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Lancet Neurology, The, ISSN 1474-4422, 2015, Volume 14, Issue 4, pp. 420 - 434
Journal Article
Current Opinion in Neurology, ISSN 1350-7540, 2016, Volume 29, Issue 5, pp. 565 - 571
Purpose of reviewCongenital myasthenic syndromes (CMS) are a group of heterogeneous inherited disorders caused by mutations in genes encoding proteins... 
Congenital myasthenic syndromes | Collagen 13A1 | N-glycosylation pathway | Salbutamol, presynaptic | collagen 13A1 | AGRIN | MUSK | presynaptic | salbutamol | GDP-MANNOSE PYROPHOSPHORYLASE | LRP4 | GLYCOSYLATION | NEUROSCIENCES | DEFICIENCY | CLINICAL NEUROLOGY | NEUROMUSCULAR-TRANSMISSION | LIMB | MUTATIONS CAUSE | congenital myasthenic syndromes
Journal Article
Journal Article
Neurologic Clinics, ISSN 0733-8619, 05/2018, Volume 36, Issue 2, pp. 367 - 378
Journal Article
Journal Article
Current Neurology and Neuroscience Reports, ISSN 1528-4042, 8/2018, Volume 18, Issue 8, pp. 1 - 11
Journal Article
Journal Article