• A Case of Obsessive-Compulsive Disorder Comorbid with Miyoshi Myopathy
• A new dysferlin gene mutation in a Portuguese family with Miyoshi myopathy
• A novel ANO5 splicing variant in a LGMD2L patient leads to production of a truncated aggregation-prone Ano5 peptide
• A novel dysferlin gene mutation in a Filipino male with Miyoshi myopathy
• A Novel Homozygous Variant in DYSF Gene Is Associated with Autosomal Recessive Limb Girdle Muscular Dystrophy R2/2B
• Age-Specific Clinical Features of Pediatric Malignant Hyperthermia: A Review of 187 Cases Over 60 Years in Japan
• An Overview of Recent Advances and Clinical Applications of Exon Skipping and Splice Modulation for Muscular Dystrophy and Various Genetic Diseases
• Annexins and Membrane Repair Dysfunctions in Muscular Dystrophies
• Anoctamin 5 (ANO5) Muscle Disorders: A Narrative Review
• Anoctamin 5 (ANO5) muscular dystrophy-three different phenotypes and a new histological pattern
• Anoctamin 5 Knockout Mouse Model Recapitulates LGMD2L Muscle Pathology and Offers Insight Into in vivo Functional Deficits
• Anoctamin-5 Muscular Dystrophy: Report of Two Cases with Different Phenotypes and Genotypes from the Indian Subcontinent
• Atypical Miyoshi distal myopathy: A case report
• Autosomal recessive limb-girdle and Miyoshi muscular dystrophies in the Netherlands: The clinical and molecular spectrum of 244 patients
• Brain of miyoshi myopathy/dysferlinopathy patients presents with structural and metabolic anomalies
• Calf heads on a trophy sign: Miyoshi myopathy
• 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 spectrum and gene mutations in a Chinese cohort with anoctaminopathy
• Clinical, Neurophysiological, Radiological, Pathological, and Genetic Features of Dysferlinopathy in Saudi Arabia
• Completely Video-assisted Thoracoscopic Lobectomy for Congenital Lobar Emphysema in a Young Adult
• Correction of pseudoexon splicing caused by a novel intronic dysferlin mutation
• Corrigendum: Twenty-Year Clinical Progression of Dysferlinopathy in Patients from Dagestan
• Coupling of excitation to Ca²⁺ release is modulated by dysferlin
• Defective membrane fusion and repair in Anoctamin5-deficient muscular dystrophy
• Deficiency of Anoctamin 5/TMEM16E causes nuclear positioning defect and impairs Ca²⁺ signaling of differentiated C2C12 myotubes
• Designing Effective Antisense Oligonucleotides for Exon Skipping
• Development of muscular dystrophy in a CRISPR-engineered mutant rabbit model with frame-disrupting ANO5 mutations
• Diltiazem improves contractile properties of skeletal muscle in dysferlin-deficient BLAJ mice, but does not reduce contraction-induced muscle damage
• Discordant manifestation in brothers with Miyoshi myopathy
• Dysferlin Binds SNAREs (Soluble N-Ethylmaleimide-sensitive Factor (NSF) Attachment Protein Receptors) and Stimulates Membrane Fusion in a Calcium-sensitive Manner
• 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 mutations and mitochondrial dysfunction
• Dysferlinopathies: Clinical and genetic variability
• Dysferlinopathy Fibroblasts Are Defective in Plasma Membrane Repair
• Dysferlinopathy in Iran: Clinical and genetic report
• Dysferlinopathy in Switzerland: clinical phenotypes and potential founder effects
• Dysferlinopathy in Tunisia: clinical spectrum, genetic background and prognostic profile
• Efficient ssODN-Mediated Targeting by Avoiding Cellular Inhibitory RNAs through Precomplexed CRISPR-Cas9/sgRNA Ribonucleoprotein
• Eggshell membrane modulates gut microbiota to prevent murine pre-cachexia through suppression of T helper cell differentiation
• EHBP1L1, an apicobasal polarity regulator, is critical for nuclear polarization during enucleation of erythroblasts
• Exon 32 Skipping of Dysferlin Rescues Membrane Repair in Patients' Cells
• Functional muscle hypertrophy by increased insulin-like growth factor 1 does not require dysferlin
• Functional recovery of a novel knockin mouse model of dysferlinopathy by readthrough of nonsense mutation
• Functions of Vertebrate Ferlins
• Genetic disruption of Ano5 in mice does not recapitulate human ANO5-deficient muscular dystrophy
• Genotype-phenotype correlation and natural history study of dysferlinopathy: a single-centre experience from India
