Mitchell CA - Search Results

1

Clinical, histological and genetic characterization of reducing body myopathy caused by mutations in FHL1.

Schessl J, Taratuto AL, Sewry C, Battini R, Chin SS, Maiti B, Dubrovsky AL, Erro MG, Espada G, Robertella M, Saccoliti M, Olmos P, Bridges LR, Standring P, Hu Y, Zou Y, Swoboda KJ, Scavina M, Goebel HH, Mitchell CA, Flanigan KM, Muntoni F, Bönnemann CG. Schessl J, et al. Among authors: mitchell ca. Brain. 2009 Feb;132(Pt 2):452-64. doi: 10.1093/brain/awn325. Epub 2009 Jan 29. Brain. 2009. PMID: 19181672 Free PMC article.

2

Proteomic identification of FHL1 as the protein mutated in human reducing body myopathy.

Schessl J, Zou Y, McGrath MJ, Cowling BS, Maiti B, Chin SS, Sewry C, Battini R, Hu Y, Cottle DL, Rosenblatt M, Spruce L, Ganguly A, Kirschner J, Judkins AR, Golden JA, Goebel HH, Muntoni F, Flanigan KM, Mitchell CA, Bönnemann CG. Schessl J, et al. Among authors: mitchell ca. J Clin Invest. 2008 Mar;118(3):904-12. doi: 10.1172/JCI34450. J Clin Invest. 2008. PMID: 18274675 Free PMC article.

3

Identification of FHL1 as a regulator of skeletal muscle mass: implications for human myopathy.

Cowling BS, McGrath MJ, Nguyen MA, Cottle DL, Kee AJ, Brown S, Schessl J, Zou Y, Joya J, Bönnemann CG, Hardeman EC, Mitchell CA. Cowling BS, et al. Among authors: mitchell ca. J Cell Biol. 2008 Dec 15;183(6):1033-48. doi: 10.1083/jcb.200804077. J Cell Biol. 2008. PMID: 19075112 Free PMC article.

4

Hypertrophy and dietary tyrosine ameliorate the phenotypes of a mouse model of severe nemaline myopathy.

Nguyen MA, Joya JE, Kee AJ, Domazetovska A, Yang N, Hook JW, Lemckert FA, Kettle E, Valova VA, Robinson PJ, North KN, Gunning PW, Mitchell CA, Hardeman EC. Nguyen MA, et al. Among authors: mitchell ca. Brain. 2011 Dec;134(Pt 12):3516-29. doi: 10.1093/brain/awr274. Epub 2011 Nov 8. Brain. 2011. PMID: 22067542

5

Four and a half LIM protein 1 gene mutations cause four distinct human myopathies: a comprehensive review of the clinical, histological and pathological features.

Cowling BS, Cottle DL, Wilding BR, D'Arcy CE, Mitchell CA, McGrath MJ. Cowling BS, et al. Among authors: mitchell ca. Neuromuscul Disord. 2011 Apr;21(4):237-51. doi: 10.1016/j.nmd.2011.01.001. Neuromuscul Disord. 2011. PMID: 21310615 Review.

6

FHL1 mutants that cause clinically distinct human myopathies form protein aggregates and impair myoblast differentiation.

Wilding BR, McGrath MJ, Bonne G, Mitchell CA. Wilding BR, et al. Among authors: mitchell ca. J Cell Sci. 2014 May 15;127(Pt 10):2269-81. doi: 10.1242/jcs.140905. Epub 2014 Mar 14. J Cell Sci. 2014. PMID: 24634512

7

Evidence for FHL1 as a novel disease gene for isolated hypertrophic cardiomyopathy.

Friedrich FW, Wilding BR, Reischmann S, Crocini C, Lang P, Charron P, Müller OJ, McGrath MJ, Vollert I, Hansen A, Linke WA, Hengstenberg C, Bonne G, Morner S, Wichter T, Madeira H, Arbustini E, Eschenhagen T, Mitchell CA, Isnard R, Carrier L. Friedrich FW, et al. Among authors: mitchell ca. Hum Mol Genet. 2012 Jul 15;21(14):3237-54. doi: 10.1093/hmg/dds157. Epub 2012 Apr 20. Hum Mol Genet. 2012. PMID: 22523091

8

Identification of FHL1 as a therapeutic target for Duchenne muscular dystrophy.

D'Arcy CE, Feeney SJ, McLean CA, Gehrig SM, Lynch GS, Smith JE, Cowling BS, Mitchell CA, McGrath MJ. D'Arcy CE, et al. Among authors: mitchell ca. Hum Mol Genet. 2014 Feb 1;23(3):618-36. doi: 10.1093/hmg/ddt449. Epub 2013 Sep 18. Hum Mol Genet. 2014. PMID: 24087791

9

SLIMMER (FHL1B/KyoT3) interacts with the proapoptotic protein Siva-1 (CD27BP) and delays skeletal myoblast apoptosis.

Cottle DL, McGrath MJ, Wilding BR, Cowling BS, Kane JM, D'Arcy CE, Holdsworth M, Hatzinisiriou I, Prescott M, Brown S, Mitchell CA. Cottle DL, et al. Among authors: mitchell ca. J Biol Chem. 2009 Sep 25;284(39):26964-77. doi: 10.1074/jbc.M109.036293. Epub 2009 Jul 29. J Biol Chem. 2009. PMID: 19643733 Free PMC article.

10

FHL1 reduces dystrophy in transgenic mice overexpressing FSHD muscular dystrophy region gene 1 (FRG1).

Feeney SJ, McGrath MJ, Sriratana A, Gehrig SM, Lynch GS, D'Arcy CE, Price JT, McLean CA, Tupler R, Mitchell CA. Feeney SJ, et al. Among authors: mitchell ca. PLoS One. 2015 Feb 19;10(2):e0117665. doi: 10.1371/journal.pone.0117665. eCollection 2015. PLoS One. 2015. PMID: 25695429 Free PMC article.

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