Disease: Limb-girdle muscular dystrophy- type 2B
- A novel dysferlin mutant pseudoexon bypassed with antisense oligonucleotides
- A Novel Homozygous Variant in DYSF Gene Is Associated with Autosomal Recessive Limb Girdle Muscular Dystrophy R2/2B
- A Patient With Late-onset Limb-girdle Muscular Dystrophy Type 2B Mimicking Dermatomyositis: A Case Report and Review
- Abnormal lipid metabolism in skeletal muscle tissue of patients with muscular dystrophy: In vitro, high-resolution NMR spectroscopy based observation in early phase of the disease
- An Overview of Recent Advances and Clinical Applications of Exon Skipping and Splice Modulation for Muscular Dystrophy and Various Genetic Diseases
- Analysis of DYSF gene mutations in two pedigrees affected with limb-girdle muscular dystrophy type 2B
- Analysis of Dysferlin Direct Interactions with Putative Repair Proteins Links Apoptotic Signaling to Ca<sup>2+</sup> Elevation via PDCD6 and FKBP8
- Anesthetic management of a patient with limb-girdle muscular dystrophy 2B:CARE-compliant case report and literature review
- Angiotensin II receptor blocker losartan exacerbates muscle damage and exhibits weak blood pressure-lowering activity in a dysferlin-null model of Limb-Girdle muscular dystrophy type 2B
- Annexins and Membrane Repair Dysfunctions in Muscular Dystrophies
- Apolipoprotein E knockout, but not cholesteryl ester transfer protein (CETP)-associated high-density lipoprotein cholesterol (HDL-C) lowering, exacerbates muscle wasting in dysferlin-null mice
- Biasing the conformation of ELMO2 reveals that myoblast fusion can be exploited to improve muscle regeneration
- Bioengineered Model of Human LGMD2B Skeletal Muscle Reveals Roles of Intracellular Calcium Overload in Contractile and Metabolic Dysfunction in Dysferlinopathy
- Calpainopathy (Leyden-Mobius Limb-Girdle Muscular Dystrophy Type 2A Phenotype) and Dysferlinopathy (Miyoshi Distal Myopathy Limb-Girdle Muscular Dystrophy Type 2B Phenotype) of Preadolescent Onset: Case Reports of Two Male Filipinos
- Case report of an adolescent girl with limb-girdle muscular dystrophy type 2B - the usefulness of muscle protein immunostaining in the diagnosis of dysferlinopathies
- CD4+ cells, macrophages, MHC-I and C5b-9 involve the pathogenesis of dysferlinopathy
- Cholesterol absorption blocker ezetimibe prevents muscle wasting in severe dysferlin-deficient and mdx mice
- Circulating Biomarkers in Muscular Dystrophies: Disease and Therapy Monitoring
- Clinical features, imaging findings and molecular data of limb-girdle muscular dystrophies in a cohort of Chinese patients
- Clinical spectrum and genetic variations of <em>LMNA</em>-related muscular dystrophies in a large cohort of Chinese patients
- Clinical, pathological, imaging, and genetic characterization in a Taiwanese cohort with limb-girdle muscular dystrophy
- Co-Occurrence of Myotonic Dystrophy Type 1 and Limb-Girdle Muscular Dystrophy Type 2B: A Case Report
- Compound heterozygous DYSF variants causing limb-girdle muscular dystrophy type 2B in a Chinese family
- Correction of pseudoexon splicing caused by a novel intronic dysferlin mutation
- Coupling of excitation to Ca<sup>2+</sup> release is modulated by dysferlin
- Cross-sectional serum metabolomic study of multiple forms of muscular dystrophy
- Designing Effective Antisense Oligonucleotides for Exon Skipping
- Diagnosis of dysferlinopathy masked by a superimposed hypothyroid myopathy
- Dosage-Adjusted Resistance Training in Mice with a Reduced Risk of Muscle Damage
- Dysferlin aggregation in limb-girdle muscular dystrophy type 2B/Miyoshi Myopathy necessitates mutational screen for diagnosis [corrected]
