| Unbound MEDLINE results for: | Bookmark this site | | Articles related to 18825676 [Unique ID], provided by the PubMed system | |
| |
|
| | 1 - 10 of 103 journal articles in the PubMed database | Email to a friend | | |
| Pace RA, Peat RA, Baker NL, et al.
Collagen VI glycine mutations: perturbed assembly and a spectrum of clinical severity. [Journal Article, Research Support, N.I.H., Extramural, Research Support, Non-U.S. Gov't]
Ann Neurol 2008 Sep; 64(3):294-303.
Abstract | Full Citation | Publisher Full Text | Find Related Articles | | Jimenez-Mallebrera C, Maioli MA, Kim J, et al.
A comparative analysis of collagen VI production in muscle, skin and fibroblasts from 14 Ullrich congenital muscular dystrophy patients with dominant and recessive COL6A mutations. [JOURNAL ARTICLE]
Neuromuscul Disord 2006 Aug 25.
Abstract | Full Citation | Publisher Full Text | Find Related Articles | | Baker NL, Mörgelin M, Pace RA, et al.
Molecular consequences of dominant Bethlem myopathy collagen VI mutations. [JOURNAL ARTICLE]
Ann Neurol 2007 Sep 20.
Abstract | Full Citation | Publisher Full Text | Find Related Articles | | Lamandé SR, Mörgelin M, Selan C, et al.
Kinked collagen VI tetramers and reduced microfibril formation as a result of Bethlem myopathy and introduced triple helical glycine mutations. [Journal Article, Research Support, Non-U.S. Gov't ]
J Biol Chem 2002 Jan 18; 277(3):1949-56.
Abstract | Full Citation | Publisher Full Text | Find Related Articles | | Zhang RZ, Sabatelli P, Pan TC, et al.
Effects on collagen VI mRNA stability and microfibrillar assembly of three COL6A2 mutations in two families with Ullrich congenital muscular dystrophy. [Journal Article, Research Support, Non-U.S. Gov't , Research Support, U.S. Gov't, P.H.S. ]
J Biol Chem 2002 Nov 15; 277(46):43557-64.
Abstract | Full Citation | Publisher Full Text | Find Related Articles | | Baker NL, Mörgelin M, Peat R, et al.
Dominant collagen VI mutations are a common cause of Ullrich congenital muscular dystrophy. [Journal Article]
Hum Mol Genet 2005 Jan 15; 14(2):279-93.
Abstract | Full Citation | Publisher Full Text | Find Related Articles | | Pan TC, Zhang RZ, Sudano DG, et al.
New molecular mechanism for Ullrich congenital muscular dystrophy: a heterozygous in-frame deletion in the COL6A1 gene causes a severe phenotype. [Case Reports, Journal Article]
Am J Hum Genet 2003 Aug; 73(2):355-69.
Abstract | Full Citation | Publisher Full Text | Find Related Articles | | Merlini L, Martoni E, Grumati P, et al.
Autosomal recessive myosclerosis myopathy is a collagen VI disorder. [Journal Article, Research Support, Non-U.S. Gov't]
Neurology 2008 Oct 14; 71(16):1245-53.
Abstract | Full Citation | Publisher Full Text | Find Related Articles | | Lampe AK, Zou Y, Sudano D, et al.
Exon skipping mutations in collagen VI are common and are predictive for severity and inheritance. [JOURNAL ARTICLE]
Hum Mutat 2008 Mar 25.
Abstract | Full Citation | Find Related Articles |   |
|
| |
Advertise on this site.
|
