-
Compton, AG, Albrecht, DE, Cooper, ST, Mowat, D, Jones, KJ, Yang, N, Seto, J, Ranscht, B, Bahlo, M, Froehner, SC, et al. G.O.3 Mutations in contactin-1, a neuronal cell adhesion molecule expressed at the neuromuscular junction, cause a novel form of congenital lethal myopathy.
Neuromuscular Disorders
18(9-10)
:
726
2008
view publication
-
Ghaoui, R, Corbett, A, Needham, M, Farrar, M, Sampaio, H, Mowat, D, Rajagopalan, S, Liang, C, Kaur, S, Waddell, L, et al. G.P.219 Diagnosing the limb-girdle muscular dystrophies using whole exome sequencing: An Australian cohort.
Neuromuscular Disorders
24(9-10)
:
882 -883
2014
view publication
-
Hutchinson, DO, Charlton, A, Laing, NG, Ilkovski, B, North, KN. Autosomal dominant nemaline myopathy with intranuclear rods due to mutation of the skeletal muscle ACTA1 gene: Clinical and pathological variability within a kindred.
Neuromuscular Disorders
16(2)
:
113 -121
2006
view publication
-
Schnell, C, Kan, A, North, KN. ‘An artefact gone awry’: Identification of the first case of nemaline myopathy by Dr R.D.K. Reye.
Neuromuscular Disorders
10(4-5)
:
307 -312
2000
view publication
-
Roberts, HL, Day, B, Lo, H, McLean, C, North, K. Rippling muscle disease.
Journal of Clinical Neuroscience
13(5)
:
576 -578
2006
view publication