Associated Papers
Case Report: ISPD Gene Mutation Leads to Dystroglycanopathies: Genotypic Phenotype Analysis and Treatment Exploration.
Yang H et al.
Frontiers in Pediatrics, 2021
Identification of a Post-translational Modification with Ribitol-Phosphate and Its Defect in Muscular Dystrophy.
Kanagawa M et al.
Cell Reports, 2016
Human ISPD Is a Cytidyltransferase Required for Dystroglycan O-Mannosylation.
Riemersma M et al.
Chemistry & Biology, 2015
Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephaly.
Vuillaumier-Barrot S et al.
American Journal of Human Genetics, 2012
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