Literature DB >> 12707421

The limb-girdle muscular dystrophies: genetic and phenotypic definition of a disputed entity.

Matthew P Wicklund, David Hilton-Jones.   

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Year:  2003        PMID： 12707421     DOI： 10.1212/wnl.60.8.1230

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


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  5 in total

1.  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

2.  Delay in diagnosis of muscle disorders depends on the subspecialty of the initially consulted physician.

Authors:  Simone Spuler; Andrea Stroux; Franziska Kuschel; Adelheid Kuhlmey; Friederike Kendel
Journal:  BMC Health Serv Res       Date:  2011-05-04       Impact factor: 2.655

3.  A rare case of late-onset limb-girdle muscular dystrophy: Calpainopathy.

Authors:  Bhawana Painkra; Richa Mallick; Sumanta Das; Pramod Kumar; Prasun Chatterjee
Journal:  Aging Med (Milton)       Date:  2022-07-29

4.  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

5.  Quantitative magnetic resonance imaging in limb-girdle muscular dystrophy 2I: a multinational cross-sectional study.

Authors:  Tracey A Willis; Kieren G Hollingsworth; Anna Coombs; Marie-Louise Sveen; Soren Andersen; Tanya Stojkovic; Michelle Eagle; Anna Mayhew; Paulo Loureiro de Sousa; Liz Dewar; Jasper M Morrow; Christopher D J Sinclair; John S Thornton; Kate Bushby; Hanns Lochmuller; Michael G Hanna; Jean-Yves Hogrel; Pierre G Carlier; John Vissing; Volker Straub
Journal:  PLoS One       Date:  2014-02-28       Impact factor: 3.240
  5 in total

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