A.P.10
McNamara, E.L, Ravenscroft, G, Duff, R.M, Daniel, P.B, Robertson, S.P, Laing, N.G, Nowak, K.J
Published in Neuromuscular disorders : NMD (01.10.2014)
Published in Neuromuscular disorders : NMD (01.10.2014)
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Journal Article
P.10.22 Powerful mouse resource for determining modifier genes for neuromuscular diseases
Boutilier, J.K, Ma, J, Ram, R, McNamara, E, Laing, N.G, Morahan, G.E, Nowak, K.J
Published in Neuromuscular disorders : NMD (01.10.2013)
Published in Neuromuscular disorders : NMD (01.10.2013)
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Journal Article
G.P.50
Boutilier, J, Ram, R, Mehta, M, Thien, Q, McNamara, E.L, Ong, R, Messineo, A.M, Balmer, L, Wallace, A, Manship, G, Laing, N.G, Morahan, G, Nowak, K.J
Published in Neuromuscular disorders : NMD (01.10.2014)
Published in Neuromuscular disorders : NMD (01.10.2014)
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Journal Article
G.P.31
Messineo, A.M, Ma, J, Boutilier, J, McNamara, E.L, Ong, R, Wallace, A, Manship, G, Ram, R, Mehta, M, Laing, N.G, Morahan, G, Nowak, K.J
Published in Neuromuscular disorders : NMD (01.10.2014)
Published in Neuromuscular disorders : NMD (01.10.2014)
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Journal Article
G.P.263
Sztal, T.E, Zhao, M, Williams, C, Oorschot, V, Parslow, A, Hall, T.E, Costin, A, Ramm, G, Currie, P.D, Laing, N.G, Nowak, K.J, Bryson-Richardson, R.J
Published in Neuromuscular disorders : NMD (01.10.2014)
Published in Neuromuscular disorders : NMD (01.10.2014)
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Journal Article
D.P.14 Mining modifier genes for skeletal muscle actin diseases
Boutilier, J, McNamara, E, Laing, N.G, Morahan, G.E, Nowak, K.J
Published in Neuromuscular disorders : NMD (01.10.2012)
Published in Neuromuscular disorders : NMD (01.10.2012)
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Journal Article
C.P.18 Skeletal muscle myopathy mutations at the actin tropomyosin interface that cause gain or loss of function
Memo, M, Clarke, N.F, Laing, N.G, Nowak, K.J, Ravenscroft, G, Sewry, C, Jain, R, Jayawant, S, Lehtokari, V.L, Marttila, M, Wallgren-Pettersson, C, Marston, S.B
Published in Neuromuscular disorders : NMD (01.10.2012)
Published in Neuromuscular disorders : NMD (01.10.2012)
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Journal Article
G.P.92 Study of an autosomal recessive spinocerebellar ataxia with peripheral neuropathy
Yau, K.S, Lamont, P.J, Nowak, K.J, Kresoje, N, McNamara, E.L, Allcock, R.J, Davis, M.R, Laing, N.G
Published in Neuromuscular disorders : NMD (01.10.2012)
Published in Neuromuscular disorders : NMD (01.10.2012)
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Journal Article
P2.50 Discovery of novel proteins, polyalanine and pre-B-cell leukaemia transcription factor 2 (PBX2), upregulated in inflammatory myopathies
Jackaman, C, Ravenscroft, G, Fabian, V, Lamont, P.J, Nowak, K.J, Brais, B, Laing, N.G
Published in Neuromuscular disorders : NMD (01.10.2010)
Published in Neuromuscular disorders : NMD (01.10.2010)
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Journal Article
O.24 Mouse models of dominant ACTA1 disease recapitulate human disease and provide insight into therapies
Ravenscroft, G, Jackaman, C, Bringans, S, Papadimitriou, J.M, Griffiths, L.M, McNamara, E, Bakker, A.J, Davies, K.E, Laing, N.G, Nowak, K.J
Published in Neuromuscular disorders : NMD (01.10.2011)
Published in Neuromuscular disorders : NMD (01.10.2011)
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Journal Article
G.P.7.10 Investigation of the patho-biology of MYH7 myopathy mutations
Wallefeld, W, Nowak, K.J, Ingley, E, Stanley, W, Bond, C, Laing, N
