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Quinlan, KGR, Seto, JT, Turner, N, Floetenmeyer, M, Macarthur, DG, Raftery, JM, Yang, N, Parton, RG, Cooney, GJ, North, KN. G.O.4 α-Actinin-3 regulates muscle glycogen phosphorylase: A potential mechanism for the metabolic consequences of the common human null allele of ACTN3.
Neuromuscular Disorders
19(8-9)
:
545 -546
2009
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Cairns, AG, North, KN. Cerebrovascular dysplasia in neurofibromatosis type 1.
Journal of Neurology Neurosurgery & Psychiatry
79(10)
:
1165
2008
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Ryan, MM, Schnell, C, Strickland, CD, Shield, LK, Morgan, G, Iannaccone, ST, Laing, NG, Beggs, AH, North, KN. Nemaline myopathy: A clinical study of 143 cases.
Annals of Neurology
50(3)
:
312 -320
2001
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Gupta, VA, Ravenscroft, G, Shaheen, R, Todd, EJ, Swanson, LC, Shiina, M, Ogata, K, Hsu, C, Clarke, NF, Darras, BT, et al. Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy.
American Journal of Human Genetics
93(6)
:
1108 -1117
2013
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Foley, AR, Quijano-Roy, S, Collins, J, Straub, V, Deconinck, N, Mercuri, EM, D'Amico, A, Bertini, E, North, K, Ryan, M, et al. 1FC2.3 The Identification of a Viable Outcome Measure in the Collagen VI Myopathies Promotes Progress Toward Clinical Trials.
European Journal of Paediatric Neurology
15:
s12 -s13
2011
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