Associated Papers
Pathogenic DPAGT1 variants in limb-girdle congenital myasthenic syndrome (LG-CMS) associated with tubular aggregates and ORAI1 hypoglycosylation.
Brande LV et al.
Neuropathology and Applied Neurobiology, 2023
Novel DPAGT1 Gene Mutation in Two Twins with Congenital Myasthenic Syndrome and a Review of the Literature.
Cheli M et al.
Journal of Neuromuscular Diseases, 2023
Structures of DPAGT1 Explain Glycosylation Disease Mechanisms and Advance TB Antibiotic Design.
Dong YY et al.
Cell, 2018
30388443 (PubMed )
Supplement: mmc2.pdf
Genetic basis and phenotypic features of congenital myasthenic syndromes.
Engel AG
Handbook of Clinical Neurology, 2018
Clinical and genetic basis of congenital myasthenic syndromes.
Souza PV et al.
Arquivos De Neuro-psiquiatria, 2016
Congenital myasthenic syndromes: pathogenesis, diagnosis, and treatment.
Engel AG et al.
The Lancet. Neurology, 2015
DPAGT1 myasthenia and myopathy: genetic, phenotypic, and expression studies.
Selcen D et al.
Neurology, 2014
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