Disease: Limb-girdle muscular dystrophy- type 2D
- 1st International Workshop on Clinical trial readiness for sarcoglycanopathies 15-16 November 2016, Evry, France
- A Journey with LGMD: From Protein Abnormalities to Patient Impact
- A new mutation of the SCGA gene is the cause of a late onset mild phenotype limb girdle muscular dystrophy type 2D with axial involvement
- A novel mutation in alpha sarcoglycan gene in an Iranian family with limb girdle muscular dystrophy 2D
- A rare form of limb girdle muscular dystrophy (type 2E) seen in an Iranian family detected by autozygosity mapping
- Aberrant Adenosine Triphosphate Release and Impairment of P2Y2-Mediated Signaling in Sarcoglycanopathies
- Advanced therapeutic approaches in sarcoglycanopathies
- Alpha-sarcoglycanopathy presenting as exercise intolerance and rhabdomyolysis in two adults
- Alpha-sarcoglycanopathy presenting as myalgia and hyperCKemia in two adults with a long-term follow-up. Case reports
- An AAV-SGCG Dose-Response Study in a γ-Sarcoglycanopathy Mouse Model in the Context of Mechanical Stress
- Antisense Morpholino-Based In Vitro Correction of a Pseudoexon-Generating Variant in the <em>SGCB</em> Gene
- Assessing the Role of Aquaporin 4 in Skeletal Muscle Function
- Beyond building proteins: tRNA synthetases outside of translation
- Childhood onset limb-girdle muscular dystrophies in the Aegean part of Turkey
- Circulating Biomarkers in Muscular Dystrophies: Disease and Therapy Monitoring
- Cleavage of β-dystroglycan occurs in sarcoglycan-deficient skeletal muscle without MMP-2 and MMP-9
- Clinical and genetic spectrum of a large cohort of patients with delta-sarcoglycan muscular dystrophy
- Clinical and genetic spectrum of a large cohort of patients with δ-sarcoglycan muscular dystrophy
- Clinical and genetic spectrum of sarcoglycanopathies in a large cohort of Chinese patients
- Clinical and Genomic Evaluation of 207 Genetic Myopathies in the Indian Subcontinent
- Clinical correlations and long-term follow-up in 100 patients with sarcoglycanopathies
- Clinical value of 99Tcm-MIBI gated myocardial perfusion imaging in evaluating sarcoglycanopathy
- Clinical, genetic profile and disease progression of sarcoglycanopathies in a large cohort from India: high prevalence of SGCB c.544A > C
- Clinical, genetic profile and disease progression of sarcoglycanopathies in a large cohort from India: high prevalence of SGCB c.544A > C
- Clinical, pathological, imaging, and genetic characterization in a Taiwanese cohort with limb-girdle muscular dystrophy
- Clinicogenetic lessons from 370 patients with autosomal recessive limb-girdle muscular dystrophy
- Collagen VI deficiency reduces muscle pathology, but does not improve muscle function, in the γ-sarcoglycan-null mouse
- Combined Use of CFTR Correctors in LGMD2D Myotubes Improves Sarcoglycan Complex Recovery
- Comprehensive functional characterization of SGCB coding variants predicts pathogenicity in limb-girdle muscular dystrophy type R4/2E
- Cross-sectional study into age-related pathology of mouse models for limb girdle muscular dystrophy types 2D and 2F
- Defining clinical endpoints in limb girdle muscular dystrophy: a GRASP-LGMD study
- Different outcome of sarcoglycan missense mutation between human and mouse
- eATP/P2X7R Axis: An Orchestrated Pathway Triggering Inflammasome Activation in Muscle Diseases
- Effects of Home Mechanical Ventilation on Left Ventricular Function in Sarcoglycanopathies (Limb Girdle Muscular Dystrophies)
- Efficient exon skipping of SGCG mutations mediated by phosphorodiamidate morpholino oligomers
- Elucidation of the Genetic Cause in Dutch Limb Girdle Muscular Dystrophy Families: A 27-Year's Journey
- Evaluation of cardiomyopathy with two-dimensional speckle tracking echocardiography in limb-girdle muscular dystrophy type 2A and 2B
- From the phenotype to precision medicine: an update on the cardiomyopathies diagnostic workflow
- Gene Delivery for Limb-Girdle Muscular Dystrophy Type 2D by Isolated Limb Infusion
- Gene therapy with bidridistrogene xeboparvovec for limb-girdle muscular dystrophy type 2E/R4: phase 1/2 trial results
- Genetic spectrum of sarcoglycanopathies in a cohort of Russian patients
- Genotype-phenotype correlations in alpha-sarcoglycanopathy: a systematic review
- Hypercapnia Alters Expression of Immune Response, Nucleosome Assembly and Lipid Metabolism Genes in Differentiated Human Bronchial Epithelial Cells
- Identification of a shared, common haplotype segregating with an SGCB c.544 T > G mutation in Indian patients affected with sarcoglycanopathy
- Identification of an intragenic deletion in the SGCB gene through a re-evaluation of negative next generation sequencing results
- Identification of thiostrepton as a pharmacological approach to rescue misfolded alpha-sarcoglycan mutant proteins from degradation
- Immunofluorescence signal intensity measurements as a semi-quantitative tool to assess sarcoglycan complex expression in muscle biopsy
- Immunohistochemistry of sarcolemmal membrane-associated proteins in formalin-fixed and paraffin-embedded skeletal muscle tissue: a promising tool for the diagnostic evaluation of common muscular dystrophies
