Genetic Defects in Muscular Dystrophy
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Elsevier
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1. Protein O-mannosylation across kingdoms and related diseases: From glycobiology to glycopathology;Biomedicine & Pharmacotherapy;2022-04
2. Post-translational Modification in Muscular Dystrophies;Advances in Experimental Medicine and Biology;2022
3. Compound heterozygous POMGNT1 mutations leading to muscular dystrophy-dystroglycanopathy type A3: a case report;BMC Pediatrics;2019-04-08
4. 3D structural analysis of proteinO-mannosyl kinase, POMK, a causative gene product of dystroglycanopathy;Genes to Cells;2017-03-02
5. A POGLUT 1 mutation causes a muscular dystrophy with reduced Notch signaling and satellite cell loss;EMBO Molecular Medicine;2016-10-10
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