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Burns, J, Bray, P, Cross, LA, North, KN, Ryan, MM, Ouvrier, RA.
Hand involvement in children with Charcot-Marie-Tooth disease type 1A..
Neuromuscul Disord
18(12)
:
970 -973
2008
view publication
-
Compton, AG, Albrecht, DE, Seto, JT, Cooper, ST, Ilkovski, B, Jones, KJ, Challis, D, Mowat, D, Ranscht, B, Bahlo, M, et al.
Mutations in contactin-1, a neural adhesion and neuromuscular junction protein, cause a familial form of lethal congenital myopathy..
Am J Hum Genet
83(6)
:
714 -724
2008
view publication
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Baker, NL, Zamurs, L, Tooley, L, Peat, RA, North, KN, Lamande, SR.
An a2(VI) C1 mutation prevents collagen VI microfibril formation.
Matrix Biology
27:
54
2008
view publication
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Martin, PT, Shelton, GD, Dickinson, PJ, Sturges, BK, Xu, R, LeCouteur, RA, Guo, LT, Grahn, RA, Lo, HP, North, KN, et al.
Muscular dystrophy associated with alpha-dystroglycan deficiency in Sphynx and Devon Rex cats..
Neuromuscul Disord
18(12)
:
942 -952
2008
view publication
-
Clement, E, Mercuri, E, Godfrey, C, Smith, J, Robb, S, Kinali, M, Straub, V, Bushby, K, Manzur, A, Talim, B, et al.
Brain involvement in muscular dystrophies with defective dystroglycan glycosylation..
Ann Neurol
64(5)
:
573 -582
2008
view publication