-
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)
:
1006 -1012.e1
2015
view publication
-
Crawford, HA, Barton, B, Wilson, MJ, Berman, Y, McKelvey‐Martin, VJ, Morrison, PJ, North, KN. Uptake of health monitoring and disease self‐management in Australian adults with neurofibromatosis type 1: strategies to improve care.
Clinical Genetics
89(3)
:
385 -391
2015
view publication
-
Foley, AR, Quijano-Roy, S, Collins, J, Straub, V, McCallum, M, Deconinck, N, Mercuri, E, Pane, M, D’Amico, A, Bertini, E, et al. P.1.2 Natural history of pulmonary function in collagen VI-related myopathies: An international study.
Neuromuscular Disorders
23(9-10)
:
741 -742
2013
view publication
-
Quinlan, KGR, Seto, JT, Turner, N, Vandebrouck, A, Floetenmeyer, M, Macarthur, DG, Raftery, JM, Lek, M, Yang, N, Parton, RG, et al. α-Actinin-3 deficiency results in reduced glycogen phosphorylase activity and altered calcium handling in skeletal muscle.
Human Molecular Genetics
19(7)
:
1335 -1346
2010
view publication
-
Compton, AG, Cooper, ST, Hill, PM, Yang, N, Froehner, SC, North, KN. The Syntrophin-Dystrobrevin Subcomplex in Human Neuromuscular Disorders.
Journal of Neuropathology & Experimental Neurology
64(4)
:
350 -361
2005
view publication