Similar articles for PMID: 24334769

Year	Number of Results
1996	1
1997	1
1998	1
1999	3
2001	2
2002	6
2003	1
2004	2
2005	5
2006	2
2007	2
2008	5
2009	3
2010	5
2011	6
2012	6
2013	6
2014	11
2015	4
2016	3
2017	7
2018	5
2019	7
2020	8
2021	10
2022	7
2023	8
2024	0

1

Mutations in the collagen XII gene define a new form of extracellular matrix-related myopathy.

Hicks D, Farsani GT, Laval S, Collins J, Sarkozy A, Martoni E, Shah A, Zou Y, Koch M, Bönnemann CG, Roberts M, Lochmüller H, Bushby K, Straub V. Hicks D, et al. Hum Mol Genet. 2014 May 1;23(9):2353-63. doi: 10.1093/hmg/ddt637. Epub 2013 Dec 13. Hum Mol Genet. 2014. PMID: 24334769

2

Novel defects in collagen XII and VI expand the mixed myopathy/Ehlers-Danlos syndrome spectrum and lead to variant-specific alterations in the extracellular matrix.

Delbaere S, Dhooge T, Syx D, Petit F, Goemans N, Destrée A, Vanakker O, De Rycke R, Symoens S, Malfait F. Delbaere S, et al. Genet Med. 2020 Jan;22(1):112-123. doi: 10.1038/s41436-019-0599-6. Epub 2019 Jul 5. Genet Med. 2020. PMID: 31273343 Free article.

3

Novel Col12A1 variant expands the clinical picture of congenital myopathies with extracellular matrix defects.

Punetha J, Kesari A, Hoffman EP, Gos M, Kamińska A, Kostera-Pruszczyk A, Hausmanowa-Petrusewicz I, Hu Y, Zou Y, Bönnemann CG, JȨdrzejowska M. Punetha J, et al. Muscle Nerve. 2017 Feb;55(2):277-281. doi: 10.1002/mus.25232. Epub 2016 Nov 30. Muscle Nerve. 2017. PMID: 27348394 Free PMC article.

4

Clinical and Molecular Spectrum Associated with COL6A3 c.7447A>G p.(Lys2483Glu) Variant: Elucidating its Role in Collagen VI-related Myopathies.

Villar-Quiles RN, Donkervoort S, de Becdelièvre A, Gartioux C, Jobic V, Foley AR, McCarty RM, Hu Y, Menassa R, Michel L, Gousse G, Lacour A, Petiot P, Streichenberger N, Choumert A, Declerck L, Urtizberea JA, Sole G, Furby A, Cérino M, Krahn M, Campana-Salort E, Ferreiro A, Eymard B, Bönnemann CG, Bharucha-Goebel D, Sumner CJ, Connolly AM, Richard P, Allamand V, Métay C, Stojkovic T. Villar-Quiles RN, et al. J Neuromuscul Dis. 2021;8(4):633-645. doi: 10.3233/JND-200577. J Neuromuscul Dis. 2021. PMID: 33749658

5

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. Butterfield RJ, et al. Hum Mutat. 2013 Nov;34(11):1558-67. doi: 10.1002/humu.22429. Hum Mutat. 2013. PMID: 24038877 Free PMC article.

6

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. Baker NL, et al. Ann Neurol. 2007 Oct;62(4):390-405. doi: 10.1002/ana.21213. Ann Neurol. 2007. PMID: 17886299

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. Lucioli S, et al. Neurology. 2005 Jun 14;64(11):1931-7. doi: 10.1212/01.WNL.0000163990.00057.66. Neurology. 2005. PMID: 15955946

8

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. Lamandé SR, et al. J Biol Chem. 2002 Jan 18;277(3):1949-56. doi: 10.1074/jbc.M109932200. Epub 2001 Nov 13. J Biol Chem. 2002. PMID: 11707460 Free article.

9

Collagens VI and XII form complexes mediating osteoblast interactions during osteogenesis.

Izu Y, Ezura Y, Koch M, Birk DE, Noda M. Izu Y, et al. Cell Tissue Res. 2016 Jun;364(3):623-635. doi: 10.1007/s00441-015-2345-y. Epub 2016 Jan 12. Cell Tissue Res. 2016. PMID: 26753503 Free PMC article.

10

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. Scacheri PC, et al. Neurology. 2002 Feb 26;58(4):593-602. doi: 10.1212/wnl.58.4.593. Neurology. 2002. PMID: 11865138

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