- Intramyocardial Fat in Family With Limb-Girdle Muscular Dystrophy Type 2E Cardiomyopathy and Sudden Cardiac Death
- LGMD2D syndrome: the importance of clinical and molecular genetics in patient and family management. Case Report
- LGMD2E is the most common type of sarcoglycanopathies in the Iranian population
- Limb Girdle Muscular Dystrophy Type 2E Due to a Novel Large Deletion in SGCB Gene
- Limb-girdle Muscular Dystrophies in India: A Review
- Membrane repair of human skeletal muscle cells requires Annexin-A5
- Milder forms of α-sarcoglicanopathies diagnosed in adulthood by NGS analysis
- Modeling Sarcoglycanopathy in <em>Danio rerio</em>
- Molecular diagnosis of Alpha-sarcoglycanopathies by NGS in seven Moroccan families and report of two novel variants
- MRI in sarcoglycanopathies: a large international cohort study
- Muscle Diversity, Heterogeneity, and Gradients: Learning from Sarcoglycanopathies
- Muscle fatigue, nNOS and muscle fiber atrophy in limb girdle muscular dystrophy
- Muscle inflammatory pattern in alpha- and gamma-sarcoglycanopathies
- Nanospan, an alternatively spliced isoform of sarcospan, localizes to the sarcoplasmic reticulum in skeletal muscle and is absent in limb girdle muscular dystrophy 2F
- Natural disease history of mouse models for limb girdle muscular dystrophy types 2D and 2F
- Natural History of Cardiac and Respiratory Involvement, Prognosis and Predictive Factors for Long-Term Survival in Adult Patients with Limb Girdle Muscular Dystrophies Type 2C and 2D
- New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy
- Nintedanib Reduces Muscle Fibrosis and Improves Muscle Function of the Alpha-Sarcoglycan-Deficient Mice
- Nonmechanical Roles of Dystrophin and Associated Proteins in Exercise, Neuromuscular Junctions, and Brains
- Nutritional intervention with cyanidin hinders the progression of muscular dystrophy
- Precise Correction of Disease Mutations in Induced Pluripotent Stem Cells Derived From Patients With Limb Girdle Muscular Dystrophy
- Preclinical Systemic Delivery of Adeno-Associated alpha-Sarcoglycan Gene Transfer for Limb-Girdle Muscular Dystrophy
- Preclinical Systemic Delivery of Adeno-Associated α-Sarcoglycan Gene Transfer for Limb-Girdle Muscular Dystrophy
- Probable high prevalence of limb-girdle muscular dystrophy type 2D in Taiwan
- Quantitative Muscle MRI in Patients with Neuromuscular Diseases-Association of Muscle Proton Density Fat Fraction with Semi-Quantitative Grading of Fatty Infiltration and Muscle Strength at the Thigh Region
- Repairing folding-defective alpha-sarcoglycan mutants by CFTR correctors, a potential therapy for limb-girdle muscular dystrophy 2D
- Repairing folding-defective α-sarcoglycan mutants by CFTR correctors, a potential therapy for limb-girdle muscular dystrophy 2D
- RevAMP(K)ing Mitochondria for Sarcoglycanopathy Therapeutics
- Role of Regulatory T Cell and Effector T Cell Exhaustion in Liver-Mediated Transgene Tolerance in Muscle
- Sarcoglycan A mutation in miniature dachshund dogs causes limb-girdle muscular dystrophy 2D
- Sarcoglycanopathies: an update
- Sarcoglycanopathies: state of the art and therapeutic perspectives
- Serum proteomic profiling reveals fragments of MYOM3 as potential biomarkers for monitoring the outcome of therapeutic interventions in muscular dystrophies
- Severe murine limb-girdle muscular dystrophy type 2C pathology is diminished by FTY720 treatment
- Single-centre experience with autosomal recessive limb-girdle muscular dystrophy: case series and literature review
- Systemic AAV-Mediated β-Sarcoglycan Delivery Targeting Cardiac and Skeletal Muscle Ameliorates Histological and Functional Deficits in LGMD2E Mice
- Targeted next-generation sequencing determined a novel <em>SGCG</em> variant that is associated with limb-girdle muscular dystrophy type 2C: A case report
- Targeted next-generation sequencing determined a novel SGCG variant that is associated with limb-girdle muscular dystrophy type 2C: A case report
- The clinical spectrum and genetic variability of limb-girdle muscular dystrophy in a cohort of Chinese patients
- The Correlation Relationship between P14ARF Gene DNA Methylation and Primary Liver Cancer
- The P2X7 purinoceptor in pathogenesis and treatment of dystrophino- and sarcoglycanopathies
- The Role of P2X7 Purinoceptors in the Pathogenesis and Treatment of Muscular Dystrophies
- The therapeutic potential of soluble activin type IIB receptor treatment in a limb girdle muscular dystrophy type 2D mouse model
- Unmet needs and evolving treatment for limb girdle muscular dystrophies
- Untangling the complexity of limb-girdle muscular dystrophies
- Value of muscle magnetic resonance imaging in the differential diagnosis of muscular dystrophies related to the dystrophin-glycoprotein complex
- Value of structured reporting in neuromuscular disorders
- Variant analysis for a pedigree affected with limb-girdle muscular dystrophy type 2D
- Very late-onset limb-girdle muscular dystrophy type 2D: A milder form with a normal muscle biopsy
- Young girl presenting with exercise-induced myoglobinuria
- β-Sarcoglycan gene transfer decreases fibrosis and restores force in LGMD2E mice
- γ-sarcoglycan and dystrophin mutation spectrum in an Algerian cohort