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Results: 6

1.

Mutations and polymorphisms of the skeletal muscle alpha-actin gene (ACTA1).

Laing NG, Dye DE, Wallgren-Pettersson C, Richard G, Monnier N, Lillis S, Winder TL, Lochm├╝ller H, Graziano C, Mitrani-Rosenbaum S, Twomey D, Sparrow JC, Beggs AH, Nowak KJ.

Hum Mutat. 2009 Sep;30(9):1267-77. doi: 10.1002/humu.21059.

PMID:
19562689
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

Skeletal muscle alpha-actin diseases.

North KN, Laing NG.

Adv Exp Med Biol. 2008;642:15-27.

PMID:
19181090
[PubMed - indexed for MEDLINE]
3.

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
[PubMed - indexed for MEDLINE]
4.

Thin filament proteins mutations associated with skeletal myopathies: defective regulation of muscle contraction.

Ochala J.

J Mol Med (Berl). 2008 Nov;86(11):1197-204. doi: 10.1007/s00109-008-0380-9. Epub 2008 Jun 24. Review.

PMID:
18574571
[PubMed - indexed for MEDLINE]
5.

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
[PubMed - indexed for MEDLINE]
6.

Congenital myopathies: diseases of the actin cytoskeleton.

Clarkson E, Costa CF, Machesky LM.

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

PMID:
15495263
[PubMed - indexed for MEDLINE]

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