Sage Journals: Discover world-class research

Open access

Review article

First published 2017

Muscular Dystrophy with Ribitol-Phosphate Deficiency: A Novel Post-Translational Mechanism in Dystroglycanopathy

Motoi Kanagawa, Tatsushi Toda

Journal of Neuromuscular Diseases

Open access

Research article

First published 2025-11

Pathogenic mechanisms and clinical insights into B3GALNT2 -related alpha-dystroglycanopathies

Xiaona Fu, Hui Wang, Wenjia Chai [...]

Journal of Neuromuscular Diseases

Open access

Review article

First published 2024-03-05

Break Down of the Complexity and Inconsistency Between Levels of Matriglycan and Disease Phenotype in FKRP-Related Dystroglycanopathies: A Review and Model of Interpretation

Qi L. Lu, Molly C. Holbrook, Marcela P. Cataldi [...]

Journal of Neuromuscular Diseases

Open access

Review article

First published 2015

Dystroglycanopathies: About Numerous Genes Involved in Glycosylation of One Single Glycoprotein

Céline Bouchet-Séraphin, Sandrine Vuillaumier-Barrot, Nathalie Seta

Journal of Neuromuscular Diseases

Retricted access

Research article

First published 2013-03

Adeno-Associated Viral-Mediated LARGE Gene Therapy Rescues the Muscular Dystrophic Phenotype in Mouse Models of Dystroglycanopathy

Miao Yu, Yonglin He, Kejian Wang [...]

Human Gene Therapy

Retricted access

Research article

First published 2025

Clinical and Genetic Landscape of Children With Congenital Muscular Dystrophies From North India

Anirban Basu, Renu Suthar, Abhishek Pandey [...]

Journal of Child Neurology

Retricted access

Research article

First published 2017-2

Childhood Activity on Progression in Limb Girdle Muscular Dystrophy 2I

Brianna N. Brun, Shelley R. H. Mockler, Katie M. Laubscher [...]

Journal of Child Neurology

Retricted access

Research article

First published 2014-2

Clinical Features and Molecular Characterization of a Patient With Muscle-Eye-Brain Disease

Madalina Raducu, Rocío P. Cotarelo, Rogelio Simón [...]

Journal of Child Neurology

Retricted access

Research article

First published 2026-3

Dysfunctional CRPPA is responsible for recessively inherited Hereford hydrocephalus with muscular dystrophy and retinal dysplasia

Renae L. Schroeder, Anna M. Fuller, Rachel R. Reith [...]

Veterinary Pathology

Retricted access

Case report

First published 2015-8

Ultrasound diagnosis of bilateral cataracts in a fetus with possible cerebro-ocular congential muscular dystrophy during the routine second trimester anomaly scan

Alexandra Drought, Ruwan Wimalasundera, Susan Holder

Ultrasound

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