• Glycerophospholipid profile alterations are associated with murine muscle-wasting phenotype
• High Prevalence of a c.5979dupA Variant in the Dysferlin Gene (DYSF) in Individuals from a Semiarid Region of Brazil
• Hyperckemia and myalgia are common presentations of anoctamin-5-related myopathy in French patients
• Hypertrophic Cardiomyopathy Complicated by Post-COVID-19 Myopericarditis in Patient with <em>ANO5</em>-Related Distal Myopathy
• Icing after skeletal muscle injury decreases M1 macrophage accumulation and TNF-α expression during the early phase of muscle regeneration in rats
• Icing after skeletal muscle injury with necrosis in a small fraction of myofibers limits inducible nitric oxide synthase-expressing macrophage invasion and facilitates muscle regeneration
• 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
• Intensive Teenage Activity Is Associated With Greater Muscle Hyperintensity on T1W Magnetic Resonance Imaging in Adults With Dysferlinopathy
• Limb Girdle Muscular Dystrophy Type 2B (LGMD2B): Diagnosis and Therapeutic Possibilities
• Limb-Girdle Muscular Dystrophy 2B and Miyoshi Presentations of Dysferlinopathy
• Magnetic resonance imaging pattern variability in dysferlinopathy
• Membrane repair of human skeletal muscle cells requires Annexin-A5
• 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
• Modeling muscular diseases by patient-derived iPS cells
• Molecular mechanisms underlying the formation and maintenance of neuromuscular junctions and a possible therapeutic approach.
• Morpholino-Mediated Exons 28-29 Skipping of Dysferlin and Characterization of Multiexon-skipped Dysferlin using RT-PCR, Immunoblotting, and Membrane Wounding Assay
• MS1/MMD1 homologues in the moss Physcomitrium patens are required for male and female gametogenesis
• Muscle Cells Fix Breaches by Orchestrating a Membrane Repair Ballet
• Mutation at a new allele of the dysferlin gene causes Miyoshi myopathy: A case report
• Myostatin and follistatin as monitoring and prognostic biomarkers in dysferlinopathy
• Novel duplication mutation of the DYSF gene in a Pakistani family with Miyoshi Myopathy
• Novel, de novo dysferlin gene mutations in a patient with Miyoshi myopathy
• Null variants in DYSF result in earlier symptom onset
• Pathogenic mutation R959W alters recognition dynamics of dysferlin inner DysF domain
• 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
• Phenotypic Drug Screening for Dysferlinopathy Using Patient-Derived Induced Pluripotent Stem Cells
• Phenotypic Spectrum of Myopathies with Recessive Anoctamin-5 Mutations
• Polymyositis without Beneficial Response to Steroid Therapy: Should Miyoshi Myopathy be a Differential Diagnosis?
• Portrait of Dysferlinopathy: Diagnosis and Development of Therapy
• 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 Aortic Calcification as a Complication of Dermatomyositis
• Recurrent, non-traumatic, non-exertional rhabdomyolysis after immunologic stimuli in a healthy adolescent female: a case report
• Respiratory and cardiac function in japanese patients with dysferlinopathy
• 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 C2 domains of dysferlin: roles in membrane localization, Ca²⁺ signalling and sarcolemmal repair
• The Clinical Outcome Study for dysferlinopathy: An international multicenter study
• The clinical, myopathological, and molecular characteristics of 26 Chinese patients with dysferlinopathy: a high proportion of misdiagnosis and novel variants
• The Dysferlin C2A Domain Binds PI(4,5)P2 and Penetrates Membranes
• The Dysferlinopathies Conundrum: Clinical Spectra, Disease Mechanism and Genetic Approaches for Treatments
• The genetic profile of dysferlinopathy in a cohort of 209 cases: Genotype-phenotype relationship and a hotspot on the inner DysF domain
• Tips to Design Effective Splice-Switching Antisense Oligonucleotides for Exon Skipping and Exon Inclusion
• Twenty-Year Clinical Progression of Dysferlinopathy in Patients from Dagestan
• Urinary prostaglandin metabolites as Duchenne muscular dystrophy progression markers
• Utilization of Targeted RNA-Seq for the Resolution of Variant Pathogenicity and Enhancement of Diagnostic Yield in Dysferlinopathy