- Dysferlin deficiency blunts β-adrenergic-dependent lusitropic function of mouse heart
- Dysferlin deficiency confers increased susceptibility to coxsackievirus-induced cardiomyopathy
- Dysferlin mediates membrane tubulation and links T-tubule biogenesis to muscular dystrophy
- Dysferlin-deficiency has greater impact on function of slow muscles, compared with fast, in aged BLAJ mice
- Dysferlinopathies: Clinical and genetic variability
- Dysferlinopathy Fibroblasts Are Defective in Plasma Membrane Repair
- Dysferlinopathy in Switzerland: clinical phenotypes and potential founder effects
- Dysferlinopathy in Tunisia: clinical spectrum, genetic background and prognostic profile
- Effects of Prednisone on a Patient with Dysferlinopathy Assessed by Maximal Voluntary Isometric Contraction: Alternate-Day Low-Dose Administration for a 17-Year Period
- Evaluating Therapeutic Activity of Galectin-1 in Sarcolemma Repair of Skeletal Muscle
- Evaluation of cardiomyopathy with two-dimensional speckle tracking echocardiography in limb-girdle muscular dystrophy type 2A and 2B
- Ferlins Show Tissue-Specific Expression and Segregate as Plasma Membrane/Late Endosomal or Trans-Golgi/Recycling Ferlins
- Fibroadipogenic progenitors are responsible for muscle loss in limb girdle muscular dystrophy 2B
- Full-length dysferlin expression driven by engineered human dystrophic blood derived CD133+ stem cells
- Functional recovery of a novel knockin mouse model of dysferlinopathy by readthrough of nonsense mutation
- Functions of Vertebrate Ferlins
- Gender difference in limb-girdle muscular dystrophy: a muscle fiber morphometric study in 101 patients
- Genetic variability in Iranian limb-girdle muscular dystrophy type 2B patients: An evidence of a founder effect
- Genetically confirmed limb-girdle muscular dystrophy type 2B with DYSF mutation using gene panel sequencing: A case report
- Hippo signaling pathway is altered in Duchenne muscular dystrophy
- Home-based gait analysis as an exploratory endpoint during a multicenter phase 1 trial in limb girdle muscular dystrophy type R2 and facioscapulohumeral muscular dystrophy
- Identification of Novel Antisense-Mediated Exon Skipping Targets in DYSF for Therapeutic Treatment of Dysferlinopathy
- Increased nonHDL cholesterol levels cause muscle wasting and ambulatory dysfunction in the mouse model of LGMD2B
- Inhibition of inflammation with celastrol fails to improve muscle function in dysferlin-deficient A/J mice
- Involvement of muscle satellite cell dysfunction in neuromuscular disorders: Expanding the portfolio of satellite cell-opathies
- Late-onset dysferlinopathy presented as "liver enzyme" abnormalities: a technical note
- LGMD. Identification, description and classification
- Limb Girdle Muscular Dystrophy Type 2B (LGMD2B): Diagnosis and Therapeutic Possibilities
- Limb girdle muscular dystrophy type 2B masquerading as inflammatory myopathy: case report
- Limb-Girdle Muscular Dystrophy 2B and Miyoshi Presentations of Dysferlinopathy
- Limb-Girdle Muscular Dystrophy Type 2B (LGMD2B) caused by Pathogenic Splice and Missense Variants of <em>DYSF</em> Gene among Iranians with Muscular Dystrophy
- Limb-Girdle Muscular Dystrophy Type 2B (LGMD2B) caused by Pathogenic Splice and Missense Variants of DYSF Gene among Iranians with Muscular Dystrophy
- Limb-girdle muscular dystrophy type 2B causes HDL-C abnormalities in patients and statin-resistant muscle wasting in dysferlin-deficient mice
- Limb-girdle muscular dystrophy type 2B misdiagnosed as polymyositis at the early stage: Case report and literature review
- Limb-girdle muscular dystrophy type 2B: An unusual cause of proximal muscular weakness in Saudi Arabia
