Key Publications

O'Grady GL, Best H, Oates EC, Kaur S, Charlton A, Brammah S, Punetha J, Kesari A, North K, Ilkovski B, Hoffman E, Clarke NF (2015) Recessive ACTA1 variant causes congenital muscular dystrophy with rigid spine. Eur J Hum Genet 23(6):883-6

Rossor AM, Oates EC, Salter HK, Liu Y, Murphy SM, Schule R, Gonzalez MA, Scoto M, Phadke R, Sewry CA, Houlden H, Jordanova A, Tournev I, Chamova T, Litvinenko I, Zuchner S, Herrmann DN, Blake J, Sowden JE, Acsadi G, Rodriguez ML, Menezes MP, Clarke NF, Auer Grumbach M, Bullock SL, Muntoni F, Reilly MM, North KN (2015) Phenotypic and molecular insights into spinal muscular atrophy due to mutations in BICD2. Brain 138(Pt 2):293-310

Yuen M, Sandaradura SA, Dowling JJ, Kostyukova AS, Moroz N, Quinlan KG, Lehtokari VL, Ravenscroft G, Todd EJ, Ceyhan-Birsoy O, Gokhin DS, Maluenda J, Lek M, Nolent F, Pappas CT, Novak SM, D'Amico A, Malfatti E, Thomas BP, Gabriel SB, Gupta N, Daly MJ, Ilkovski B, Houweling PJ, Davidson AE, Swanson LC, Brownstein CA, Gupta VA, Medne L, Shannon P, Martin N, Bick DP, Flisberg A, Holmberg E, Van den Bergh P, Lapunzina P, Waddell LB, et al., Clarke NF (2014) Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy. J Clin Invest 124(11):4693-708

Menezes MP, Waddell LB, Lenk GM, Kaur S, MacArthur DG, Meisler MH, Clarke NF (2014) Whole exome sequencing identifies three recessive FIG4 mutations in an apparently dominant pedigree with Charcot-Marie-Tooth disease. Neuromuscular Disorders 24(8):666-70

Romero NB, Sandaradura SA, Clarke NF (2013) Recent advances in nemaline myopathy. Curr Opin Neurol 26(5):519-26

Oates EC, Rossor AM, Hafezparast M, Gonzalez M, Speziani F, MacArthur DG, Lek M, Cottenie E, Scoto M, Foley AR, Hurles M, Houlden H, Greensmith L, Auer-Grumbach M, Pieber TR, Strom TM, Schule R, Herrmann DN, Sowden JE, Acsadi G,
Menezes MP, Clarke NF, Züchner S; UK10K, Muntoni F, North KN, Reilly MM (2013) Mutations in BICD2 cause dominant congenital spinal muscular atrophy and hereditary spastic paraplegia. Am J Hum Genet 92(6):965-73

Oates EC, Reddel S, Rodriguez ML, Gandolfo LC, Bahlo M, Hawke SH, Lamandé SR, Clarke NF, North KN (2012) Autosomal dominant congenital spinal muscular atrophy: a true form of spinal muscular atrophy caused by early loss of anterior horn cells. Brain 135(Pt 6):1714-23

Waddell LB, Monnier N, Cooper ST, North KN, Clarke NF (2011) Using complementary DNA from MyoD-transduced fibroblasts to sequence large muscle genes. Muscle Nerve 44(2):280-2