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
DPAGT1-CDG: Functional analysis of disease-causing pathogenic mutations and role of endoplasmic reticulum stress.
Yuste-Checa P et al.
Plos One, 2017
DPAGT1 myasthenia and myopathy: genetic, phenotypic, and expression studies.
Selcen D et al.
Neurology, 2014
Genetic disorders of dolichol synthesis and utilization.
Pieters E et al.
Molecular Genetics and Metabolism, 0
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