Literature DB >> 11310637

Collagen VI deficiency in Ullrich's disease.

I Higuchi, M Suehara, H Iwaki, M Nakagawa, K Arimura, M Osame.   

Abstract

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Year:  2001        PMID： 11310637

Source DB:  PubMed          Journal:  Ann Neurol        ISSN： 0364-5134            Impact factor:   10.422


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  3 in total

Review 1.  Collagen VI related muscle disorders.

Authors:  A K Lampe; K M D Bushby
Journal:  J Med Genet       Date:  2005-09       Impact factor: 6.318

2.  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

3.  Inhibition of SMG-8, a subunit of SMG-1 kinase, ameliorates nonsense-mediated mRNA decay-exacerbated mutant phenotypes without cytotoxicity.

Authors:  Fusako Usuki; Akio Yamashita; Tadafumi Shiraishi; Atsushi Shiga; Osamu Onodera; Itsuro Higuchi; Shigeo Ohno
Journal:  Proc Natl Acad Sci U S A       Date:  2013-08-27       Impact factor: 11.205
  3 in total

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