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Elife|May 1, 2016
The functional O-mannose glycan on α-dystroglycan contains a phospho-ribitol primed for matriglycan additionJeremy L Praissman, Tobias Willer, M Osman Sheikh, et al.EMBO Reports|October 1, 2019
A new patient-derived iPSC model for dystroglycanopathies validates a compound that increases glycosylation of α-dystroglycanJihee Kim, Beatrice Lana, Silvia Torelli, et al.Human Molecular Genetics|January 30, 2013
Missense mutations in β-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1) cause Walker-Warburg syndromeKaren Buysse, Moniek Riemersma, Gareth Powell, et al.Nature Communications|October 22, 2021
Comparative epigenetic analysis of tumour initiating cells and syngeneic EPSC-derived neural stem cells in glioblastomaClaire Vinel, Gabriel Rosser, Loredana Guglielmi, et al.American Journal of Human Genetics|March 5, 2013
Mutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of α-dystroglycanElizabeth Stevens, Keren J Carss, Sebahattin Cirak, et al.American Journal of Human Genetics|June 18, 2013
Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycanKeren J Carss, Elizabeth Stevens, A Reghan Foley, et al.Nature Genetics|April 24, 2012
Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycanTony Roscioli, Erik-Jan Kamsteeg, Karen Buysse, et al.Pageof 2