-
Tay, V, Chiotis, M, Reardon, K, Lo, H, North, KN.
P.P.6 04 The clinical and molecular characterisation of calpain deficiency in patients with neuromuscular disorders.
Neuromuscular Disorders
16(9-10)
:
695
2006
view publication
-
Senderek, J, Krieger, M, Stendel, C, North, K, Muntoni, F, Quijano-Roy, S, Ebinger, F, Schröder, JM, Voit, T, Weis, J, et al.
P.I.5 Mutations in SIL1 cause Marinesco–Sjögren syndrome, a cerebellar ataxia with cataract and myopathy.
Neuromuscular Disorders
16(9-10)
:
683
2006
view publication
-
Clarke, NF, Gonzalez, V, Kornberg, AJ, Shield, LK, Manson, JI, Smith, RLL, Beggs, AH, Arbuckle, S, Bourne, AJ, Dennett, X, et al.
G.O.2 A clinical and pathological study of congenital fibre type disproportion.
Neuromuscular Disorders
16(9-10)
:
646
2006
view publication
-
Godfrey, C, Mein, R, Brockington, M, Elson, E, Topaloglu, H, Smith, J, Escolar, D, Bertini, E, Merlini, I, Mercuri, E, et al.
P.O.1 Molecular genetic analysis of 6 glycosyltransferases in a large population of dystroglycanopathy patients significantly widens the spectrum of phenotypes resulting from POMT1, POMGnT1 and Fukutin mutations.
Neuromuscular Disorders
16(9-10)
:
683
2006
view publication
-
Butler, TL, Au, CG, Yang, B, Egan, JR, Tan, YM, Hardeman, EC, North, KN, Verkman, AS, Winlaw, DS.
Cardiac aquaporin expression in humans, rats, and mice.
AJP Heart and Circulatory Physiology
291(2)
:
h705 -h713
2006
view publication