Literature DB >> 1947489

Schwartz-Jampel syndrome.

R M Pascuzzi1.   

Abstract

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Year:  1991        PMID： 1947489     DOI： 10.1055/s-2008-1041231

Source DB:  PubMed          Journal:  Semin Neurol        ISSN： 0271-8235            Impact factor:   3.420


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  2 in total

1.  Structural and functional mutations of the perlecan gene cause Schwartz-Jampel syndrome, with myotonic myopathy and chondrodysplasia.

Authors:  Eri Arikawa-Hirasawa; Alexander H Le; Ichizo Nishino; Ikuya Nonaka; Nicola C Ho; Clair A Francomano; Prasanthi Govindraj; John R Hassell; Joseph M Devaney; Jürgen Spranger; Roger E Stevenson; Susan Iannaccone; Marinos C Dalakas; Yoshihiko Yamada
Journal:  Am J Hum Genet       Date:  2002-04-08       Impact factor: 11.025

2.  Clinico-pathogenetic findings and management of chondrodystrophic myotonia (Schwartz-Jampel syndrome): a case report.

Authors:  Nicola C Ho; Stacey Sandusky; Victor Madike; Clair A Francomano; Marinos C Dalakas
Journal:  BMC Neurol       Date:  2003-07-02       Impact factor: 2.474
  2 in total

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