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Research article

First published 2023-1-3

Unique Clinical,Radiological and Histopathological Characteristics of a Southeast Asian Cohort of Patients with Limb-Girdle Muscular Dystrophy 2G/LGMD-R7-Telethonin-Related

Zhiyong Chen, Monica Saini, Jasmine S. Koh [...]

Journal of Neuromuscular Diseases

Free access

Research article

First published 2021

Mutational Spectrum of CAPN3 with Genotype-Phenotype Correlations in Limb Girdle Muscular Dystrophy Type 2A/R1 (LGMD2A/LGMDR1) Patients in India

Pankaj Pathak, Mehar Chand Sharma, Pankaj Jha [...]

Journal of Neuromuscular Diseases

Retricted access

Research article

First published 2015-11

The Frequency of c.550delA Mutation of the CANP3 Gene in the Polish LGMD2A Population

Małgorzata Dorobek, Barbara Ryniewicz, Dagmara Kabzińska [...]

Genetic Testing and Molecular Biomarkers

Free access

Research article

First published 2019

Identification of a Novel Deep Intronic Mutation in CAPN3 Presenting a Promising Target for Therapeutic Splice Modulation

Ying Hu, Payam Mohassel, Sandra Donkervoort [...]

Journal of Neuromuscular Diseases

Free access

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 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 2021-11-30

Anoctamin 5 Knockout Mouse Model Recapitulates LGMD2L Muscle Pathology and Offers Insight Into in vivo Functional Deficits

Girija Thiruvengadam, Sen Chandra Sreetama, Karine Charton [...]

Journal of Neuromuscular Diseases

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Unique Clinical,Radiological and Histopathological Characteristics of a Southeast Asian Cohort of Patients with Limb-Girdle Muscular Dystrophy 2G/LGMD-R7-Telethonin-Related

Mutational Spectrum of CAPN3 with Genotype-Phenotype Correlations in Limb Girdle Muscular Dystrophy Type 2A/R1 (LGMD2A/LGMDR1) Patients in India

The Frequency of c.550delA Mutation of the CANP3 Gene in the Polish LGMD2A Population

Identification of a Novel Deep Intronic Mutation in CAPN3 Presenting a Promising Target for Therapeutic Splice Modulation

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

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

Anoctamin 5 Knockout Mouse Model Recapitulates LGMD2L Muscle Pathology and Offers Insight Into in vivo Functional Deficits