Literature DB >> 10712013

Proceedings of the 27th ENMC sponsored workshop on congenital muscular dystrophy. 22-24 April 1994, The Netherlands.

V Dubowitz1, M Fardeau.   

Abstract

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Mesh：

Year:  1995        PMID： 10712013     DOI： 10.1016/0960-8966(95)90011-x

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


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  14 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

2.  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

3.  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

4.  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

Review 5.  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

6.  New FKRP mutations causing congenital muscular dystrophy associated with mental retardation and central nervous system abnormalities. Identification of a founder mutation in Tunisian families.

Authors:  Nacim Louhichi; Chahnez Triki; Susana Quijano-Roy; Pascale Richard; Samira Makri; Mériem Méziou; Brigitte Estournet; Slah Mrad; Norma B Romero; Hammadi Ayadi; Pascale Guicheney; Faiza Fakhfakh
Journal:  Neurogenetics       Date:  2003-12-02       Impact factor: 2.660

7.  Abnormalities of dystrophin, the sarcoglycans, and laminin alpha2 in the muscular dystrophies.

Authors:  K J Jones; S S Kim; K N North
Journal:  J Med Genet       Date:  1998-05       Impact factor: 6.318

8.  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

9.  Variable disease severity in Saudi Arabian and Sudanese families with c.3924 + 2 T > C mutation of LAMA2.

Authors:  Claudia Di Blasi; Emanuela Bellafiore; Mustafa Am Salih; M Chiara Manzini; Steven A Moore; Mohammed Z Seidahmed; Maowia M Mukhtar; Zein A Karrar; Christopher A Walsh; Kevin P Campbell; Renato Mantegazza; Lucia Morandi; Marina Mora
Journal:  BMC Res Notes       Date:  2011-12-13

Review 10.  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
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