Associated Papers
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
40893834 (PubMed )
Supplement: mmc1.xlsx › Supplementary_Table_3
Clinical and genetic characterisation of a large Indian congenital myasthenic syndrome cohort.
Polavarapu K et al.
Brain : a Journal of Neurology, 2024
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: Report of Two New Pediatric Patients and Brief Review of the Literature.
Özsoy Ö et al.
Molecular Syndromology, 2023
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 2019
31802016 (PubMed )
Supplement: 41586_2019_1793_MOESM3_ESM.xlsx › S4b_-_Disease_Var
DPAGT1 Deficiency with Encephalopathy (DPAGT1-CDG): Clinical and Genetic Description of 11 New Patients.
Ng BG et al.
Jimd Reports, 2019
Structures of DPAGT1 Explain Glycosylation Disease Mechanisms and Advance TB Antibiotic Design.
Dong YY et al.
Cell, 2018
Fetal akinesia deformation sequence due to a congenital disorder of glycosylation.
Ganetzky R et al.
American Journal of Medical Genetics. Part A, 2015
Congenital myasthenic syndrome caused by mutations in DPAGT.
Klein A et al.
Neuromuscular Disorders : Nmd, 2015
Clinical features of congenital myasthenic syndrome due to mutations in DPAGT1.
Finlayson S et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2013
A compound heterozygous mutation in DPAGT1 results in a congenital disorder of glycosylation with a relatively mild phenotype.
Iqbal Z et al.
European Journal of Human Genetics : Ejhg, 2013
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