Associated Papers
GM2 activator deficiency: An ultra-rare disorder with a new case and review of 22 published cases.
Yoldaş Çelik M et al.
Molecular Genetics and Metabolism Reports, 2025
Whole genome sequencing identifies genetic variants associated with neurogenic inflammation in rosacea.
Deng Z et al.
Nature Communications, 2023
37402769 (PubMed )
Supplement: 41467_2023_39761_MOESM5_ESM.xlsx › original
GM2 gangliosidosis AB variant: first case of late onset and review of the literature.
Ganne B et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2022
GM2-Gangliosidosis, AB Variant: Clinical, Ophthalmological, MRI, and Molecular Findings.
Renaud D et al.
Jimd Reports, 2016
Structure of the GM2A gene: identification of an exon 2 nonsense mutation and a naturally occurring transcript with an in-frame deletion of exon 2.
Chen B et al.
American Journal of Human Genetics, 1999
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