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2 articles related to "Dystroglycanopathies"

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Articles

Case Report

Published on 18 Aug 2021

Case Report: ISPD Gene Mutation Leads to Dystroglycanopathies: Genotypic Phenotype Analysis and Treatment Exploration

in Pediatric Neurology

Haiyan Yang
Fang Cai
Hongmei Liao
Siyi Gan
Ting Xiao
Liwen Wu

Frontiers in Pediatrics

doi 10.3389/fped.2021.710553

4,152 views
5 citations

Original Research

Published on 03 Apr 2025

Live cell optical super-resolution microscopy of dystroglycan mutants as a model for dystroglycanopathies in multiple cell lines

in Protein Biochemistry for Basic and Applied Sciences

Francesca Sciandra
Manuela Bozzi
Alina Witt
Paul Goffing
Sonia Covaceuszach
Sandra Blaess
Alberto Cassetta
Maria Giulia Bigotti
Thomas Huser
Andrea Brancaccio

Frontiers in Molecular Biosciences

doi 10.3389/fmolb.2025.1558170

2,308 views