Similar articles for PMID: 19553116

Year	Number of Results
1957	1
1958	1
1985	2
1987	1
1990	1
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1994	3
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1998	4
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2000	2
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2002	6
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2007	32
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2013	18
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2016	9
2017	8
2018	12
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2020	6
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2023	2
2024	0

1

Severe nemaline myopathy associated with consecutive mutations E74D and H75Y on a single ACTA1 allele.

Garcia-Angarita N, Kirschner J, Heiliger M, Thirion C, Walter MC, Schnittfeld-Acarlioglu S, Albrecht M, Müller K, Wieczorek D, Lochmüller H, Krause S. Garcia-Angarita N, et al. Neuromuscul Disord. 2009 Jul;19(7):481-4. doi: 10.1016/j.nmd.2009.05.001. Epub 2009 Jun 23. Neuromuscul Disord. 2009. PMID: 19553116

2

Severe nemaline myopathy caused by mutations of the stop codon of the skeletal muscle alpha actin gene (ACTA1).

Wallefeld W, Krause S, Nowak KJ, Dye D, Horváth R, Molnár Z, Szabó M, Hashimoto K, Reina C, De Carlos J, Rosell J, Cabello A, Navarro C, Nishino I, Lochmüller H, Laing NG. Wallefeld W, et al. Neuromuscul Disord. 2006 Oct;16(9-10):541-7. doi: 10.1016/j.nmd.2006.07.018. Epub 2006 Sep 1. Neuromuscul Disord. 2006. PMID: 16945536

3

Fatal hypertrophic cardiomyopathy and nemaline myopathy associated with ACTA1 K336E mutation.

D'Amico A, Graziano C, Pacileo G, Petrini S, Nowak KJ, Boldrini R, Jacques A, Feng JJ, Porfirio B, Sewry CA, Santorelli FM, Limongelli G, Bertini E, Laing N, Marston SB. D'Amico A, et al. Neuromuscul Disord. 2006 Oct;16(9-10):548-52. doi: 10.1016/j.nmd.2006.07.005. Epub 2006 Sep 1. Neuromuscul Disord. 2006. PMID: 16945537

4

Follow-up of nemaline myopathy in two patients with novel mutations in the skeletal muscle alpha-actin gene (ACTA1).

Ohlsson M, Tajsharghi H, Darin N, Kyllerman M, Oldfors A. Ohlsson M, et al. Neuromuscul Disord. 2004 Sep;14(8-9):471-5. doi: 10.1016/j.nmd.2004.05.016. Neuromuscul Disord. 2004. PMID: 15336687

5

Actin myopathy with nemaline bodies, intranuclear rods, and a heterozygous mutation in ACTA1 (Asp154Asn).

Schröder JM, Durling H, Laing N. Schröder JM, et al. Acta Neuropathol. 2004 Sep;108(3):250-6. doi: 10.1007/s00401-004-0888-1. Epub 2004 Jun 24. Acta Neuropathol. 2004. PMID: 15221331

6

Heterogeneity of nemaline myopathy cases with skeletal muscle alpha-actin gene mutations.

Agrawal PB, Strickland CD, Midgett C, Morales A, Newburger DE, Poulos MA, Tomczak KK, Ryan MM, Iannaccone ST, Crawford TO, Laing NG, Beggs AH. Agrawal PB, et al. Ann Neurol. 2004 Jul;56(1):86-96. doi: 10.1002/ana.20157. Ann Neurol. 2004. PMID: 15236405

7

Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy.

Nowak KJ, Wattanasirichaigoon D, Goebel HH, Wilce M, Pelin K, Donner K, Jacob RL, Hübner C, Oexle K, Anderson JR, Verity CM, North KN, Iannaccone ST, Müller CR, Nürnberg P, Muntoni F, Sewry C, Hughes I, Sutphen R, Lacson AG, Swoboda KJ, Vigneron J, Wallgren-Pettersson C, Beggs AH, Laing NG. Nowak KJ, et al. Nat Genet. 1999 Oct;23(2):208-12. doi: 10.1038/13837. Nat Genet. 1999. PMID: 10508519

8

Nemaline myopathy with exclusively intranuclear rods and a novel mutation in ACTA1 (Q139H).

Koy A, Ilkovski B, Laing N, North K, Weis J, Neuen-Jacob E, Mayatepek E, Voit T. Koy A, et al. Neuropediatrics. 2007 Dec;38(6):282-6. doi: 10.1055/s-2008-1065356. Neuropediatrics. 2007. PMID: 18461503

9

Nemaline (actin) myopathy with myofibrillar dysgenesis and abnormal ossification.

Arai A, Mitsuhashi S, Saito Y, Komaki H, Sakuma H, Nakagawa E, Sugai K, Sasaki M, Robertson SP, Nishimura G, Yamamoto T, Nonaka I, Nishino I. Arai A, et al. Neuromuscul Disord. 2009 Jul;19(7):485-8. doi: 10.1016/j.nmd.2009.06.366. Epub 2009 Jun 23. Neuromuscul Disord. 2009. PMID: 19553121

10

A novel ACTA1 mutation resulting in a severe congenital myopathy with nemaline bodies, intranuclear rods and type I fibre predominance.

Ravenscroft G, Wilmshurst JM, Pillay K, Sivadorai P, Wallefeld W, Nowak KJ, Laing NG. Ravenscroft G, et al. Neuromuscul Disord. 2011 Jan;21(1):31-6. doi: 10.1016/j.nmd.2010.08.005. Epub 2010 Sep 17. Neuromuscul Disord. 2011. PMID: 20850316

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