• 4-Phenylbutyrate restores localization and membrane repair to human dysferlin mutations
• A Dysferlin Exon 32 Nonsense Mutant Mouse Model Shows Pathological Signs of Dysferlinopathy
• A female case report of LGMD2B with compound heterozygous mutations of the <em>DYSF</em> gene and asymptomatic mutation of the X-linked <em>DMD</em> gene
• A Journey with LGMD: From Protein Abnormalities to Patient Impact
• A new dysferlin gene mutation in a Portuguese family with Miyoshi myopathy
• A Novel Homozygous Variant in DYSF Gene Is Associated with Autosomal Recessive Limb Girdle Muscular Dystrophy R2/2B
• A rare case of dysferlinopathy with paternal isodisomy for chromosome 2 determined by exome sequencing
• Abnormal Expression of Dysferlin in Blood Monocytes Supports Primary Dysferlinopathy in Patients Confirmed by Genetic Analyses
• An in-frame pseudoexon activation caused by a novel deep-intronic variant in the dysferlin gene
• Analysis of genetic variants in five pedigrees affected with Dysferlinopathy
• Assessing Dysferlinopathy Patients Over Three Years With a New Motor Scale
• Assessing the impact of boldine on the gastrocnemius using multiomics profiling at 7 and 28 days post-complete spinal cord injury in young male mice
• Assessing the Relationship of Patient Reported Outcome Measures With Functional Status in Dysferlinopathy: A Rasch Analysis Approach
• Assessing the Role of Aquaporin 4 in Skeletal Muscle Function
• Beevor's Sign in Limb Girdle Dysferlinopathy Due to a Novel Mutation
• Bioengineered Model of Human LGMD2B Skeletal Muscle Reveals Roles of Intracellular Calcium Overload in Contractile and Metabolic Dysfunction in Dysferlinopathy
• Brain of miyoshi myopathy/dysferlinopathy patients presents with structural and metabolic anomalies
• 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
• Cardiac and pulmonary findings in dysferlinopathy: A 3-year, longitudinal study
• Clinical, Histopathologic, and Genetic Features of Patients With Myofibrillary and Distal Myopathies: Experience From the Italian Network
• Clinical, Neurophysiological, Radiological, Pathological, and Genetic Features of Dysferlinopathy in Saudi Arabia
• Clinicopathological Profile of Muscle Diseases Presenting the Adult Population in Northern India: Preliminary Analysis in a Limited Resource Setting
• Comparison of strength testing modalities in dysferlinopathy
• Considering the Promise of Vamorolone for Treating Duchenne Muscular Dystrophy
• Deep phenotyping of an international series of patients with late-onset dysferlinopathy
• Diagnosis of dysferlinopathy masked by a superimposed hypothyroid myopathy
• Differential Expression of Long Noncoding RNAs in Murine Myoblasts After Short Hairpin RNA-Mediated Dysferlin Silencing In Vitro: Microarray Profiling
• Differentiating idiopathic inflammatory myopathies by automated morphometric analysis of MHC-1, MHC-2 and ICAM-1 in muscle tissue
• Dual Adeno-Associated Virus 9 with Codon-Optimized DYSF Gene Promotes In Vivo Muscle Regeneration and May Decrease Inflammatory Response in Limb Girdle Muscular Dystrophy Type R2
• DYSF promotes monocyte activation in atherosclerotic cardiovascular disease as a DNA methylation-driven gene
• Dysferlin Deficiency Results in Myofiber-Type Specific Differences in Abundances of Calcium-Handling and Glycogen Metabolism Proteins
• Dysferlinopathies: Clinical and genetic variability
• Dysferlinopathy in a cohort of Chinese patients: clinical features, mutation spectrum, and imaging findings
• Dysferlinopathy in Tunisia: clinical spectrum, genetic background and prognostic profile
• Dysferlinopathy misdiagnosed with juvenile polymyositis in the pre-symptomatic stage of hyperCKemia: a case report and literature review
• Dysferlinopathy, with mild cardiac involvement, from a novel mutation of DYSF gene
• Effect of Dysferlin Deficiency on Atherosclerosis and Plasma Lipoprotein Composition Under Normal and Hyperlipidemic Conditions
• Elevated Ca²⁺ at the triad junction underlies dysregulation of Ca²⁺ signaling in dysferlin-null skeletal muscle
• Erratum: Serum exosomes can restore cellular function <em>in vitro</em> and be used for diagnosis in dysferlinopathy: Erratum
• Erratum: Serum exosomes can restore cellular function in vitro and be used for diagnosis in dysferlinopathy: Erratum
• Expanding the muscle imaging spectrum in dysferlinopathy: description of an outlier population from the classical MRI pattern
• Functional recovery of a novel knockin mouse model of dysferlinopathy by readthrough of nonsense mutation
• Genetic analysis of muscular dystrophies: our experience in Mexico
• Genetic Appraisal of Hereditary Muscle Disorders In A Cohort From Mumbai, India
• Genetic Profile of Patients with Limb-Girdle Muscle Weakness in the Chilean Population
• Genetic screening of an endemic mutation in the DYSF gene in an isolated, mountainous population in the Republic of Dagestan
• Genotype-phenotype correlation and natural history study of dysferlinopathy: a single-centre experience from India
• High Prevalence of a c.5979dupA Variant in the Dysferlin Gene (DYSF) in Individuals from a Semiarid Region of Brazil
• Identification of a novel heterozygous DYSF variant in a large family with a dominantly-inherited dysferlinopathy
• In Vivo DYSF Gene Viral Delivery Provides a Histoprotective Effect in Skeletal Muscle Tissue in Dysferlin-Deficient Mice
• Inhibition of the immunoproteasome modulates innate immunity to ameliorate muscle pathology of dysferlin-deficient BlAJ mice
