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Results: 1 to 20 of 271

Similar articles for PubMed (Select 17886299)

1.

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
2.

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.

3.

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.

4.

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.

5.

Collagen VI glycine mutations: perturbed assembly and a spectrum of clinical severity.

Pace RA, Peat RA, Baker NL, Zamurs L, Mörgelin M, Irving M, Adams NE, Bateman JF, Mowat D, Smith NJ, Lamont PJ, Moore SA, Mathews KD, North KN, Lamandé SR.

Ann Neurol. 2008 Sep;64(3):294-303. doi: 10.1002/ana.21439.

6.

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
7.

Detection of common and private mutations in the COL6A1 gene of patients with Bethlem myopathy.

Lucioli S, Giusti B, Mercuri E, Vanegas OC, Lucarini L, Pietroni V, Urtizberea A, Ben Yaou R, de Visser M, van der Kooi AJ, Bönnemann C, Iannaccone ST, Merlini L, Bushby K, Muntoni F, Bertini E, Chu ML, Pepe G.

Neurology. 2005 Jun 14;64(11):1931-7.

PMID:
15955946
8.

Autosomal recessive Bethlem myopathy.

Gualandi F, Urciuolo A, Martoni E, Sabatelli P, Squarzoni S, Bovolenta M, Messina S, Mercuri E, Franchella A, Ferlini A, Bonaldo P, Merlini L.

Neurology. 2009 Dec 1;73(22):1883-91. doi: 10.1212/WNL.0b013e3181c3fd2a.

PMID:
19949035
9.

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.

10.

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

Higuchi I.

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

PMID:
16447767
11.

Type VI collagen mutations in Bethlem myopathy, an autosomal dominant myopathy with contractures.

Jöbsis GJ, Keizers H, Vreijling JP, de Visser M, Speer MC, Wolterman RA, Baas F, Bolhuis PA.

Nat Genet. 1996 Sep;14(1):113-5.

PMID:
8782832
12.

Novel COL6A1 splicing mutation in a family affected by mild Bethlem myopathy.

Vanegas OC, Zhang RZ, Sabatelli P, Lattanzi G, Bencivenga P, Giusti B, Columbaro M, Chu ML, Merlini L, Pepe G.

Muscle Nerve. 2002 Apr;25(4):513-9.

PMID:
11932968
13.

A heterozygous splice site mutation in COL6A1 leading to an in-frame deletion of the alpha1(VI) collagen chain in an italian family affected by bethlem myopathy.

Pepe G, Giusti B, Bertini E, Brunelli T, Saitta B, Comeglio P, Bolognese A, Merlini L, Federici G, Abbate R, Chu ML.

Biochem Biophys Res Commun. 1999 May 19;258(3):802-7.

PMID:
10329467
14.

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.

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.

Missense mutation in a von Willebrand factor type A domain of the alpha 3(VI) collagen gene (COL6A3) in a family with Bethlem myopathy.

Pan TC, Zhang RZ, Pericak-Vance MA, Tandan R, Fries T, Stajich JM, Viles K, Vance JM, Chu ML, Speer MC.

Hum Mol Genet. 1998 May;7(5):807-12.

17.

[Collagen VI-related muscle disorders].

Higuchi I.

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

PMID:
22068469
18.

A mouse model for dominant collagen VI disorders: heterozygous deletion of Col6a3 Exon 16.

Pan TC, Zhang RZ, Arita M, Bogdanovich S, Adams SM, Gara SK, Wagener R, Khurana TS, Birk DE, Chu ML.

J Biol Chem. 2014 Apr 11;289(15):10293-307. doi: 10.1074/jbc.M114.549311. Epub 2014 Feb 22.

19.

Autosomal recessive myosclerosis myopathy is a collagen VI disorder.

Merlini L, Martoni E, Grumati P, Sabatelli P, Squarzoni S, Urciuolo A, Ferlini A, Gualandi F, Bonaldo P.

Neurology. 2008 Oct 14;71(16):1245-53. doi: 10.1212/01.wnl.0000327611.01687.5e.

PMID:
18852439
20.

Autosomal recessive inheritance of classic Bethlem myopathy.

Foley AR, Hu Y, Zou Y, Columbus A, Shoffner J, Dunn DM, Weiss RB, Bönnemann CG.

Neuromuscul Disord. 2009 Dec;19(12):813-7. doi: 10.1016/j.nmd.2009.09.010. Epub 2009 Nov 1.

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