Similar articles for PMID: 22560515

Year	Number of Results
1999	3
2000	2
2001	7
2002	1
2003	1
2004	7
2005	1
2006	4
2007	6
2008	1
2009	7
2010	2
2011	8
2012	6
2013	4
2014	6
2015	8
2016	6
2017	6
2018	5
2019	7
2020	5
2021	3
2022	3
2023	2
2024	0

1

Congenital myopathy caused by a novel missense mutation in the CFL2 gene.

Ockeloen CW, Gilhuis HJ, Pfundt R, Kamsteeg EJ, Agrawal PB, Beggs AH, Dara Hama-Amin A, Diekstra A, Knoers NV, Lammens M, van Alfen N. Ockeloen CW, et al. Neuromuscul Disord. 2012 Jul;22(7):632-9. doi: 10.1016/j.nmd.2012.03.008. Epub 2012 May 4. Neuromuscul Disord. 2012. PMID: 22560515 Free PMC article.

2

Expanding the histopathological spectrum of CFL2-related myopathies.

Fattori F, Fiorillo C, Rodolico C, Tasca G, Verardo M, Bellacchio E, Pizzi S, Ciolfi A, Fagiolari G, Lupica A, Broda P, Pedemonte M, Moggio M, Bruno C, Tartaglia M, Bertini E, D'Amico A. Fattori F, et al. Clin Genet. 2018 Jun;93(6):1234-1239. doi: 10.1111/cge.13240. Epub 2018 Mar 25. Clin Genet. 2018. PMID: 29457652

3

Nemaline myopathy with minicores caused by mutation of the CFL2 gene encoding the skeletal muscle actin-binding protein, cofilin-2.

Agrawal PB, Greenleaf RS, Tomczak KK, Lehtokari VL, Wallgren-Pettersson C, Wallefeld W, Laing NG, Darras BT, Maciver SK, Dormitzer PR, Beggs AH. Agrawal PB, et al. Am J Hum Genet. 2007 Jan;80(1):162-7. doi: 10.1086/510402. Epub 2006 Nov 14. Am J Hum Genet. 2007. PMID: 17160903 Free PMC article.

4

Knockin mouse model of the human CFL2 p.A35T mutation results in a unique splicing defect and severe myopathy phenotype.

Rosen SM, Joshi M, Hitt T, Beggs AH, Agrawal PB. Rosen SM, et al. Hum Mol Genet. 2020 Jul 29;29(12):1996-2003. doi: 10.1093/hmg/ddaa035. Hum Mol Genet. 2020. PMID: 32160286 Free PMC article.

5

Nemaline myopathy caused by mutations in the muscle alpha-skeletal-actin gene.

Ilkovski B, Cooper ST, Nowak K, Ryan MM, Yang N, Schnell C, Durling HJ, Roddick LG, Wilkinson I, Kornberg AJ, Collins KJ, Wallace G, Gunning P, Hardeman EC, Laing NG, North KN. Ilkovski B, et al. Am J Hum Genet. 2001 Jun;68(6):1333-43. doi: 10.1086/320605. Epub 2001 Apr 27. Am J Hum Genet. 2001. PMID: 11333380 Free PMC article.

6

Mild phenotype of nemaline myopathy with sleep hypoventilation due to a mutation in the skeletal muscle alpha-actin (ACTA1) gene.

Jungbluth H, Sewry CA, Brown SC, Nowak KJ, Laing NG, Wallgren-Pettersson C, Pelin K, Manzur AY, Mercuri E, Dubowitz V, Muntoni F. Jungbluth H, et al. Neuromuscul Disord. 2001 Jan;11(1):35-40. doi: 10.1016/s0960-8966(00)00167-x. Neuromuscul Disord. 2001. PMID: 11166164

7

Recessive DES cardio/myopathy without myofibrillar aggregates: intronic splice variant silences one allele leaving only missense L190P-desmin.

Riley LG, Waddell LB, Ghaoui R, Evesson FJ, Cummings BB, Bryen SJ, Joshi H, Wang MX, Brammah S, Kritharides L, Corbett A, MacArthur DG, Cooper ST. Riley LG, et al. Eur J Hum Genet. 2019 Aug;27(8):1267-1273. doi: 10.1038/s41431-019-0393-6. Epub 2019 Apr 25. Eur J Hum Genet. 2019. PMID: 31024060 Free PMC article.

8

Normal myofibrillar development followed by progressive sarcomeric disruption with actin accumulations in a mouse Cfl2 knockout demonstrates requirement of cofilin-2 for muscle maintenance.

Agrawal PB, Joshi M, Savic T, Chen Z, Beggs AH. Agrawal PB, et al. Hum Mol Genet. 2012 May 15;21(10):2341-56. doi: 10.1093/hmg/dds053. Epub 2012 Feb 17. Hum Mol Genet. 2012. PMID: 22343409 Free PMC article.

9

Mihaylova V, Chablais F, Bremer J, Guggenberger R, Rushing EJ, Bethge T, Spiegel R, Jung HH. Mihaylova V, et al. J Clin Neuromuscul Dis. 2021 Mar 1;22(3):173-179. doi: 10.1097/CND.0000000000000320. J Clin Neuromuscul Dis. 2021. PMID: 33596003 Free article.

10

Actin-related myopathy without any missense mutation in the ACTA1 gene.

Goebel HH, Brockmann K, Bönnemann CG, Warlo IA, Hanefeld F, Labeit S, Durling HJ, Laing NG. Goebel HH, et al. J Child Neurol. 2004 Feb;19(2):149-53. doi: 10.1177/08830738040190021201. J Child Neurol. 2004. PMID: 15072110

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