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Senderek, J, Krieger, M, Stendel, C, North, K, Muntoni, F, Quijano-Roy, S, Ebinger, F, Schröder, JM, Voit, T, Weis, J, et al. P.I.5 Mutations in SIL1 cause Marinesco–Sjögren syndrome, a cerebellar ataxia with cataract and myopathy.
Neuromuscular Disorders
16(9-10)
:
683
2006
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Oates, EC, Ilkovski, B, North, KN, Clarke, NF. P3.37 New histopathlogical features in Centronuclear Myopathy caused by DNM2 mutations – clues to disease pathogenesis.
Neuromuscular Disorders
21(9-10)
:
693
2011
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London, K, Moharir, M, North, K, Howman-Giles, R. Children with Neurofi bromatosis Type 1: Positron Emission Tomography.
2:
99 -105
2012
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Waddell, LB, Lemckert, F, Tran, J, Zheng, F, Evesson, FJ, Hawkes, J, Lek, A, Street, N, Lin, P, Clarke, NF, et al. P1.23 Muscle membrane repair proteins are upregulated in muscular dystrophy and localise to t-tubule membranes following mechanical stretch.
Neuromuscular Disorders
20(9-10)
:
607
2010
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Bray, P, Bundy, AC, Ryan, MM, North, KN, Burns, J. Health status of boys with Duchenne muscular dystrophy: A parent's perspective.
Journal of Paediatrics and Child Health
47(8)
:
557 -562
2011
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