-
Hernández-Deviez, DJ, Martin, S, Laval, SH, Lo, HP, Cooper, ST, North, KN, Bushby, K, Parton, RG.
Aberrant dysferlin trafficking in cells lacking caveolin or expressing dystrophy mutants of caveolin-3..
Hum Mol Genet
15(1)
:
129 -142
2006
view publication
-
Senderek, J, Krieger, M, Stendel, C, Bergmann, C, Moser, M, Breitbach-Faller, N, Rudnik-Schöneborn, S, Blaschek, A, Wolf, NI, Harting, I, et al.
Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathy..
Nat Genet
37(12)
:
1312 -1314
2005
view publication
-
Ilkovski, B, Clement, S, Sewry, C, North, KN, Cooper, ST.
Defining alpha-skeletal and alpha-cardiac actin expression in human heart and skeletal muscle explains the absence of cardiac involvement in ACTA1 nemaline myopathy..
Neuromuscul Disord
15(12)
:
829 -835
2005
view publication
-
Clarke, NF, Smith, RLL, Bahlo, M, North, KN.
A novel X-linked form of congenital fiber-type disproportion..
Ann Neurol
58(5)
:
767 -772
2005
view publication
-
Hyman, SL, Shores, A, North, KN.
The nature and frequency of cognitive deficits in children with neurofibromatosis type 1..
Neurology
65(7)
:
1037 -1044
2005
view publication