Journal:  Int Dent J       Date:  2011-04       Impact factor: 2.607

4.  Full-length dystrophin expression in half of the heart cells ameliorates beta-isoproterenol-induced cardiomyopathy in mdx mice.

Authors:  Yongping Yue; Jeffrey W Skimming; Mingju Liu; Tammy Strawn; Dongsheng Duan
Journal:  Hum Mol Genet       Date:  2004-06-09       Impact factor: 6.150

5.  Microdystrophin gene therapy of cardiomyopathy restores dystrophin-glycoprotein complex and improves sarcolemma integrity in the mdx mouse heart.

Authors:  Yongping Yue; Zhenbo Li; Scott Q Harper; Robin L Davisson; Jeffrey S Chamberlain; Dongsheng Duan
Journal:  Circulation       Date:  2003-09-02       Impact factor: 29.690

6.  Genotype and phenotype characterization in a large dystrophinopathic cohort with extended follow-up.

Authors:  Francesca Magri; Alessandra Govoni; Maria Grazia D'Angelo; Roberto Del Bo; Serena Ghezzi; Gandossini Sandra; Anna Carla Turconi; Monica Sciacco; Patrizia Ciscato; Andreina Bordoni; Silvana Tedeschi; Francesco Fortunato; Valeria Lucchini; Sara Bonato; Costanza Lamperti; Domenico Coviello; Yvan Torrente; Stefania Corti; Maurizio Moggio; Nereo Bresolin; Giacomo Pietro Comi
Journal:  J Neurol       Date:  2011-03-12       Impact factor: 4.849

7.  Clinical and molecular characterization of a cohort of patients with novel nucleotide alterations of the Dystrophin gene detected by direct sequencing.

Authors:  Francesca Magri; Roberto Del Bo; Maria G D'Angelo; Alessandra Govoni; Serena Ghezzi; Sandra Gandossini; Monica Sciacco; Patrizia Ciscato; Andreina Bordoni; Silvana Tedeschi; Francesco Fortunato; Valeria Lucchini; Matteo Cereda; Stefania Corti; Maurizio Moggio; Nereo Bresolin; Giacomo P Comi
Journal:  BMC Med Genet       Date:  2011-03-11       Impact factor: 2.103

8.  Analysis of human sarcospan as a candidate gene for CFEOM1.

Authors:  K F O'Brien; E C Engle; L M Kunkel
Journal:  BMC Genet       Date:  2001-02-06       Impact factor: 2.797

  8 in total

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