Associated Papers
A child of congenital muscular dystrophy-dystroglycanopathy with a novel variant in the CRPPA gene: a case report and literature review.
Zhang S et al.
Translational Pediatrics, 2025
Case Report: ISPD Gene Mutation Leads to Dystroglycanopathies: Genotypic Phenotype Analysis and Treatment Exploration.
Yang H et al.
Frontiers in Pediatrics, 2021
CDG Therapies: From Bench to Bedside.
Brasil S et al.
International Journal of Molecular Sciences, 2018
Human ISPD Is a Cytidyltransferase Required for Dystroglycan O-Mannosylation.
Riemersma M et al.
Chemistry & Biology, 2015
ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies.
Cirak S et al.
Brain : a Journal of Neurology, 2013
Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan.
Roscioli T et al.
Nature Genetics, 2012
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