Literature DB >> 11738362

82nd ENMC international workshop, 5th international Emery-Dreifuss muscular dystrophy (EDMD) workshop, 1st Workshop of the MYO-CLUSTER project EUROMEN (European muscle envelope nucleopathies), 15-16 September 2000, Naarden, The Netherlands.

Gisèle Bonne1, Jaqueline Capeau, Marianne De Visser, Denis Duboc, Luciano Merlini, Glenn E Morris, Francesco Muntoni, Dominique Recan, Caroline Sewry, Stefano Squarzoni, Colin Stewart, Beril Talim, Anneke van der Kooi, Howard Worman, Ketty Schwartz.   

Abstract

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Year:  2002        PMID： 11738362     DOI： 10.1016/s0960-8966(01)00243-7

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


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  6 in total

1.  Functions and dysfunctions of the nuclear lamin Ig-fold domain in nuclear assembly, growth, and Emery-Dreifuss muscular dystrophy.

Authors:  Dale K Shumaker; Reynold I Lopez-Soler; Stephen A Adam; Harald Herrmann; Robert D Moir; Timothy P Spann; Robert D Goldman
Journal:  Proc Natl Acad Sci U S A       Date:  2005-10-14       Impact factor: 11.205

Review 2.  Limb-girdle and congenital muscular dystrophies: current diagnostics, management, and emerging technologies.

Authors:  Carolina Tesi Rocha; Eric P Hoffman
Journal:  Curr Neurol Neurosci Rep       Date:  2010-07       Impact factor: 5.081

3.  Mutations of the FHL1 gene cause Emery-Dreifuss muscular dystrophy.

Authors:  Lucie Gueneau; Anne T Bertrand; Jean-Philippe Jais; Mustafa A Salih; Tanya Stojkovic; Manfred Wehnert; Maria Hoeltzenbein; Simone Spuler; Shinji Saitoh; Annie Verschueren; Christine Tranchant; Maud Beuvin; Emmanuelle Lacene; Norma B Romero; Simon Heath; Diana Zelenika; Thomas Voit; Bruno Eymard; Rabah Ben Yaou; Gisèle Bonne
Journal:  Am J Hum Genet       Date:  2009-08-27       Impact factor: 11.025

Review 4.  Emerin in health and disease.

Authors:  Adam J Koch; James M Holaska
Journal:  Semin Cell Dev Biol       Date:  2013-12-21       Impact factor: 7.727

Review 5.  Emery-Dreifuss muscular dystrophy: a test case for precision medicine.

Authors:  De-Ann M Pillers; Nicholas H Von Bergen
Journal:  Appl Clin Genet       Date:  2016-02-24

Review 6.  Nuclear envelopathies: a complex LINC between nuclear envelope and pathology.

Authors:  Alexandre Janin; Delphine Bauer; Francesca Ratti; Gilles Millat; Alexandre Méjat
Journal:  Orphanet J Rare Dis       Date:  2017-08-30       Impact factor: 4.123
  6 in total

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