Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 146

1.

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
2.

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
3.

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.

4.

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
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.

Defective collagen VI α6 chain expression in the skeletal muscle of patients with collagen VI-related myopathies.

Tagliavini F, Pellegrini C, Sardone F, Squarzoni S, Paulsson M, Wagener R, Gualandi F, Trabanelli C, Ferlini A, Merlini L, Santi S, Maraldi NM, Faldini C, Sabatelli P.

Biochim Biophys Acta. 2014 Sep;1842(9):1604-12. doi: 10.1016/j.bbadis.2014.05.033. Epub 2014 Jun 5.

7.

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
8.

Expression of collagen VI α5 and α6 chains in human muscle and in Duchenne muscular dystrophy-related muscle fibrosis.

Sabatelli P, Gualandi F, Gara SK, Grumati P, Zamparelli A, Martoni E, Pellegrini C, Merlini L, Ferlini A, Bonaldo P, Maraldi NM, Paulsson M, Squarzoni S, Wagener R.

Matrix Biol. 2012 Apr;31(3):187-96. doi: 10.1016/j.matbio.2011.12.003. Epub 2011 Dec 30.

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.

Collagen VI microfibril formation is abolished by an {alpha}2(VI) von Willebrand factor type A domain mutation in a patient with Ullrich congenital muscular dystrophy.

Tooley LD, Zamurs LK, Beecher N, Baker NL, Peat RA, Adams NE, Bateman JF, North KN, Baldock C, Lamandé SR.

J Biol Chem. 2010 Oct 22;285(43):33567-76. doi: 10.1074/jbc.M110.152520. Epub 2010 Aug 21.

11.

A refined diagnostic algorithm for Bethlem myopathy.

Hicks D, Lampe AK, Barresi R, Charlton R, Fiorillo C, Bonnemann CG, Hudson J, Sutton R, Lochmüller H, Straub V, Bushby K.

Neurology. 2008 Apr 1;70(14):1192-9. doi: 10.1212/01.wnl.0000307749.66438.6d.

PMID:
18378883
12.

"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.

13.

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
14.

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.

15.

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
16.

[Collagen VI-related muscle disorders].

Higuchi I.

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

PMID:
22068469
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.

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
19.

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

Higuchi I.

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

PMID:
16447767
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.

Supplemental Content

Support Center