Literature DB >> 10545052

68th ENMC international workshop (5th international workshop): On congenital muscular dystrophy, 9-11 April 1999, Naarden, The Netherlands.

V Dubowitz.   

Abstract

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Year:  1999        PMID： 10545052     DOI： 10.1016/s0960-8966(99)00074-7

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


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  7 in total

1.  Age and origin of the FCMD 3'-untranslated-region retrotransposal insertion mutation causing Fukuyama-type congenital muscular dystrophy in the Japanese population.

Authors:  R Colombo; A A Bignamini; A Carobene; J Sasaki; M Tachikawa; K Kobayashi; T Toda
Journal:  Hum Genet       Date:  2000-12       Impact factor: 4.132

2.  Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan.

Authors:  M Brockington; D J Blake; P Prandini; S C Brown; S Torelli; M A Benson; C P Ponting; B Estournet; N B Romero; E Mercuri; T Voit; C A Sewry; P Guicheney; F Muntoni
Journal:  Am J Hum Genet       Date:  2001-10-08       Impact factor: 11.025

Review 3.  The expanding phenotype of laminin alpha2 chain (merosin) abnormalities: case series and review.

Authors:  K J Jones; G Morgan; H Johnston; V Tobias; R A Ouvrier; I Wilkinson; K N North
Journal:  J Med Genet       Date:  2001-10       Impact factor: 6.318

4.  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

5.  Systemic delivery of human mesenchymal stromal cells combined with IGF-1 enhances muscle functional recovery in LAMA2 dy/2j dystrophic mice.

Authors:  Mariane Secco; Carlos Bueno; Natassia M Vieira; Camila Almeida; Mayra Pelatti; Eder Zucconi; Paolo Bartolini; Mariz Vainzof; Elen H Miyabara; Oswaldo K Okamoto; Mayana Zatz
Journal:  Stem Cell Rev Rep       Date:  2013-02       Impact factor: 5.739

Review 6.  Walker-Warburg syndrome.

Authors:  Jiri Vajsar; Harry Schachter
Journal:  Orphanet J Rare Dis       Date:  2006-08-03       Impact factor: 4.123

Review 7.  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
  7 in total

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