Literature DB >> 8173355

22nd ENMC sponsored workshop on congenital muscular dystrophy held in Baarn, The Netherlands, 14-16 May 1993.

V Dubowitz1.   

Abstract

Entities:  

Mesh：

Year:  1994        PMID： 8173355     DOI： 10.1016/0960-8966(94)90051-5

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


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  12 in total

1.  Substitution of a conserved cysteine-996 in a cysteine-rich motif of the laminin alpha2-chain in congenital muscular dystrophy with partial deficiency of the protein.

Authors:  M Nissinen; A Helbling-Leclerc; X Zhang; T Evangelista; H Topaloglu; C Cruaud; J Weissenbach; M Fardeau; F M Tomé; K Schwartz; K Tryggvason; P Guicheney
Journal:  Am J Hum Genet       Date:  1996-06       Impact factor: 11.025

Review 2.  Syndromes with lissencephaly.

Authors:  D T Pilz; O W Quarrell
Journal:  J Med Genet       Date:  1996-04       Impact factor: 6.318

3.  Refinement of the laminin alpha2 chain locus to human chromosome 6q2 in severe and mild merosin deficient congenital muscular dystrophy.

Authors:  I S Naom; M D'Alessandro; H Topaloglu; C Sewry; A Ferlini; A Helbling-Leclerc; P Guicheney; J Weissenbach; K Schwartz; K Bushby; J Philpot; V Dubowitz; F Muntoni
Journal:  J Med Genet       Date:  1997-02       Impact factor: 6.318

4.  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

5.  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

6.  Localisation of merosin-positive congenital muscular dystrophy to chromosome 4p16.3.

Authors:  G S Sellick; C Longman; M Brockington; I Mahjneh; L Sagi; K Bushby; H Topaloğlu; F Muntoni; R S Houlston
Journal:  Hum Genet       Date:  2005-05-11       Impact factor: 4.132

7.  PCR based mutation screening of the laminin alpha2 chain gene (LAMA2): application to prenatal diagnosis and search for founder effects in congenital muscular dystrophy.

Authors:  P Guicheney; N Vignier; X Zhang; Y He; C Cruaud; V Frey; A Helbling-Leclerc; P Richard; B Estournet; L Merlini; H Topaloglu; M Mora; J P Harpey; C A Haenggeli; A Barois; B Hainque; K Schwartz; F M Tomé; M Fardeau; K Tryggvason
Journal:  J Med Genet       Date:  1998-03       Impact factor: 6.318

8.  Congenital muscular dystrophy with laminin alpha 2 chain deficiency: identification of a new intermediate phenotype and correlation of clinical findings to muscle immunohistochemistry.

Authors:  R Herrmann; V Straub; K Meyer; T Kahn; M Wagner; T Voit
Journal:  Eur J Pediatr       Date:  1996-11       Impact factor: 3.183

9.  Congenital muscular dystrophy and severe central nervous system atrophy in two siblings.

Authors:  Q H Leyten; P G Barth; F J Gabreëls; K Renkawek; W O Renier; A A Gabreëls-Festen; H J ter Laak; M G Smits
Journal:  Acta Neuropathol       Date:  1995       Impact factor: 17.088

10.  Prevalence of congenital muscular dystrophy in Italy: a population study.

Authors:  Alessandra Graziano; Flaviana Bianco; Adele D'Amico; Isabella Moroni; Sonia Messina; Claudio Bruno; Elena Pegoraro; Marina Mora; Guja Astrea; Francesca Magri; Giacomo P Comi; Angela Berardinelli; Maurizio Moggio; Lucia Morandi; Antonella Pini; Roberta Petillo; Giorgio Tasca; Mauro Monforte; Carlo Minetti; Tiziana Mongini; Enzo Ricci; Ksenija Gorni; Roberta Battini; Marcello Villanova; Luisa Politano; Francesca Gualandi; Alessandra Ferlini; Francesco Muntoni; Filippo Maria Santorelli; Enrico Bertini; Marika Pane; Eugenio Mercuri
Journal:  Neurology       Date:  2015-02-04       Impact factor: 9.910
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