Associated Papers
Novel POMGnT1 mutations define broader phenotypic spectrum of muscle-eye-brain disease.
Hehr U et al.
Neurogenetics, 2007
Carriers and patients with muscle-eye-brain disease can be rapidly diagnosed by enzymatic analysis of fibroblasts and lymphoblasts.
Vajsar J et al.
Neuromuscular Disorders : Nmd, 2006
LARGE can functionally bypass alpha-dystroglycan glycosylation defects in distinct congenital muscular dystrophies.
Barresi R et al.
Nature Medicine, 2004
Glycosylation in congenital muscular dystrophies.
Endo T et al.
Biological & Pharmaceutical Bulletin, 2003
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