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Items: 1 to 20 of 115

1.

The collagen VI-related myopathies: muscle meets its matrix.

Bönnemann CG.

Nat Rev Neurol. 2011 Jun 21;7(7):379-90. doi: 10.1038/nrneurol.2011.81. Review.

2.

Collagen type VI myopathies.

Bushby KM, Collins J, Hicks D.

Adv Exp Med Biol. 2014;802:185-99. doi: 10.1007/978-94-007-7893-1_12. Review.

PMID:
24443028
3.

Collagen Type VI-Related Disorders.

Lampe AK, Flanigan KM, Bushby KM, Hicks D.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
2004 Jun 25 [updated 2012 Aug 9].

4.

Natural history of pulmonary function in collagen VI-related myopathies.

Foley AR, Quijano-Roy S, Collins J, Straub V, McCallum M, Deconinck N, Mercuri E, Pane M, D'Amico A, Bertini E, North K, Ryan MM, Richard P, Allamand V, Hicks D, Lamandé S, Hu Y, Gualandi F, Auh S, Muntoni F, Bönnemann CG.

Brain. 2013 Dec;136(Pt 12):3625-33. doi: 10.1093/brain/awt284.

5.

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.

6.

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

Higuchi I.

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

PMID:
16447767
7.

[Collagen VI-related muscle disorders].

Higuchi I.

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

PMID:
22068469
8.

The collagen VI-related myopathies Ullrich congenital muscular dystrophy and Bethlem myopathy.

Bönnemann CG.

Handb Clin Neurol. 2011;101:81-96. doi: 10.1016/B978-0-08-045031-5.00005-0. Review.

9.

Collagen VI related muscle disorders.

Lampe AK, Bushby KM.

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

10.

COL6A3 protein deficiency in mice leads to muscle and tendon defects similar to human collagen VI congenital muscular dystrophy.

Pan TC, Zhang RZ, Markova D, Arita M, Zhang Y, Bogdanovich S, Khurana TS, Bönnemann CG, Birk DE, Chu ML.

J Biol Chem. 2013 May 17;288(20):14320-31. doi: 10.1074/jbc.M112.433078.

11.

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.

PMID:
15563506
12.

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
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.
15.

Position of glycine substitutions in the triple helix of COL6A1, COL6A2, and COL6A3 is correlated with severity and mode of inheritance in collagen VI myopathies.

Butterfield RJ, Foley AR, Dastgir J, Asman S, Dunn DM, Zou Y, Hu Y, Donkervoort S, Flanigan KM, Swoboda KJ, Winder TL, Weiss RB, Bönnemann CG.

Hum Mutat. 2013 Nov;34(11):1558-67. doi: 10.1002/humu.22429.

16.

"Target" and "Sandwich" Signs in Thigh Muscles have High Diagnostic Values for Collagen VI-related Myopathies.

Fu J, Zheng YM, Jin SQ, Yi JF, Liu XJ, Lyn H, Wang ZX, Zhang W, Xiao JX, Yuan Y.

Chin Med J (Engl). 2016 Aug 5;129(15):1811-6. doi: 10.4103/0366-6999.186638.

17.

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.

18.

Muscle MRI in Ullrich congenital muscular dystrophy and Bethlem myopathy.

Mercuri E, Lampe A, Allsop J, Knight R, Pane M, Kinali M, Bonnemann C, Flanigan K, Lapini I, Bushby K, Pepe G, Muntoni F.

Neuromuscul Disord. 2005 Apr;15(4):303-10.

PMID:
15792870
19.

Differentiating Emery-Dreifuss muscular dystrophy and collagen VI-related myopathies using a specific CT scanner pattern.

Deconinck N, Dion E, Ben Yaou R, Ferreiro A, Eymard B, Briñas L, Payan C, Voit T, Guicheney P, Richard P, Allamand V, Bonne G, Stojkovic T.

Neuromuscul Disord. 2010 Aug;20(8):517-23. doi: 10.1016/j.nmd.2010.04.009.

PMID:
20576434
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.

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