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Ravenscroft, G, Sollis, E, Charles, AK, Fabian, VA, North, KN, Baynam, G, Laing, NG. P3.32 The molecular genetics of monogenic neuromuscular disorders characterised by reduced foetal movement.
Neuromuscular Disorders
21(9-10)
:
691
2011
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Evesson, FJ, Peat, RA, Lek, A, Brilot, F, Lo, HP, Dale, RC, Parton, RG, North, KN, Cooper, ST. Reduced Plasma Membrane Expression of Dysferlin Mutants Is Attributed to Accelerated Endocytosis via a Syntaxin-4-associated Pathway*.
Journal of Biological Chemistry
285(37)
:
28529 -28539
2010
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Marttila, M, Lehtokari, V, Marston, S, Nyman, TA, Barnerias, C, Beggs, AH, Bertini, E, Ceyhan‐Birsoy, Ö, Cintas, P, Gerard, M, et al. Mutation Update and Genotype–Phenotype Correlations of Novel and Previously Described Mutations in TPM2 and TPM3 Causing Congenital Myopathies.
Human Mutation
35(7)
:
779 -790
2014
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Au, CG, Butler, TL, Egan, JR, Sherwood, MC, North, KN, Winlaw, DS. Increased Connective Tissue Growth Factor Expression Associated with Functional Impairment and Extracellular Matrix Remodelling in Dystrophin-Deficient Heart.
Heart Lung and Circulation
16:
s23
2007
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Sambuughin, N, Yau, KS, Olivé, M, Duff, RM, Bayarsaikhan, M, Lu, S, Gonzalez-Mera, L, Sivadorai, P, Nowak, KJ, Ravenscroft, G, et al. Dominant Mutations in KBTBD13, a Member of the BTB/Kelch Family, Cause Nemaline Myopathy with Cores.
American Journal of Human Genetics
88(1)
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122
2011
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