Sparrow JC - Search Results

1

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. Sparrow JC, et al. Neuromuscul Disord. 2003 Sep;13(7-8):519-31. doi: 10.1016/s0960-8966(03)00101-9. Neuromuscul Disord. 2003. PMID: 12921789 Review.

2

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, Lochmüller H, Graziano C, Mitrani-Rosenbaum S, Twomey D, Sparrow JC, Beggs AH, Nowak KJ. Laing NG, et al. Among authors: sparrow jc. Hum Mutat. 2009 Sep;30(9):1267-77. doi: 10.1002/humu.21059. Hum Mutat. 2009. PMID: 19562689 Free PMC article.

3

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. Haigh SE, et al. Among authors: sparrow jc. Neuromuscul Disord. 2010 Jun;20(6):363-74. doi: 10.1016/j.nmd.2010.03.008. Epub 2010 May 7. Neuromuscul Disord. 2010. PMID: 20452215

4

Fetal akinesia caused by a novel actin filament aggregate myopathy skeletal muscle actin gene (ACTA1) mutation.

Stenzel W, Prokop S, Kress W, Huppmann S, Loui A, Sarioglu NM, Laing NG, Sparrow JC, Heppner FL, Goebel HH. Stenzel W, et al. Among authors: sparrow jc. Neuromuscul Disord. 2010 Aug;20(8):531-3. doi: 10.1016/j.nmd.2010.06.008. Neuromuscul Disord. 2010. PMID: 20621480

5

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

Sevdali M, Kumar V, Peckham M, Sparrow J. Sevdali M, et al. Neuromuscul Disord. 2013 Mar;23(3):243-55. doi: 10.1016/j.nmd.2012.11.013. Epub 2013 Jan 5. Neuromuscul Disord. 2013. PMID: 23294764

6

Actin mutations are one cause of congenital fibre type disproportion.

Laing NG, Clarke NF, Dye DE, Liyanage K, Walker KR, Kobayashi Y, Shimakawa S, Hagiwara T, Ouvrier R, Sparrow JC, Nishino I, North KN, Nonaka I. Laing NG, et al. Among authors: sparrow jc. Ann Neurol. 2004 Nov;56(5):689-94. doi: 10.1002/ana.20260. Ann Neurol. 2004. PMID: 15468086

7

Nemaline myopathy with stiffness and hypertonia associated with an ACTA1 mutation.

Jain RK, Jayawant S, Squier W, Muntoni F, Sewry CA, Manzur A, Quinlivan R, Lillis S, Jungbluth H, Sparrow JC, Ravenscroft G, Nowak KJ, Memo M, Marston SB, Laing NG. Jain RK, et al. Among authors: sparrow jc. Neurology. 2012 Apr 3;78(14):1100-3. doi: 10.1212/WNL.0b013e31824e8ebe. Epub 2012 Mar 21. Neurology. 2012. PMID: 22442437 No abstract available.

8

Alteration in crossbridge kinetics caused by mutations in actin.

Drummond DR, Peckham M, Sparrow JC, White DC. Drummond DR, et al. Among authors: sparrow jc. Nature. 1990 Nov 29;348(6300):440-2. doi: 10.1038/348440a0. Nature. 1990. PMID: 2123302

9

Transcriptome analysis of IFM-specific actin and myosin nulls in Drosophila melanogaster unravels lesion-specific expression blueprints across muscle mutations.

Madan A, Thimmaiya D, Franco-Cea A, Aiyaz M, Kumar P, Sparrow JC, Nongthomba U. Madan A, et al. Among authors: sparrow jc. Gene. 2017 Oct 5;631:16-28. doi: 10.1016/j.gene.2017.07.061. Epub 2017 Jul 22. Gene. 2017. PMID: 28739398

10

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. Sparrow J, et al. J Mol Biol. 1991 Dec 20;222(4):963-82. doi: 10.1016/0022-2836(91)90588-w. J Mol Biol. 1991. PMID: 1684824

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