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Hutchinson, DO, Charlton, A, Laing, NG, Ilkovski, B, North, KN.
Autosomal dominant nemaline myopathy with intranuclear rods due to mutation of the skeletal muscle ACTA1 gene: Clinical and pathological variability within a kindred.
Neuromuscular Disorders
16(2)
:
113 -121
2006
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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.
Human Molecular Genetics
15(1)
:
129 -142
2006
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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.
Nature Genetics
37(12)
:
1312 -1314
2005
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Ilkovski, B, Clement, S, Sewry, C, North, KN, Cooper, ST.
Defining α-skeletal and α-cardiac actin expression in human heart and skeletal muscle explains the absence of cardiac involvement in ACTA1 nemaline myopathy.
Neuromuscular Disorders
15(12)
:
829 -835
2005
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Clarke, NF, Smith, RLL, Bahlo, M, North, KN.
A novel X‐linked form of congenital fiber‐type disproportion.
Annals of Neurology
58(5)
:
767 -772
2005
view publication