Literature DB >> 4116433

Continuous muscle fiber activity in the Schwartz-Jampel syndrome.

R G Taylor, R B Layzer, H S Davis, W M Fowler.   

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Year:  1972        PMID： 4116433     DOI： 10.1016/0013-4694(72)90213-1

Source DB:  PubMed          Journal:  Electroencephalogr Clin Neurophysiol        ISSN： 0013-4694


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  4 in total

1.  Isolated muscle hypertrophy as a sign of radicular or peripheral nerve injury.

Authors:  H P Mattle; C W Hess; H P Ludin; M Mumenthaler
Journal:  J Neurol Neurosurg Psychiatry       Date:  1991-04       Impact factor: 10.154

2.  Schwartz-Jampel syndrome in two daughters of first cousins.

Authors:  L Pavone; F Mollica; A Grasso; A Cao; F Gullotta
Journal:  J Neurol Neurosurg Psychiatry       Date:  1978-02       Impact factor: 10.154

3.  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

4.  A mouse model of Schwartz-Jampel syndrome reveals myelinating Schwann cell dysfunction with persistent axonal depolarization in vitro and distal peripheral nerve hyperexcitability when perlecan is lacking.

Authors:  Marie Bangratz; Nadège Sarrazin; Jérôme Devaux; Désirée Zambroni; Andoni Echaniz-Laguna; Frédérique René; Delphine Boërio; Claire-Sophie Davoine; Bertrand Fontaine; Maria Laura Feltri; Evelyne Benoit; Sophie Nicole
Journal:  Am J Pathol       Date:  2012-03-23       Impact factor: 4.307
  4 in total

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