McNamara EL - Search Results

1

Systemic AAV8-mediated delivery of a functional copy of muscle glycogen phosphorylase (Pygm) ameliorates disease in a murine model of McArdle disease.

McNamara EL, Taylor RL, Clayton JS, Goullee H, Dilworth KL, Pinós T, Brull A, Alexander IE, Lisowski L, Ravenscroft G, Laing NG, Nowak KJ. McNamara EL, et al. Hum Mol Genet. 2020 Jan 1;29(1):20-30. doi: 10.1093/hmg/ddz214. Hum Mol Genet. 2020. PMID: 31511858

2

Mouse models of dominant ACTA1 disease recapitulate human disease and provide insight into therapies.

Ravenscroft G, Jackaman C, Bringans S, Papadimitriou JM, Griffiths LM, McNamara E, Bakker AJ, Davies KE, Laing NG, Nowak KJ. Ravenscroft G, et al. Brain. 2011 Apr;134(Pt 4):1101-15. doi: 10.1093/brain/awr004. Epub 2011 Feb 8. Brain. 2011. PMID: 21303860

3

Actin nemaline myopathy mouse reproduces disease, suggests other actin disease phenotypes and provides cautionary note on muscle transgene expression.

Ravenscroft G, Jackaman C, Sewry CA, McNamara E, Squire SE, Potter AC, Papadimitriou J, Griffiths LM, Bakker AJ, Davies KE, Laing NG, Nowak KJ. Ravenscroft G, et al. PLoS One. 2011;6(12):e28699. doi: 10.1371/journal.pone.0028699. Epub 2011 Dec 9. PLoS One. 2011. PMID: 22174871 Free PMC article.

4

K7del is a common TPM2 gene mutation associated with nemaline myopathy and raised myofibre calcium sensitivity.

Mokbel N, Ilkovski B, Kreissl M, Memo M, Jeffries CM, Marttila M, Lehtokari VL, Lemola E, Grönholm M, Yang N, Menard D, Marcorelles P, Echaniz-Laguna A, Reimann J, Vainzof M, Monnier N, Ravenscroft G, McNamara E, Nowak KJ, Laing NG, Wallgren-Pettersson C, Trewhella J, Marston S, Ottenheijm C, North KN, Clarke NF. Mokbel N, et al. Brain. 2013 Feb;136(Pt 2):494-507. doi: 10.1093/brain/aws348. Epub 2013 Jan 31. Brain. 2013. PMID: 23378224 Free article.

5

Familial dilated cardiomyopathy mutations uncouple troponin I phosphorylation from changes in myofibrillar Ca²⁺ sensitivity.

Memo M, Leung MC, Ward DG, dos Remedios C, Morimoto S, Zhang L, Ravenscroft G, McNamara E, Nowak KJ, Marston SB, Messer AE. Memo M, et al. Cardiovasc Res. 2013 Jul 1;99(1):65-73. doi: 10.1093/cvr/cvt071. Epub 2013 Mar 27. Cardiovasc Res. 2013. PMID: 23539503

6

Cardiac α-actin over-expression therapy in dominant ACTA1 disease.

Ravenscroft G, McNamara E, Griffiths LM, Papadimitriou JM, Hardeman EC, Bakker AJ, Davies KE, Laing NG, Nowak KJ. Ravenscroft G, et al. Hum Mol Genet. 2013 Oct 1;22(19):3987-97. doi: 10.1093/hmg/ddt252. Epub 2013 Jun 4. Hum Mol Genet. 2013. PMID: 23736297

7

Mutations in repeating structural motifs of tropomyosin cause gain of function in skeletal muscle myopathy patients.

Marston S, Memo M, Messer A, Papadaki M, Nowak K, McNamara E, Ong R, El-Mezgueldi M, Li X, Lehman W. Marston S, et al. Among authors: mcnamara e, el mezgueldi m. Hum Mol Genet. 2013 Dec 15;22(24):4978-87. doi: 10.1093/hmg/ddt345. Epub 2013 Jul 25. Hum Mol Genet. 2013. PMID: 23886664 Free PMC article.

8

Muscle weakness in TPM3-myopathy is due to reduced Ca2+-sensitivity and impaired acto-myosin cross-bridge cycling in slow fibres.

Yuen M, Cooper ST, Marston SB, Nowak KJ, McNamara E, Mokbel N, Ilkovski B, Ravenscroft G, Rendu J, de Winter JM, Klinge L, Beggs AH, North KN, Ottenheijm CA, Clarke NF. Yuen M, et al. Hum Mol Genet. 2015 Nov 15;24(22):6278-92. doi: 10.1093/hmg/ddv334. Epub 2015 Aug 24. Hum Mol Genet. 2015. PMID: 26307083 Free PMC article.

9

X-ray recordings reveal how a human disease-linked skeletal muscle α-actin mutation leads to contractile dysfunction.

Ochala J, Ravenscroft G, McNamara E, Nowak KJ, Iwamoto H. Ochala J, et al. J Struct Biol. 2015 Dec;192(3):331-335. doi: 10.1016/j.jsb.2015.09.008. Epub 2015 Sep 25. J Struct Biol. 2015. PMID: 26407659

10

TPM3 deletions cause a hypercontractile congenital muscle stiffness phenotype.

Donkervoort S, Papadaki M, de Winter JM, Neu MB, Kirschner J, Bolduc V, Yang ML, Gibbons MA, Hu Y, Dastgir J, Leach ME, Rutkowski A, Foley AR, Krüger M, Wartchow EP, McNamara E, Ong R, Nowak KJ, Laing NG, Clarke NF, Ottenheijm C, Marston SB, Bönnemann CG. Donkervoort S, et al. Ann Neurol. 2015 Dec;78(6):982-994. doi: 10.1002/ana.24535. Epub 2015 Nov 13. Ann Neurol. 2015. PMID: 26418456 Free PMC article.

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