Published in Neuromuscular disorders : NMD (01.09.2009)
Published in Neuromuscular disorders : NMD (01.09.2009)
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Journal Article
O.12 A new member of the BTB/Kelch family of proteins is mutated in nemaline myopathy type 6 (NEM6)
Sambuughin, N, Kyle, S.Y, Olive, M, Duff, R.M, Bayarsaikhan, M, Sivadorai, P, Nowak, K.J, Mastaglia, F.L, North, K, Ilkovski, B, van Engelen, B, Lamont, P, Davis, M.R, Laing, N.G, Goldfarb, L.G
Published in Neuromuscular disorders : NMD (01.10.2010)
Published in Neuromuscular disorders : NMD (01.10.2010)
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Journal Article
G.P.9.02 Expression of cardiac α-actin spares extraocular muscles in skeletal muscle α-actin diseases – determination of cardiac α-actin by MRM mass spectrometry
Ravenscroft, G, Colley, S.M.J, Walker, K.R, Clement, S, Bringans, S, Lipscombe, R, Fabian, V, Laing, N.G, Nowak, K.J
Published in Neuromuscular disorders : NMD (01.10.2008)
Published in Neuromuscular disorders : NMD (01.10.2008)
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Journal Article
G.P.9.01 A mutant skeletal muscle α -actin gene, fused to enhanced green fluorescent protein (EGFP) produces a unique myopathic mouse model
Nowak, K.J, Ravenscroft, G, Jackaman, C, Lim, E.M, Sewry, C.A, Potter, A, Squire, S, Fisher, R, Baker, E, Feng, J.J, Marston, S, Fabian, V, Morling, P.J, Bakker, A.J, Griffiths, L.M, Papadimitriou, J, Davies, K.E, Laing, N.G
Published in Neuromuscular disorders : NMD (01.10.2008)
Published in Neuromuscular disorders : NMD (01.10.2008)
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Journal Article
Optimizing Precision Medicine for Public Health
Bilkey, Gemma A, Burns, Belinda L, Coles, Emily P, Mahede, Trinity, Baynam, Gareth, Nowak, Kristen J
Published in Frontiers in public health (2019)
Published in Frontiers in public health (2019)
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Journal Article
Genomic Testing for Human Health and Disease Across the Life Cycle: Applications and Ethical, Legal, and Social Challenges
Bilkey, Gemma A, Burns, Belinda L, Coles, Emily P, Bowman, Faye L, Beilby, John P, Pachter, Nicholas S, Baynam, Gareth, J S Dawkins, Hugh, Nowak, Kristen J, Weeramanthri, Tarun S
Published in Frontiers in public health (2019)
Published in Frontiers in public health (2019)
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Journal Article
A.P.10: Investigating a novel knock-in mouse model with a mutation (E247K) in the skeletal muscle-specific filamin C gene
McNamara, E.L., Ravenscroft, G., Duff, R.M., Daniel, P.B., Robertson, S.P., Laing, N.G., Nowak, K.J.
Published in Neuromuscular disorders : NMD (01.10.2014)
Published in Neuromuscular disorders : NMD (01.10.2014)
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Journal Article
Nemaline myopathy with stiffness and hypertonia associated with an ACTA1 mutation
Jain, R K, Jayawant, S, Squier, W, Muntoni, F, Sewry, C A, Manzur, A, Quinlivan, R, Lillis, S, Jungbluth, H, Sparrow, J C, Ravenscroft, G, Nowak, K J, Memo, M, Marston, S B, Laing, N G
Published in Neurology (03.04.2012)
Published in Neurology (03.04.2012)
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Journal Article
G.P.50: Mapping a cardiac actin expression QTL using recombinant inbred mouse models
Boutilier, J., Ram, R., Mehta, M., Thien, Q., McNamara, E.L., Ong, R., Messineo, A.M., Balmer, L., Wallace, A., Manship, G., Laing, N.G., Morahan, G., Nowak, K.J.
Published in Neuromuscular disorders : NMD (01.10.2014)
Published in Neuromuscular disorders : NMD (01.10.2014)
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Journal Article