Literature DB >> 10712016

50th ENMC International Workshop: congenital muscular dystrophy. 28 February 1997 to 2 March 1997, Naarden, The Netherlands.

V Dubowitz.   

Abstract

Entities:  

Mesh：

Year:  1997        PMID： 10712016

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


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  8 in total

Review 1.  The muscular dystrophies.

Authors:  A E Emery
Journal:  BMJ       Date:  1998-10-10

2.  Molecular mechanism of rigid spine with muscular dystrophy type 1 caused by novel mutations of selenoprotein N gene.

Authors:  Yuji Okamoto; Hiroshi Takashima; Itsuro Higuchi; Wataru Matsuyama; Masahito Suehara; Yasushi Nishihira; Akihiro Hashiguchi; Ryuki Hirano; Arlene R Ng; Masanori Nakagawa; Shuji Izumo; Mitsuhiro Osame; Kimiyoshi Arimura
Journal:  Neurogenetics       Date:  2006-06-15       Impact factor: 2.660

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.  Rigid Spine Syndrome among Children in Oman.

Authors:  Roshan Koul; Dilip Sankhla; Suad Al-Jahdhami; Renjith Mani; Rana A Rahim; Saif Al-Yaarubi; Hussein Al-Kindy; Khalid Al-Thihli; Amna Al-Futaisi
Journal:  Sultan Qaboos Univ Med J       Date:  2015-08-24

5.  Mutations in COL6A3 cause severe and mild phenotypes of Ullrich congenital muscular dystrophy.

Authors:  Ercan Demir; Patrizia Sabatelli; Valérie Allamand; Ana Ferreiro; Behzad Moghadaszadeh; Mohamed Makrelouf; Haluk Topaloglu; Bernard Echenne; Luciano Merlini; Pascale Guicheney
Journal:  Am J Hum Genet       Date:  2002-04-24       Impact factor: 11.025

Review 6.  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

7.  Rigid spine syndrome: a noninvasive cardiac evaluation.

Authors:  Joerg-Patrick Stübgen
Journal:  Pediatr Cardiol       Date:  2007-09-05       Impact factor: 1.655

8.  Assignment of the muscle-eye-brain disease gene to 1p32-p34 by linkage analysis and homozygosity mapping.

Authors:  B Cormand; K Avela; H Pihko; P Santavuori; B Talim; H Topaloglu; A de la Chapelle; A E Lehesjoki
Journal:  Am J Hum Genet       Date:  1999-01       Impact factor: 11.025
  8 in total

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