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O'Grady, GL, Best, HA, Oates, EC, Kaur, S, Charlton, A, Brammah, S, Punetha, J, Kesari, A, North, KN, Ilkovski, B, et al.
Recessive ACTA1 variant causes congenital muscular dystrophy with rigid spine.
European Journal of Human Genetics
23(6)
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883 -886
2015
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Lorenzo, J, Barton, B, Arnold, SS, North, KN.
Developmental Trajectories of Young Children with Neurofibromatosis Type 1: A Longitudinal Study from 21 to 40 Months of Age.
The Journal of Pediatrics
166(4)
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1006 -1012.e1
2015
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Cabrera-Serrano, M, Ghaoui, R, Ravenscroft, G, Johnsen, RD, Davis, MR, Corbett, A, Reddel, S, Sue, CM, Liang, C, Waddell, LB, et al.
Expanding the phenotype of GMPPB mutations.
Brain
138(4)
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836 -844
2015
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Yan, X, Eynon, N, Papadimitriou, I, Kuang, J, Tirosh, O, O'Keefe, L, Anderson, M, North, K, Bishop, D.
α‐actinin‐3 deficiency is associated with increased exercise performance and training‐induced changes in mitochondrial respiration in humans.
The FASEB Journal
29(S1)
:
2015
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Kang, PB, Morrison, L, Iannaccone, ST, Graham, RJ, Bönnemann, CG, Rutkowski, A, Hornyak, J, Wang, CH, North, K, Oskoui, M, et al.
Evidence-based guideline summary.
Neurology
84(13)
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1369 -1378
2015
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