• <em>PYROXD1</em>-associated myopathy
• A Case of a Patient with Calpainopathy Carrying Compound Heterozygous Mutations of a de novo Pathogenic Variant of c.1333G&gt;A and a Novel Variant of c.1331C&gt;T in CAPN3
• A knock down strategy for rapid, generic, and versatile modelling of muscular dystrophies in 3D-tissue-engineered-skeletal muscle
• A novel homozygous variant (c.5876T > C: p. Leu1959Pro) in DYSF segregates with limb-girdle muscular dystrophy: a case report
• A retrospective study on the clinical and molecular outcomes of calpainopathy in a Turkish patient cohort
• Absence of Pathogenic Mutations and Strong Association With HLA-DRB1*11:01 in Statin-Naïve Early-Onset Anti-HMGCR Necrotizing Myopathy
• Advanced therapeutic approaches in sarcoglycanopathies
• Agenesis of Pectoralis Major Muscle in Late-Onset <em>GFPT1</em>-Related Congenital Myasthenic Syndrome: A Case Report
• An Extremely Rare LAMA2 Gene Variant c.442C>T (p.Arg148Trp) Causing Late-Onset LAMA2-Related Dystrophy
• 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
• Assessment of the quality of life in patients with LGMD. The case of transportinopathy
• Autosomal recessive limb girdle muscular dystrophy-type 5 (LGMDR-5)
• Biallelic variants in SNUPN cause a limb girdle muscular dystrophy with myofibrillar-like features
• Bioengineered Model of Human LGMD2B Skeletal Muscle Reveals Roles of Intracellular Calcium Overload in Contractile and Metabolic Dysfunction in Dysferlinopathy
• Bone scan findings of Paget's disease of bone in patients with VCP Multisystem Proteinopathy 1
• Brain of miyoshi myopathy/dysferlinopathy patients presents with structural and metabolic anomalies
• Calpainopathy Can Manifest Itself in Not Only Skeletal Muscle but Also the Brain and Myocardium
• Case report: A novel patient presenting TRIM32-related limb-girdle muscular dystrophy
• Classification of Muscular Dystrophies from MR Images Improves Using the Swin Transformer Deep Learning Model
• Clinical and Genetic Heterogeneity of Nuclear Envelopathy Related Muscular Dystrophies in an Indian Cohort
• Clinical and molecular characterization of limb-girdle muscular dystrophy 2G/R7 in a large cohort of Brazilian patients
• Clinical features, imaging findings and molecular data of limb-girdle muscular dystrophies in a cohort of Chinese patients
• Co-occurrence of CAPN3 homozygous mutation and CCTG expansion in the CNBP gene in a patient with muscular dystrophy
• Co-Occurrence of Myotonic Dystrophy Type 1 and Limb-Girdle Muscular Dystrophy Type 2B: A Case Report
• Comorbidity of bathing suit ichthyosis and limb-girdle muscular dystrophy type 2 A in a Tunisian patient revealed by Whole Exome Sequencing
• Correction to: Validation of a novel western blot assay to monitor patterns and levels of alpha dystroglycan in skeletal muscle of patients with limb girdle muscular dystrophies
• CRISPR/Cas9 Genome Editing in LGMD2A/R1 Patient-Derived Induced Pluripotent Stem and Skeletal Muscle Progenitor Cells
• Cross-sectional study of patients with VCP multisystem proteinopathy 1 using dual-energy x-ray absorptiometry
• Defining clinical endpoints in limb girdle muscular dystrophy: a GRASP-LGMD study
• Development and Validation of an Outpatient Clinical Predictive Score for the Diagnosis of Duchenne Muscular Dystrophy/Becker Muscular Dystrophy in Children Aged 2-18 Years
• 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
• Effectiveness of conservative non-pharmacological interventions in people with muscular dystrophies: a systematic review and meta-analysis
• Effects of HMGCR deficiency on skeletal muscle development
• Efficacy of N-163 beta-glucan in beneficially improving biomarkers of relevance to muscle function in patients with muscular dystrophies in a pilot clinical study
• Engineered mischarged transfer RNAs for correcting pathogenic missense mutations
• Evaluation of Neuromuscular Diseases and Complaints by Quantitative Muscle MRI
• Exome sequencing revealed variants in SGCA and SIL1 genes underlying limb girdle muscular dystrophy and Marinesco-Sjogren syndrome patients
• Expanding the Clinical Phenotype of PLECTIN-Related Plectinopathies
• Expert Panel Curation of 31 Genes in Relation to Limb Girdle Muscular Dystrophy
• Exploring Splice-Site Mutations in LAMA2-Related Muscular Dystrophies: A Comprehensive Analysis of Genotypic and Phenotypic Patterns
• Gene therapy for primary myopathies: literature review and prospects
• Gene therapy with bidridistrogene xeboparvovec for limb-girdle muscular dystrophy type 2E/R4: phase 1/2 trial results
• Genetic Patterns of Selected Muscular Dystrophies in the Muscular Dystrophy Surveillance, Tracking, and Research Network
• Genetic spectrum of sarcoglycanopathies in a cohort of Russian patients
• High Prevalence of a c.5979dupA Variant in the Dysferlin Gene (DYSF) in Individuals from a Semiarid Region of Brazil
• HNRNPA2B1 myopathy presenting in a family with an early onset oculopharyngeal muscular dystrophy-like phenotype
• Hospital admissions from the emergency department of adult patients affected by myopathies
• Identification and functional characterization of a novel heterozygous splice-site mutation in the calpain 3 gene causes rare autosomal dominant limb-girdle muscular dystrophy
• Identification and functional characterization of a novel heterozygous splice‑site mutation in the calpain 3 gene causes rare autosomal dominant limb‑girdle muscular dystrophy
