Literature DB >> 12467737

The 105th ENMC sponsored workshop: pathogenesis in the non-sarcoglycan limb-girdle muscular dystrophies, Naarden, April 12-14, 2002.

K M D Bushby1, J S Beckmann.   

Abstract

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Mesh：

Year:  2003        PMID： 12467737     DOI： 10.1016/s0960-8966(02)00183-9

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


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  16 in total

1.  Mdm muscular dystrophy: interactions with calpain 3 and a novel functional role for titin's N2A domain.

Authors:  Kimberly A Huebsch; Elena Kudryashova; Christine M Wooley; Roger B Sher; Kevin L Seburn; Melissa J Spencer; Gregory A Cox
Journal:  Hum Mol Genet       Date:  2005-08-22       Impact factor: 6.150

2.  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

3.  The effect of calpain 3 deficiency on the pattern of muscle degeneration in the earliest stages of LGMD2A.

Authors:  M Vainzof; F de Paula; A M Tsanaclis; M Zatz
Journal:  J Clin Pathol       Date:  2003-08       Impact factor: 3.411

4.  Exome sequencing identifies a DNAJB6 mutation in a family with dominantly-inherited limb-girdle muscular dystrophy.

Authors:  Julien Couthouis; Alya R Raphael; Carly Siskind; Andrew R Findlay; Jason D Buenrostro; William J Greenleaf; Hannes Vogel; John W Day; Kevin M Flanigan; Aaron D Gitler
Journal:  Neuromuscul Disord       Date:  2014-02-10       Impact factor: 4.296

Review 5.  Calpain 3, the "gatekeeper" of proper sarcomere assembly, turnover and maintenance.

Authors:  Jacques S Beckmann; Melissa Spencer
Journal:  Neuromuscul Disord       Date:  2008-10-29       Impact factor: 4.296

6.  Muscle protein alterations in LGMD2I patients with different mutations in the Fukutin-related protein gene.

Authors:  Lydia U Yamamoto; Fernando J Velloso; Bruno L Lima; Luciana L Q Fogaça; Flávia de Paula; Natássia M Vieira; Mayana Zatz; Mariz Vainzof
Journal:  J Histochem Cytochem       Date:  2008-07-21       Impact factor: 2.479

7.  Calpain-3 mutations in Turkey.

Authors:  Burcu Balci; Stefania Aurino; Göknur Haliloglu; Beril Talim; Sevim Erdem; Zuhal Akcören; Ersin Tan; Melda Caglar; Isabelle Richard; Vincenzo Nigro; Haluk Topaloglu; Pervin Dincer
Journal:  Eur J Pediatr       Date:  2006-01-13       Impact factor: 3.183

8.  Homologous recombination mediates functional recovery of dysferlin deficiency following AAV5 gene transfer.

Authors:  William E Grose; K Reed Clark; Danielle Griffin; Vinod Malik; Kimberly M Shontz; Chrystal L Montgomery; Sarah Lewis; Robert H Brown; Paul M L Janssen; Jerry R Mendell; Louise R Rodino-Klapac
Journal:  PLoS One       Date:  2012-06-15       Impact factor: 3.240

9.  How to tackle the diagnosis of limb-girdle muscular dystrophy 2A.

Authors:  Marina Fanin; Anna Chiara Nascimbeni; Elisabetta Tasca; Corrado Angelini
Journal:  Eur J Hum Genet       Date:  2008-10-15       Impact factor: 4.246

10.  Quantitative muscle MRI as an assessment tool for monitoring disease progression in LGMD2I: a multicentre longitudinal study.

Authors:  Tracey A Willis; Kieren G Hollingsworth; Anna Coombs; Marie-Louise Sveen; Søren Andersen; Tanya Stojkovic; Michelle Eagle; Anna Mayhew; Paulo L de Sousa; Liz Dewar; Jasper M Morrow; Christopher D J Sinclair; John S Thornton; Kate Bushby; Hanns Lochmüller; Michael G Hanna; Jean-Yves Hogrel; Pierre G Carlier; John Vissing; Volker Straub
Journal:  PLoS One       Date:  2013-08-14       Impact factor: 3.240
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