Associated Papers
NGLY1-CDDG: report of two cases from India and brief review of literature.
Dave MB et al.
Journal of Genetics, 2025
Progressive myoclonic epilepsy as an expanding phenotype of NGLY1-associated congenital deglycosylation disorder: A case report and review of the literature.
Sonoda Y et al.
European Journal of Medical Genetics, 2024
NGLY1 mutations cause protein aggregation in human neurons.
Manole A et al.
Cell Reports, 2023
NGLY1 deficiency-A rare congenital disorder of deglycosylation.
Lipari Pinto P et al.
Jimd Reports, 2020
Variants in NGLY1 lead to intellectual disability, myoclonus epilepsy, sensorimotor axonal polyneuropathy and mitochondrial dysfunction.
Panneman DM et al.
Clinical Genetics, 2020
NGLY1 deficiency: Novel patient, review of the literature and diagnostic algorithm.
Lipiński P et al.
Jimd Reports, 2020
Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathway.
Enns GM et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2014
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