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Items: 1 to 20 of 291

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.

PMID:
15563506
2.

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.

3.

[Collagen VI-related muscle disorders].

Higuchi I.

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

PMID:
22068469
4.

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
5.

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
6.

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.

7.

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
8.

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
9.

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

Higuchi I.

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

PMID:
16447767
10.

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.

11.

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.

12.

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
13.

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
14.

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
15.

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
16.

Ullrich congenital muscular dystrophy and Bethlem myopathy: clinical and genetic heterogeneity.

Reed UC, Ferreira LG, Liu EC, Resende MB, Carvalho MS, Marie SK, Scaff M.

Arq Neuropsiquiatr. 2005 Sep;63(3B):785-90. Epub 2005 Oct 18.

17.

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.

18.

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.

19.

Reduced cell anchorage may cause sarcolemma-specific collagen VI deficiency in Ullrich disease.

Kawahara G, Okada M, Morone N, Ibarra CA, Nonaka I, Noguchi S, Hayashi YK, Nishino I.

Neurology. 2007 Sep 4;69(10):1043-9.

PMID:
17785674
20.

Kinked collagen VI tetramers and reduced microfibril formation as a result of Bethlem myopathy and introduced triple helical glycine mutations.

Lamandé SR, Mörgelin M, Selan C, Jöbsis GJ, Baas F, Bateman JF.

J Biol Chem. 2002 Jan 18;277(3):1949-56. Epub 2001 Nov 13.

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