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Items: 1 to 20 of 162

1.

Drosophila indirect flight muscle specific Act88F actin mutants as a model system for studying congenital myopathies of the human ACTA1 skeletal muscle actin gene.

Haigh SE, Salvi SS, Sevdali M, Stark M, Goulding D, Clayton JD, Bullard B, Sparrow JC, Nongthomba U.

Neuromuscul Disord. 2010 Jun;20(6):363-74. doi: 10.1016/j.nmd.2010.03.008. Epub 2010 May 7.

PMID:
20452215
2.

Human congenital myopathy actin mutants cause myopathy and alter Z-disc structure in Drosophila flight muscle.

Sevdali M, Kumar V, Peckham M, Sparrow J.

Neuromuscul Disord. 2013 Mar;23(3):243-55. doi: 10.1016/j.nmd.2012.11.013. Epub 2013 Jan 5.

PMID:
23294764
3.

Muscle disease caused by mutations in the skeletal muscle alpha-actin gene (ACTA1).

Sparrow JC, Nowak KJ, Durling HJ, Beggs AH, Wallgren-Pettersson C, Romero N, Nonaka I, Laing NG.

Neuromuscul Disord. 2003 Sep;13(7-8):519-31. Review.

PMID:
12921789
4.

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.

Ann Neurol. 2004 Jul;56(1):86-96.

PMID:
15236405
5.

Myopathy mutations in alpha-skeletal-muscle actin cause a range of molecular defects.

Costa CF, Rommelaere H, Waterschoot D, Sethi KK, Nowak KJ, Laing NG, Ampe C, Machesky LM.

J Cell Sci. 2004 Jul 1;117(Pt 15):3367-77.

6.

Intranuclear rod myopathy: molecular pathogenesis and mechanisms of weakness.

Domazetovska A, Ilkovski B, Kumar V, Valova VA, Vandebrouck A, Hutchinson DO, Robinson PJ, Cooper ST, Sparrow JC, Peckham M, North KN.

Ann Neurol. 2007 Dec;62(6):597-608.

PMID:
17705262
7.

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.

Am J Hum Genet. 2001 Jun;68(6):1333-43. Epub 2001 Apr 27.

8.

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.

Nat Genet. 1999 Oct;23(2):208-12.

PMID:
10508519
9.

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

Schröder JM, Durling H, Laing N.

Acta Neuropathol. 2004 Sep;108(3):250-6. Epub 2004 Jun 24.

PMID:
15221331
10.

Genotype-phenotype correlations in ACTA1 mutations that cause congenital myopathies.

Feng JJ, Marston S.

Neuromuscul Disord. 2009 Jan;19(1):6-16. doi: 10.1016/j.nmd.2008.09.005. Epub 2008 Oct 30. Review.

PMID:
18976909
11.
12.

Substitution of flight muscle-specific actin by human (beta)-cytoplasmic actin in the indirect flight muscle of Drosophila.

Brault V, Reedy MC, Sauder U, Kammerer RA, Aebi U, Schoenenberger C.

J Cell Sci. 1999 Nov;112 ( Pt 21):3627-39.

13.

Evidence for a dominant-negative effect in ACTA1 nemaline myopathy caused by abnormal folding, aggregation and altered polymerization of mutant actin isoforms.

Ilkovski B, Nowak KJ, Domazetovska A, Maxwell AL, Clement S, Davies KE, Laing NG, North KN, Cooper ST.

Hum Mol Genet. 2004 Aug 15;13(16):1727-43. Epub 2004 Jun 15.

PMID:
15198992
14.
15.

The pathogenesis of ACTA1-related congenital fiber type disproportion.

Clarke NF, Ilkovski B, Cooper S, Valova VA, Robinson PJ, Nonaka I, Feng JJ, Marston S, North K.

Ann Neurol. 2007 Jun;61(6):552-61.

PMID:
17387733
16.

Functional and ultrastructural effects of a missense mutation in the indirect flight muscle-specific actin gene of Drosophila melanogaster.

Sparrow J, Reedy M, Ball E, Kyrtatas V, Molloy J, Durston J, Hennessey E, White D.

J Mol Biol. 1991 Dec 20;222(4):963-82.

PMID:
1684824
17.
18.

Defining alpha-skeletal and alpha-cardiac actin expression in human heart and skeletal muscle explains the absence of cardiac involvement in ACTA1 nemaline myopathy.

Ilkovski B, Clement S, Sewry C, North KN, Cooper ST.

Neuromuscul Disord. 2005 Dec;15(12):829-35. Epub 2005 Nov 8.

PMID:
16288873
19.

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.

Neuromuscul Disord. 2004 Sep;14(8-9):471-5.

PMID:
15336687
20.

Congenital myopathies: diseases of the actin cytoskeleton.

Clarkson E, Costa CF, Machesky LM.

J Pathol. 2004 Nov;204(4):407-17. Review.

PMID:
15495263

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