-
Clement, E, Mercuri, E, Rutherford, M, Smith, J, North, K, Kinali, M, Straub, V, Bushby, K, Cowan, F, Godfrey, C, et al.
C.P.3.06 Spectrum of brain changes and genotype-phenotype correlations in secondary dystroglycanopathies.
Neuromuscular Disorders
17(9-10)
:
871
2007
view publication
-
Hyman, SL, Gill, DS, Shores, EA, Steinberg, A, North, KN.
T2 hyperintensities in children with neurofibromatosis type 1 and their relationship to cognitive functioning..
J Neurol Neurosurg Psychiatry
78(10)
:
1088 -1091
2007
view publication
-
Godfrey, C, Clement, E, Mein, R, Brockington, M, Smith, J, Talim, B, Straub, V, Robb, S, Quinlivan, R, Feng, L, et al.
Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan..
Brain
130(Pt 10)
:
2725 -2735
2007
view publication
-
MacArthur, DG, Seto, JT, Raftery, JM, Quinlan, KG, Huttley, GA, Hook, JW, Lemckert, FA, Kee, AJ, Edwards, MR, Berman, Y, et al.
Loss of ACTN3 gene function alters mouse muscle metabolism and shows evidence of positive selection in humans..
Nat Genet
39(10)
:
1261 -1265
2007
view publication
-
Clarke, N, Kolski, H, Dye, D, Lim, E, Smith, R, Patel, R, Fahey, M, Laing, N, North, K.
C.P.1.03 TPM3 is a recurrent cause of congenital fibre type disproportion and is associated with a consistent phenotype.
Neuromuscular Disorders
17(9-10)
:
834 -835
2007
view publication