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Research article

First published 2008-11

Muscle Protein Alterations in LGMD2I Patients With Different Mutations in the Fukutin-related Protein Gene

Lydia U. Yamamoto, Fernando J. Velloso, Bruno L. Lima [...]

Journal of Histochemistry & Cytochemistry

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

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 2014-3

Elevated Serum Creatine Kinase and Small Cerebellum Prompt Diagnosis of Congenital Muscular Dystrophy due to FKRP Mutations

Rosanna Trovato, Guja Astrea, Laura Bartalena [...]

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

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

Research article

First published 2024-01-02

Health-Related Quality of Life in FKRP-Related Limb-Girdle Muscular Dystrophy R9

Synnøve M. Jensen, Oddgeir Friborg, Svein Ivar Mellgren [...]

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

Open access

Research article

First published 2023-07-04

Phenotype Genotype Characterization of FKRP -related Muscular Dystrophy among Indian Patients

Gopikrishnan Unnikrishnan, Kiran Polavarapu, Mainak Bardhan [...]

Journal of Neuromuscular Diseases

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