- Lipid accumulation in dysferlin-deficient muscles
- Membrane repair of human skeletal muscle cells requires Annexin-A5
- Membrane Stabilization by Modified Steroid Offers a Potential Therapy for Muscular Dystrophy Due to Dysferlin Deficit
- MicroRNA signatures predict dysregulated vitamin D receptor and calcium pathways status in limb girdle muscle dystrophies (LGMD) 2A/2B
- Morpholino-Mediated Exons 28-29 Skipping of Dysferlin and Characterization of Multiexon-skipped Dysferlin using RT-PCR, Immunoblotting, and Membrane Wounding Assay
- Multiparametric quantitative MRI assessment of thigh muscles in limb-girdle muscular dystrophy 2A and 2B
- Muscle-Derived Proteins as Serum Biomarkers for Monitoring Disease Progression in Three Forms of Muscular Dystrophy
- New developments in exon skipping and splice modulation therapies for neuromuscular diseases
- Next-generation sequencing identified a novel DYSF variant in a patient with limb-girdle muscular dystrophy type 2B: A case report
- Null variants in DYSF result in earlier symptom onset
- Over three decades of natural history of limb girdle muscular dystrophy type R1/2A and R2/2B: Mathematical modelling of a multifactorial study
- Pathogenic mutation R959W alters recognition dynamics of dysferlin inner DysF domain
- Pathogenic Mutations in the C2A Domain of Dysferlin form Amyloid that Activates the Inflammasome
- Phenotypic and genotypic analysis of limb-Girdle muscular dystrophy type 2B
- Phenotypic Drug Screening for Dysferlinopathy Using Patient-Derived Induced Pluripotent Stem Cells
- Precise Correction of Disease Mutations in Induced Pluripotent Stem Cells Derived From Patients With Limb Girdle Muscular Dystrophy
- Progress and challenges in diagnosis of dysferlinopathy
- Progression to Loss of Ambulation Among Patients with Autosomal Recessive Limb-girdle Muscular Dystrophy: A Systematic Review
- Progressive muscular weakness of lower limbs revealing a limb girdle muscular dystrophy
- Proper Voltage-Dependent Ion Channel Function in Dysferlin-Deficient Cardiomyocytes
- Recurrent, non-traumatic, non-exertional rhabdomyolysis after immunologic stimuli in a healthy adolescent female: a case report
- Subclinical Cardiomyopathy in Miyoshi Myopathy Detected by Late Gadolinium Enhancement Cardiac Magnetic Resonance Imaging
- The genetic profile of dysferlinopathy in a cohort of 209 cases: Genotype-phenotype relationship and a hotspot on the inner DysF domain
- The Performance of Upper Limb (PUL) module in limb-girdle muscular dystrophy
- The significance of pathological spontaneous activity in various myopathies
- Therapeutic Benefit of Galectin-1: Beyond Membrane Repair, a Multifaceted Approach to LGMD2B
- Thermoneutral Housing and a Western Diet Combination Exacerbates Dysferlin-Deficient Muscular Dystrophy
- Three novel recessive DYSF mutations identified in three patients with muscular dystrophy, limb-girdle, type 2B
- Tips to Design Effective Splice-Switching Antisense Oligonucleotides for Exon Skipping and Exon Inclusion
- Transcriptomic Analysis Reveals Involvement of the Macrophage Migration Inhibitory Factor Gene Network in Duchenne Muscular Dystrophy
- Treatment with galectin-1 improves myogenic potential and membrane repair in dysferlin-deficient models
- Treatment with Recombinant Human MG53 Protein Increases Membrane Integrity in a Mouse Model of Limb Girdle Muscular Dystrophy 2B
- Twenty-Year Clinical Progression of Dysferlinopathy in Patients from Dagestan
- Validation of the North Star Assessment for Limb-Girdle Type Muscular Dystrophies
- Whole Transcriptome Analysis (RNA Sequencing) of Peripheral Blood Mononuclear Cells of Vitiligo Patients