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Results: 1 to 20 of 256

Similar articles for PubMed (Select 15563506)

1.

Dominant collagen VI mutations are a common cause of Ullrich congenital muscular dystrophy.

Baker NL, Mörgelin M, Peat R, Goemans N, North KN, Bateman JF, Lamandé SR.

Hum Mol Genet. 2005 Jan 15;14(2):279-93. Epub 2004 Nov 24.

2.

New molecular mechanism for Ullrich congenital muscular dystrophy: a heterozygous in-frame deletion in the COL6A1 gene causes a severe phenotype.

Pan TC, Zhang RZ, Sudano DG, Marie SK, Bönnemann CG, Chu ML.

Am J Hum Genet. 2003 Aug;73(2):355-69. Epub 2003 Jul 1.

3.

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

Demir E, Sabatelli P, Allamand V, Ferreiro A, Moghadaszadeh B, Makrelouf M, Topaloglu H, Echenne B, Merlini L, Guicheney P.

Am J Hum Genet. 2002 Jun;70(6):1446-58. Epub 2002 Apr 24.

4.

Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy.

Lampe AK, Dunn DM, von Niederhausern AC, Hamil C, Aoyagi A, Laval SH, Marie SK, Chu ML, Swoboda K, Muntoni F, Bonnemann CG, Flanigan KM, Bushby KM, Weiss RB.

J Med Genet. 2005 Feb;42(2):108-20.

5.

Exon skipping mutations in collagen VI are common and are predictive for severity and inheritance.

Lampe AK, Zou Y, Sudano D, O'Brien KK, Hicks D, Laval SH, Charlton R, Jimenez-Mallebrera C, Zhang RZ, Finkel RS, Tennekoon G, Schreiber G, van der Knaap MS, Marks H, Straub V, Flanigan KM, Chu ML, Muntoni F, Bushby KM, Bönnemann CG.

Hum Mutat. 2008 Jun;29(6):809-22. doi: 10.1002/humu.20704.

PMID:
18366090
6.

A homozygous COL6A2 intron mutation causes in-frame triple-helical deletion and nonsense-mediated mRNA decay in a patient with Ullrich congenital muscular dystrophy.

Lucarini L, Giusti B, Zhang RZ, Pan TC, Jimenez-Mallebrera C, Mercuri E, Muntoni F, Pepe G, Chu ML.

Hum Genet. 2005 Sep;117(5):460-6. Epub 2005 Jun 17.

PMID:
16075202
7.

[Collagen VI-related muscle disorders].

Higuchi I.

Brain Nerve. 2011 Nov;63(11):1169-78. Review. Japanese.

PMID:
22068469
8.

Collagen VI related muscle disorders.

Lampe AK, Bushby KM.

J Med Genet. 2005 Sep;42(9):673-85. Review.

9.

Molecular consequences of dominant Bethlem myopathy collagen VI mutations.

Baker NL, Mörgelin M, Pace RA, Peat RA, Adams NE, Gardner RJ, Rowland LP, Miller G, De Jonghe P, Ceulemans B, Hannibal MC, Edwards M, Thompson EM, Jacobson R, Quinlivan RC, Aftimos S, Kornberg AJ, North KN, Bateman JF, Lamandé SR.

Ann Neurol. 2007 Oct;62(4):390-405.

PMID:
17886299
10.

Variable penetrance of COL6A1 null mutations: implications for prenatal diagnosis and genetic counselling in Ullrich congenital muscular dystrophy families.

Peat RA, Baker NL, Jones KJ, North KN, Lamandé SR.

Neuromuscul Disord. 2007 Jul;17(7):547-57. Epub 2007 May 29.

PMID:
17537636
11.

Recessive COL6A2 C-globular missense mutations in Ullrich congenital muscular dystrophy: role of the C2a splice variant.

Zhang RZ, Zou Y, Pan TC, Markova D, Fertala A, Hu Y, Squarzoni S, Reed UC, Marie SK, Bönnemann CG, Chu ML.

J Biol Chem. 2010 Mar 26;285(13):10005-15. doi: 10.1074/jbc.M109.093666. Epub 2010 Jan 27.

12.

Effects on collagen VI mRNA stability and microfibrillar assembly of three COL6A2 mutations in two families with Ullrich congenital muscular dystrophy.

Zhang RZ, Sabatelli P, Pan TC, Squarzoni S, Mattioli E, Bertini E, Pepe G, Chu ML.

J Biol Chem. 2002 Nov 15;277(46):43557-64. Epub 2002 Sep 5.

13.

Collagen VI status and clinical severity in Ullrich congenital muscular dystrophy: phenotype analysis of 11 families linked to the COL6 loci.

Demir E, Ferreiro A, Sabatelli P, Allamand V, Makri S, Echenne B, Maraldi M, Merlini L, Topaloglu H, Guicheney P.

Neuropediatrics. 2004 Apr;35(2):103-12.

PMID:
15127309
14.

Primary collagen VI deficiency is the second most common congenital muscular dystrophy in Japan.

Okada M, Kawahara G, Noguchi S, Sugie K, Murayama K, Nonaka I, Hayashi YK, Nishino I.

Neurology. 2007 Sep 4;69(10):1035-42.

PMID:
17785673
15.

[Collagenopathy (Ullrich congenital muscular dystrophy, Bethlem myopathy)].

Higuchi I.

Rinsho Shinkeigaku. 2005 Nov;45(11):935-7. Japanese.

PMID:
16447767
16.

Bethlem myopathy and engineered collagen VI triple helical deletions prevent intracellular multimer assembly and protein secretion.

Lamandé SR, Shields KA, Kornberg AJ, Shield LK, Bateman JF.

J Biol Chem. 1999 Jul 30;274(31):21817-22.

17.

Aberrant mitochondria in a Bethlem myopathy patient with a homozygous amino acid substitution that destabilizes the collagen VI α2(VI) chain.

Zamurs LK, Idoate MA, Hanssen E, Gomez-Ibañez A, Pastor P, Lamandé SR.

J Biol Chem. 2015 Feb 13;290(7):4272-81. doi: 10.1074/jbc.M114.632208. Epub 2014 Dec 22.

PMID:
25533456
18.

Novel mutations in collagen VI genes: expansion of the Bethlem myopathy phenotype.

Scacheri PC, Gillanders EM, Subramony SH, Vedanarayanan V, Crowe CA, Thakore N, Bingler M, Hoffman EP.

Neurology. 2002 Feb 26;58(4):593-602.

PMID:
11865138
19.

Dominant and recessive COL6A1 mutations in Ullrich scleroatonic muscular dystrophy.

Giusti B, Lucarini L, Pietroni V, Lucioli S, Bandinelli B, Sabatelli P, Squarzoni S, Petrini S, Gartioux C, Talim B, Roelens F, Merlini L, Topaloglu H, Bertini E, Guicheney P, Pepe G.

Ann Neurol. 2005 Sep;58(3):400-10.

PMID:
16130093
20.

COL6A1 genomic deletions in Bethlem myopathy and Ullrich muscular dystrophy.

Pepe G, Lucarini L, Zhang RZ, Pan TC, Giusti B, Quijano-Roy S, Gartioux C, Bushby KM, Guicheney P, Chu ML.

Ann Neurol. 2006 Jan;59(1):190-5.

PMID:
16278855
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