G. Morris

Substantial deficiency of free sialic acid in muscles of patients with GNE myopathy and in a mouse model

M. Vellard, E. Kakkis, Paul Lee, 2017, PloS one.

Autosomal dominant Emery–Dreifuss muscular dystrophy: a new family with late diagnosis

S. Manilal, K. Schwartz, E. Fernández-Álvarez, 2002, Neuromuscular Disorders.

D.P.4.10 Muscleblind-like proteins: Similarities and differences in normal and myotonic dystrophy muscle

G. Butler-Browne, V. Jacquemin, D. Furling, 2008, Neuromuscular Disorders.

Early onset X-linked Emery-Dreifuss muscular dystrophy resembling limb-girdle muscular dystrophy

F. Muntoni, V. Dubowitz, S. Manilal, 1997, Neuromuscular Disorders.