Literature DB >> 11801394

The gene for a novel glycosyltransferase is mutated in congenital muscular dystrophy MDC1C and limb girdle muscular dystrophy 2I.

Martin Brockington, Derek J Blake, Susan C Brown, Francesco Muntoni.   

Abstract

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Year:  2002        PMID： 11801394     DOI： 10.1016/s0960-8966(01)00325-x

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


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  4 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.  Intensity dependent confidence intervals on microarray measurements of differentially expressed genes: a case study of the effect of MK5, FKRP and TAF4 on the transcriptome.

Authors:  Werner Van Belle; Nancy Gerits; Kirsti Jakobsen; Vigdis Brox; Marijke Van Ghelue; Ugo Moens
Journal:  Gene Regul Syst Bio       Date:  2007-07-17

3.  ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies.

Authors:  Sebahattin Cirak; Aileen Reghan Foley; Ralf Herrmann; Tobias Willer; Shu Yau; Elizabeth Stevens; Silvia Torelli; Lina Brodd; Alisa Kamynina; Petr Vondracek; Helen Roper; Cheryl Longman; Rudolf Korinthenberg; Gianni Marrosu; Peter Nürnberg; Daniel E Michele; Vincent Plagnol; Matt Hurles; Steven A Moore; Caroline A Sewry; Kevin P Campbell; Thomas Voit; Francesco Muntoni
Journal:  Brain       Date:  2013-01-03       Impact factor: 13.501

Review 4.  The role of defective glycosylation in congenital muscular dystrophy.

Authors:  Harry Schachter; Jiri Vajsar; Wenli Zhang
Journal:  Glycoconj J       Date:  2004       Impact factor: 3.009
  4 in total

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