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Johnson, KJ, Fisher, MJ, Listernick, RL, North, KN, Schorry, EK, Viskochil, D, Weinstein, M, Rubin, JB, Gutmann, DH.
Parent-of-origin in individuals with familial neurofibromatosis type 1 and optic pathway gliomas..
Fam Cancer
11(4)
:
653 -656
2012
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Clarke, NF, Waddell, LB, Sie, LTL, van Bon, BWM, McLean, C, Clark, D, Kornberg, A, Lammens, M, North, KN.
Mutations in TPM2 and congenital fibre type disproportion..
Neuromuscul Disord
22(11)
:
955 -958
2012
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Mokbel, N, Ilkovski, B, Memo, M, Marttila, M, Kreissl, M, Wallgren-Pettersson, C, Menard, D, Marcorelles, P, Echaniz-Laguna, A, Reimann, J, et al.
C.P.15 K7del is a recurrent TPM2 nemaline myopathy mutation associated with joint contractures and increased calcium sensitivity.
Neuromuscular Disorders
22(9-10)
:
845
2012
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Geevasinga, N, Young, H, Clarke, N, North, K, Sank, K, Tanner, C, Needham, M.
S.P.55 Transition and outcomes for young men with Duchenne muscular dystrophy in New South Wales.
Neuromuscular Disorders
22(9-10)
:
885 -886
2012
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Payne, JM, Arnold, SS, Pride, NA, North, KN.
Does attention-deficit-hyperactivity disorder exacerbate executive dysfunction in children with neurofibromatosis type 1?.
Dev Med Child Neurol
54(10)
:
898 -904
2012
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