Sage Journals: Discover world-class research

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

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

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

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

Free access

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 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

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

Open access

Review article

First published 2019

Advances in imaging of brain abnormalities in neuromuscular disease

Corrado Angelini, Elena Pinzan

Therapeutic Advances in Neurological Disorders

Free access

Research article

First published 2021-09-14

Minimal Consequences of CMAH and DBA/2 Backgrounds on a FKRP Deficient Model

Camille Vaubourg, Evelyne Gicquel, Isabelle Richard [...]

Journal of Neuromuscular Diseases

Search results