• Key biomarkers and latent pathways of dysferlinopathy: Bioinformatics analysis and <em>in vivo</em> validation
• Key biomarkers and latent pathways of dysferlinopathy: Bioinformatics analysis and in vivo validation
• LGMD. Identification, description and classification
• Limb Girdle Muscular Dystrophy Type 2B (LGMD2B): Diagnosis and Therapeutic Possibilities
• Limb-Girdle Muscular Dystrophy Type 2B (LGMD2B) caused by Pathogenic Splice and Missense Variants of <em>DYSF</em> Gene among Iranians with Muscular Dystrophy
• Magnetic resonance imaging pattern variability in dysferlinopathy
• Magnetic resonance imaging-based criteria to differentiate dysferlinopathy from other genetic muscle diseases
• Minimal expression of dysferlin prevents development of dysferlinopathy in dysferlin exon 40a knockout mice
• Miyoshi Muscular Dystrophy Due to Novel Splice Site Variants in <em>DYSF</em> Gene
• Miyoshi Muscular Dystrophy Type 1 with Mutated <em>DYSF</em> Gene Misdiagnosed as Becker Muscular Dystrophy: A Case Report and Literature Review
• Miyoshi myopathy and limb girdle muscular dystrophy R2 are the same disease
• Miyoshi myopathy associated with spine rigidity and multiple contractures: a case report
• Molecular landscape of DYSF mutations in dysferlinopathy: From a Chinese multicenter analysis to a worldwide perspective
• Molecular Therapies of Hereditary Myopathies in Adulthood - a Cursive Overview
• Morpholino-Mediated Exons 28-29 Skipping of Dysferlin and Characterization of Multiexon-skipped Dysferlin using RT-PCR, Immunoblotting, and Membrane Wounding Assay
• Myostatin and follistatin as monitoring and prognostic biomarkers in dysferlinopathy
• On the role of dysferlin in striated muscle: membrane repair, t-tubules and Ca²⁺ handling
• Otoferlin as a multirole Ca²⁺ signaling protein: from inner ear synapses to cancer pathways
• Performance of upper limb entry item to predict forced vital capacity in dysferlin-deficient limb girdle muscular dystrophy
• Phenotypic and genotypic analysis of a patient with Miyoshi myopathy caused by truncated protein
• Pilot investigations into the mechanistic basis for adverse effects of glucocorticoids in dysferlinopathy
• Platelet Derived Growth Factor-AA Correlates With Muscle Function Tests and Quantitative Muscle Magnetic Resonance in Dystrophinopathies
• Portrait of Dysferlinopathy: Diagnosis and Development of Therapy
• Quantification of Intra-Muscular Adipose Infiltration in Calf/Thigh MRI Using Fully and Weakly Supervised Semantic Segmentation
• Reactive Changes in Elements of Stromal-Vascular Differons of Dysferlin-Deficient Skeletal Muscles after Procaine Injection
• Recurrent, non-traumatic, non-exertional rhabdomyolysis after immunologic stimuli in a healthy adolescent female: a case report
• Relative quantification of progressive changes in healthy and dysferlin-deficient mouse skeletal muscle proteomes
• Retrospective analysis and reclassification of DYSF variants in a large French series of dysferlinopathy patients
• Safety concerns surrounding AAV and CRISPR therapies in neuromuscular treatment
• Single-centre experience with autosomal recessive limb-girdle muscular dystrophy: case series and literature review
• Slow or fast: Implications of myofibre type and associated differences for manifestation of neuromuscular disorders
• Structural and ultrastructural changes in the skeletal muscles of dysferlin-deficient mice during postnatal ontogenesis
• Subclinical Cardiomyopathy in Miyoshi Myopathy Detected by Late Gadolinium Enhancement Cardiac Magnetic Resonance Imaging
• Tetraspanin CD82 Associates with Trafficking Vesicle in Muscle Cells and Binds to Dysferlin and Myoferlin
• The accumulation of muscle RING finger-1 in regenerating myofibers: Implications for muscle repair in immune-mediated necrotizing myopathy
• The clinical, myopathological, and molecular characteristics of 26 Chinese patients with dysferlinopathy: a high proportion of misdiagnosis and novel variants
• The Dysferlin Transcript Containing the Alternative Exon 40a is Essential for Myocyte Functions
• The Dysferlinopathies Conundrum: Clinical Spectra, Disease Mechanism and Genetic Approaches for Treatments
• The inflammatory pathology of dysferlinopathy is distinct from calpainopathy, Becker muscular dystrophy, and inflammatory myopathies
• Therapeutic Benefit of Galectin-1: Beyond Membrane Repair, a Multifaceted Approach to LGMD2B
• Three-dimensional mechanical characterization of murine skeletal muscle using quantitative micro-elastography
• Three-year quantitative magnetic resonance imaging and phosphorus magnetic resonance spectroscopy study in lower limb muscle in dysferlinopathy
• Transcriptome analysis of skeletal muscle in dermatomyositis, polymyositis, and dysferlinopathy, using a bioinformatics approach
• Two homozygous adjacent novel missense mutations in DYSF gene caused dysferlinopathy due to splicing abnormalities
• Unmet needs and evolving treatment for limb girdle muscular dystrophies
• Upregulation of the CD155-CD226 Axis Is Associated With Muscle Inflammation and Disease Severity in Idiopathic Inflammatory Myopathies
• Utilization of Targeted RNA-Seq for the Resolution of Variant Pathogenicity and Enhancement of Diagnostic Yield in Dysferlinopathy
• Validation of the North Star Assessment for Limb-Girdle Type Muscular Dystrophies
• Water T2 could predict functional decline in patients with dysferlinopathy