Fibulin-5 mutations link inherited neuropathies, age-related macular degeneration and hyperelastic skin-Reference-Cited by-同舟云学术

Fibulin-5 mutations link inherited neuropathies, age-related macular degeneration and hyperelastic skin

Published:2011-05-14 Issue:6 Volume:134 Page:1839-1852
ISSN:1460-2156
Container-title:Brain
language:en
Short-container-title:

Author:

Auer-Grumbach Michaela,Weger Martin,Fink-Puches Regina,Papić Lea,Fröhlich Eleonore,Auer-Grumbach Piet,El Shabrawi-Caelen Laila,Schabhüttl Maria,Windpassinger Christian,Senderek Jan,Budka Herbert,Trajanoski Slave,Janecke Andreas R.,Haas Anton,Metze Dieter,Pieber Thomas R.,Guelly Christian

Publisher

Oxford University Press (OUP)

Subject

Neurology (clinical)

Link

http://academic.oup.com/brain/article-pdf/134/6/1839/16695120/awr076.pdf

Reference46 articles.

1. Phenotypes of the N88S Berardinelli-Seip congenital lipodystrophy 2 mutation;Auer-Grumbach;Ann Neurol,2005

2. Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C;Auer-Grumbach;Nat Genet,2010

3. Role of intergrins in peripheral nerves and hereditary neuropathies;Berti;Neuromol Med,2006

4. Differential regulation of elastic fiber formation by fibulin-4 and -5;Choudhury;J Biolog Chem,2009

5. A p.C217R mutation in fibulin-5 from cutis laxa patients is associated with incomplete extracellular matrix formation in a skin equivalent model;Claus;J Invest Dermatol,2008

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