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The Journal of Clinical Investigation|June 20, 2025
Neuraminidase 1 secondary deficiency contributes to CNS pathology in neurological mucopolysaccharidoses via brain protein hypersialylationTianMeng Xu, Rachel Heon-Roberts, Travis Moore, et al.Biorxiv : the Preprint Server for Biology|September 2, 2025
Mono-allelic p.R37H Dehydrodolichyl Diphosphate Synthase variants lead to protein glycosylation defects, aberrant lipid profiles and interneuron scarcity in a novel mouse model of progressive epileptic encephalopathyAfitz Da Silva, Samuel Boris Tene Tadoum, Irena J J Muffels, et al.Science Advances|June 30, 2023
<i>N</i>-acetylneuraminate pyruvate lyase controls sialylation of muscle glycoproteins essential for muscle regeneration and functionAfitz Da Silva, Junio Dort, Zakaria Orfi, et al.Brain : a Journal of Neurology|June 8, 2022
Phenotypic and genetic spectrum of ATP6V1A encephalopathy: a disorder of lysosomal homeostasisRenzo Guerrini, Davide Mei, Katalin Kerti-Szigeti, et al.Human Mutation|March 1, 2019
SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported IndividualsBobby G Ng, Paulina Sosicka, Satish Agadi, et al.Pageof 9