• Identification of <em>LAMA2</em> compound heterozygous variants: a case report
• Identification of novel pathogenic variants of Calpain-3 gene in limb girdle muscular dystrophy R1
• Limb Girdle Muscular Dystrophy Type 2B (LGMD2B): Diagnosis and Therapeutic Possibilities
• Loss of calpain 3 dysregulates store-operated calcium entry and its exercise response in mice
• Loss of Calpain 3 dysregulates store-operated calcium entry and its exercise response in mice
• Magnetic resonance imaging-based criteria to differentiate dysferlinopathy from other genetic muscle diseases
• Management of a 25-Year-Old Female Patient With Limb-Girdle Muscular Dystrophy With Physiotherapy: A Case Report
• MicroRNA as potential biomarker for severity, progression, and therapeutic monitoring in animal models of limb-girdle muscular dystrophy: a systematic review
• Mild limb girdle muscular dystrophy R9 phenotype caused by novel compound heterozygous FKRP gene mutation
• Misfolding of fukutin-related protein (FKRP) variants in congenital and limb girdle muscular dystrophies
• Mitochondrial abnormalities contribute to muscle weakness in a Dnajb6 deficient zebrafish model
• Miyoshi myopathy associated with spine rigidity and multiple contractures: a case report
• Molecular diagnosis of Alpha-sarcoglycanopathies by NGS in seven Moroccan families and report of two novel variants
• Molecular Diagnosis of Limb-Girdle Muscular Dystrophy Using Next-Generation Sequencing Panels
• MRI for the diagnosis of limb girdle muscular dystrophies
• msp1, msp2, and glurp genotyping to differentiate Plasmodium falciparum recrudescence from reinfections during prevention of reestablishment phase, Sri Lanka, 2014-2019
• Muscle ultrasound in myopathies
• Muscle-bone cross-talk through the FNIP1-TFEB-IGF2 axis is associated with bone metabolism in human and mouse
• Next generation sequencing panel as an effective approach to genetic testing in patients with a highly variable phenotype of neuromuscular disorders
• No beneficial use of the wearable cardioverter defibrillator among patients suffering from inherited and congenital heart disease: data from a European multicenter registry
• Non-viral delivery of nucleic acid for treatment of rare diseases of the muscle
• Novel Biomarkers for Limb Girdle Muscular Dystrophy (LGMD)
• Novel five nucleotide deletion in dysferlin leads to autosomal recessive limb-girdle muscular dystrophy
• Oral ribose supplementation in dystroglycanopathy: A single case study
• Partial loss of desmin expression due to a leaky splice site variant in the human DES gene is associated with neuromuscular transmission defects
• Participant experiences of guided self-help Acceptance and Commitment Therapy for improving quality of life in muscle disease: a nested qualitative study within the ACTMus randomized controlled trial
• Performance of upper limb entry item to predict forced vital capacity in dysferlin-deficient limb girdle muscular dystrophy
• Pilot investigations into the mechanistic basis for adverse effects of glucocorticoids in dysferlinopathy
• Prevalence and Classification of Pediatric Neuromuscular Disorders in the Central Region of Portugal
• Quantitative muscle magnetic resonance imaging in limb-girdle muscular dystrophy type R1 (LGMDR1): A prospective longitudinal cohort study
• RNA variant assessment using transactivation and transdifferentiation
• Ryanodine receptor type 1 content decrease-induced endoplasmic reticulum stress is a hallmark of myopathies
• Serum protein and imaging biomarkers after intermittent steroid treatment in muscular dystrophy
• Tertiary structure and conformational dynamics of the anti-amyloidogenic chaperone DNAJB6b at atomistic resolution
• The CAPN3 p.Lys 254del variant is not always associated with dominant CAPN3-related muscular dystrophy
• The Dysferlinopathies Conundrum: Clinical Spectra, Disease Mechanism and Genetic Approaches for Treatments
• The extracellular matrix differentially directs myoblast motility and differentiation in distinct forms of muscular dystrophy: Dystrophic matrices alter myoblast motility
• The Influence of a Genetic Variant in <em>CCDC78</em> on <em>LMNA</em>-Associated Skeletal Muscle Disease
• The Limb Girdle Muscular Dystrophy Health Index (LGMD-HI)
• The Profiling of 179 miRNA Expression in Serum from Limb Girdle Muscular Dystrophy Patients and Healthy Controls
• The recurrent deep intronic pseudoexon-inducing variant COL6A1 c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapy
• The super-healing MRL strain promotes muscle growth in muscular dystrophy through a regenerative extracellular matrix
• Three novel missense variants in two families with JAG2-associated limb-girdle muscular dystrophy
• Thrombospondin-4 deletion does not exacerbate muscular dystrophy in beta-sarcoglycan-deficient and laminin alpha2 chain-deficient mice
• TRAPPC11-CDG muscular dystrophy: Review of 54 cases including a novel patient
• TRIM32 inhibits Venezuelan Equine Encephalitis Virus Infection by targeting a late step in viral entry
• Two Novel Variants of the CAPN3 Gene in Chinese Patients with Limb-Girdle Muscular Dystrophy Recessive 1
• Unraveling facets of MECOM-associated syndrome: somatic genetic rescue, clonal hematopoiesis, and phenotype expansion
• Validation of a novel western blot assay to monitor patterns and levels of alpha dystroglycan in skeletal muscle of patients with limb girdle muscular dystrophies
• Valosin-Containing Protein (VCP)/p97 Oligomerization