Early onset collagen VI myopathies: Genetic and clinical correlations-Reference-Cited by-同舟云学术

Early onset collagen VI myopathies: Genetic and clinical correlations

Published:2010-10 Issue:4 Volume:68 Page:511-520
ISSN:0364-5134
Container-title:Annals of Neurology
language:en
Short-container-title:Ann Neurol.

Author:

Briñas Laura,Richard Pascale,Quijano-Roy Susana,Gartioux Corine,Ledeuil Céline,Lacène Emmanuelle,Makri Samira,Ferreiro Ana,Maugenre Svetlana,Topaloglu Haluk,Haliloglu Göknur,Pénisson-Besnier Isabelle,Jeannet Pierre-Yves,Merlini Luciano,Navarro Carmen,Toutain Annick,Chaigne Denys,Desguerre Isabelle,de Die-Smulders Christine,Dunand Murielle,Echenne Bernard,Eymard Bruno,Kuntzer Thierry,Maincent Kim,Mayer Michèle,Plessis Ghislaine,Rivier François,Roelens Filip,Stojkovic Tanya,Lía Taratuto Ana,Lubieniecki Fabiana,Monges Soledad,Tranchant Christine,Viollet Louis,Romero Norma B.,Estournet Brigitte,Guicheney Pascale,Allamand Valérie

Publisher

Wiley

Subject

Neurology (clinical),Neurology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ana.22087/fullpdf

Reference39 articles.

1. Sequence analysis of alpha 1(VI) and alpha 2(VI) chains of human type VI collagen reveals internal triplication of globular domains similar to the A domains of von Willebrand factor and two alpha 2(VI) chain variants that differ in the carboxy terminus;Chu;EMBO J,1989

2. Mosaic structure of globular domains in the human type VI collagen alpha 3 chain: similarity to von Willebrand factor, fibronectin, actin, salivary proteins and aprotinin type protease inhibitors;Chu;EMBO J,1990

3. Molecular assembly, secretion, and matrix deposition of type VI collagen;Engvall;J Cell Biol,1986

4. 166th ENMC International Workshop on Collagen type VI-Related Myopathies, 22-24 May 2009, Naarden, the Netherlands;Allamand;Neuromuscul Disord,2010

5. Collagen VI related muscle disorders;Lampe;J Med Genet,2005

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