-
Clarke, NF, Amburgey, K, Teener, J, Camelo-Piragua, S, Kesari, A, Punetha, J, Waddell, LB, Davis, M, Laing, NG, Monnier, N, et al.
A novel mutation expands the genetic and clinical spectrum of MYH7-related myopathies..
Neuromuscul Disord
23(5)
:
432 -436
2013
view publication
-
Oates, EC, Payne, JM, Foster, SL, Clarke, NF, North, KN.
Young Australian adults with NF1 have poor access to health care, high complication rates, and limited disease knowledge..
Am J Med Genet A
161A(4)
:
659 -666
2013
view publication
-
Lek, A, Evesson, FJ, Lemckert, FA, Redpath, GMI, Lueders, A-K, Turnbull, L, Whitchurch, CB, North, KN, Cooper, ST.
Calpains, cleaved mini-dysferlinC72, and L-type channels underpin calcium-dependent muscle membrane repair..
J Neurosci
33(12)
:
5085 -5094
2013
view publication
-
Mokbel, N, Ilkovski, B, Kreissl, M, Memo, M, Jeffries, CM, Marttila, M, Lehtokari, V-L, Lemola, E, Grönholm, M, Yang, N, et al.
K7del is a common TPM2 gene mutation associated with nemaline myopathy and raised myofibre calcium sensitivity..
Brain
136(Pt 2)
:
494 -507
2013
view publication
-
Friedlander, SM, Herrmann, AL, Lowry, DP, Mepham, ER, Lek, M, North, KN, Organ, CL.
ACTN3 allele frequency in humans covaries with global latitudinal gradient..
PLoS One
8(1)
:
e52282
2013
view publication