Similar articles for PMID: 30895940

Year	Number of Results
1993	1
1994	1
1996	1
1998	1
1999	3
2002	5
2003	3
2004	4
2005	5
2006	3
2007	6
2008	5
2009	4
2010	4
2011	3
2012	1
2013	3
2014	3
2015	6
2016	4
2017	8
2018	7
2019	7
2020	4
2021	9
2022	10
2023	2
2024	0

1

A recurrent COL6A1 pseudoexon insertion causes muscular dystrophy and is effectively targeted by splice-correction therapies.

Bolduc V, Foley AR, Solomon-Degefa H, Sarathy A, Donkervoort S, Hu Y, Chen GS, Sizov K, Nalls M, Zhou H, Aguti S, Cummings BB, Lek M, Tukiainen T, Marshall JL, Regev O, Marek-Yagel D, Sarkozy A, Butterfield RJ, Jou C, Jimenez-Mallebrera C, Li Y, Gartioux C, Mamchaoui K, Allamand V, Gualandi F, Ferlini A, Hanssen E; COL6A1 Intron 11 Study Group; Wilton SD, Lamandé SR, MacArthur DG, Wagener R, Muntoni F, Bönnemann CG. Bolduc V, et al. JCI Insight. 2019 Mar 21;4(6):e124403. doi: 10.1172/jci.insight.124403. eCollection 2019 Mar 21. JCI Insight. 2019. PMID: 30895940 Free PMC article.

2

Identification and characterization of novel collagen VI non-canonical splicing mutations causing Ullrich congenital muscular dystrophy.

Martoni E, Urciuolo A, Sabatelli P, Fabris M, Bovolenta M, Neri M, Grumati P, D'Amico A, Pane M, Mercuri E, Bertini E, Merlini L, Bonaldo P, Ferlini A, Gualandi F. Martoni E, et al. Hum Mutat. 2009 May;30(5):E662-72. doi: 10.1002/humu.21022. Hum Mutat. 2009. PMID: 19309692

3

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. Lampe AK, et al. Hum Mutat. 2008 Jun;29(6):809-22. doi: 10.1002/humu.20704. Hum Mutat. 2008. PMID: 18366090

4

DMD pseudoexon mutations: splicing efficiency, phenotype, and potential therapy.

Gurvich OL, Tuohy TM, Howard MT, Finkel RS, Medne L, Anderson CB, Weiss RB, Wilton SD, Flanigan KM. Gurvich OL, et al. Ann Neurol. 2008 Jan;63(1):81-9. doi: 10.1002/ana.21290. Ann Neurol. 2008. PMID: 18059005

5

Transcriptome profiling identifies regulators of pathogenesis in collagen VI related muscular dystrophy.

Butterfield RJ, Dunn DM, Hu Y, Johnson K, Bönnemann CG, Weiss RB. Butterfield RJ, et al. PLoS One. 2017 Dec 15;12(12):e0189664. doi: 10.1371/journal.pone.0189664. eCollection 2017. PLoS One. 2017. PMID: 29244830 Free PMC article.

6

Exon-Skipping for a Pathogenic COL6A1 Variant in Ullrich Congenital Muscular Dystrophy.

Aguti S, Guirguis F, Bönnemann C, Muntoni F, Bolduc V, Zhou H. Aguti S, et al. Methods Mol Biol. 2023;2587:387-407. doi: 10.1007/978-1-0716-2772-3_20. Methods Mol Biol. 2023. PMID: 36401040

7

A comparative analysis of collagen VI production in muscle, skin and fibroblasts from 14 Ullrich congenital muscular dystrophy patients with dominant and recessive COL6A mutations.

Jimenez-Mallebrera C, Maioli MA, Kim J, Brown SC, Feng L, Lampe AK, Bushby K, Hicks D, Flanigan KM, Bonnemann C, Sewry CA, Muntoni F. Jimenez-Mallebrera C, et al. Neuromuscul Disord. 2006 Oct;16(9-10):571-82. doi: 10.1016/j.nmd.2006.07.015. Epub 2006 Aug 28. Neuromuscul Disord. 2006. PMID: 16935502

8

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. Pace RA, et al. Ann Neurol. 2008 Sep;64(3):294-303. doi: 10.1002/ana.21439. Ann Neurol. 2008. PMID: 18825676 Free PMC article.

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. Pan TC, et al. Am J Hum Genet. 2003 Aug;73(2):355-69. doi: 10.1086/377107. Epub 2003 Jul 1. Am J Hum Genet. 2003. PMID: 12840783 Free PMC article.

10

A homozygous COL6A2 intron mutation causes in-frame triple-helical deletion and nonsense-mediated mRNA decay in a patient with Ullrich congenital muscular dystrophy.

Lucarini L, Giusti B, Zhang RZ, Pan TC, Jimenez-Mallebrera C, Mercuri E, Muntoni F, Pepe G, Chu ML. Lucarini L, et al. Hum Genet. 2005 Sep;117(5):460-6. doi: 10.1007/s00439-005-1318-8. Epub 2005 Jun 17. Hum Genet. 2005. PMID: 16075202

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