Literature DB >> 21140542

The 2011 version of the gene table of neuromuscular disorders.

Jean-Claude Kaplan1.   

Abstract

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Year:  2010        PMID： 21140542     DOI： 10.1016/j.nmd.2010.10.001

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


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  5 in total

1.  A study of FHL1, BAG3, MATR3, PTRF and TCAP in Australian muscular dystrophy patients.

Authors:  Leigh B Waddell; Jenny Tran; Xi F Zheng; Carsten G Bönnemann; Ying Hu; Frances J Evesson; Monkol Lek; Susan Arbuckle; Min-Xia Wang; Robert L Smith; Kathryn N North; Nigel F Clarke
Journal:  Neuromuscul Disord       Date:  2011-06-17       Impact factor: 4.296

2.  Mutations in the satellite cell gene MEGF10 cause a recessive congenital myopathy with minicores.

Authors:  Steven E Boyden; Lane J Mahoney; Genri Kawahara; Jennifer A Myers; Satomi Mitsuhashi; Elicia A Estrella; Anna R Duncan; Friederike Dey; Elizabeth T DeChene; Jessica M Blasko-Goehringer; Carsten G Bönnemann; Basil T Darras; Jerry R Mendell; Hart G W Lidov; Ichizo Nishino; Alan H Beggs; Louis M Kunkel; Peter B Kang
Journal:  Neurogenetics       Date:  2012-02-28       Impact factor: 2.660

3.  Next generation sequencing for molecular diagnosis of neuromuscular diseases.

Authors:  Nasim Vasli; Johann Böhm; Stéphanie Le Gras; Jean Muller; Cécile Pizot; Bernard Jost; Andoni Echaniz-Laguna; Vincent Laugel; Christine Tranchant; Rafaelle Bernard; Frédéric Plewniak; Serge Vicaire; Nicolas Levy; Jamel Chelly; Jean-Louis Mandel; Valérie Biancalana; Jocelyn Laporte
Journal:  Acta Neuropathol       Date:  2012-04-18       Impact factor: 17.088

4.  Undiagnosed genetic muscle disease in the north of England: an in depth phenotype analysis.

Authors:  Elizabeth Harris; Steve Laval; Judith Hudson; Rita Barresi; Liesbeth De Waele; Volker Straub; Hanns Lochmüller; Kate Bushby; Anna Sarkozy
Journal:  PLoS Curr       Date:  2013-05-21

5.  Whole exome sequencing identifies a novel EMD mutation in a Chinese family with dilated cardiomyopathy.

Authors:  Mingqiu Zhang; Jia Chen; Dayong Si; Yu Zheng; Haixu Jiao; Zhaohui Feng; Zhengmao Hu; Ranhui Duan
Journal:  BMC Med Genet       Date:  2014-07-05       Impact factor: 2.103
  5 in total

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