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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

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

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 2014-06

Adeno-Associated Virus-Mediated Overexpression of LARGE Rescues α-Dystroglycan Function in Dystrophic Mice with Mutations in the Fukutin-Related Protein

Charles H. Vannoy, Lei Xu, Elizabeth Keramaris [...]

Human Gene Therapy Methods (Part B)

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

Free access

Research article

First published 2022-01-04

Distinct and Recognisable Muscle MRI Pattern in a Series of Adults Harbouring an Identical GMPPB Gene Mutation

Shahyan Siddiqui, Kiran Polavarapu, Mainak Bardhan [...]

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 2021-11-30

Revertant Phenomenon in DMD and LGMD2I and Its Therapeutic Implications: A Review of Study Under Mentorship of Terrence Partridge

Qi Long Lu

Journal of Neuromuscular Diseases

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