Disease: Limb-girdle muscular dystrophy with delta-sarcoglyan deficiency
- <em>N</em>-Acetylcysteine Reduces Skeletal Muscles Oxidative Stress and Improves Grip Strength in Dysferlin-Deficient Bla/J Mice
- <em>Tcap</em> Deficiency in Zebrafish Leads to ROS Production and Mitophagy, and Idebenone Improves its Phenotypes
- A cryptic intronic LAMA2 insertion in a boy with mild congenital muscular dystrophy type 1A
- A knock down strategy for rapid, generic, and versatile modelling of muscular dystrophies in 3D-tissue-engineered-skeletal muscle
- A male patient with adult-onset sporadic calpainopathy presenting with hypertrophy of the upper extremities
- A novel <em>de novo</em> variant of <em>LAMA2</em> contributes to merosin deficient congenital muscular dystrophy type 1A: Case report
- A novel de novo variant of LAMA2 contributes to merosin deficient congenital muscular dystrophy type 1A: Case report
- A Small-Molecule Approach to Restore a Slow-Oxidative Phenotype and Defective CaMKIIbeta Signaling in Limb Girdle Muscular Dystrophy
- A Small-Molecule Approach to Restore a Slow-Oxidative Phenotype and Defective CaMKIIβ Signaling in Limb Girdle Muscular Dystrophy
- A TOR1AIP1 variant segregating with an early onset limb girdle myasthenia-Support for the role of LAP1 in NMJ function and disease
- Adult-onset very-long-chain acyl-CoA dehydrogenase deficiency (VLCADD)
- Allosteric Modulation of GSK-3beta as a New Therapeutic Approach in Limb Girdle Muscular Dystrophy R1 Calpain 3-Related
- Allosteric Modulation of GSK-3β as a New Therapeutic Approach in Limb Girdle Muscular Dystrophy R1 Calpain 3-Related
- AMPK Complex Activation Promotes Sarcolemmal Repair in Dysferlinopathy
- ANO5 ensures trafficking of annexins in wounded myofibers
- Anoctamin 5 Knockout Mouse Model Recapitulates LGMD2L Muscle Pathology and Offers Insight Into in vivo Functional Deficits
- Blockade of Hemichannels Normalizes the Differentiation Fate of Myoblasts and Features of Skeletal Muscles from Dysferlin-Deficient Mice
- BVES is a novel interactor of ANO5 and regulates myoblast differentiation
- Calpainopathies: state of the art and therapeutic perspectives
- Case report: 'AARS2 leukodystrophy'
- Caveolin 3 suppresses phosphorylation-dependent activation of sarcolemmal nNOS
- Caveolin-3 deficiency associated with the dystrophy P104L mutation impairs skeletal muscle mitochondrial form and function
- Caveolin-3 loss linked with the P104L LGMD-1C mutation modulates skeletal muscle mTORC1 signalling and cholesterol homeostasis
- Cholesterol absorption blocker ezetimibe prevents muscle wasting in severe dysferlin-deficient and mdx mice
- Cognitive abnormalities in Becker muscular dystrophy: a mysterious link between dystrophin deficiency and executive functions
- Contraction-Induced Loss of Plasmalemmal Electrophysiological Function Is Dependent on the Dystrophin Glycoprotein Complex
- CRISPR-Cas9 KO Cell Line Generation and Development of a Cell-Based Potency Assay for rAAV-FKRP Gene Therapy
- Current Classification of Canine Muscular Dystrophies and Identification of New Variants
- Defective autophagy and increased apoptosis contribute toward the pathogenesis of FKRP-associated muscular dystrophies
- Deficiency of Anoctamin 5/TMEM16E causes nuclear positioning defect and impairs Ca(2+) signaling of differentiated C2C12 myotubes
- Deficiency of Anoctamin 5/TMEM16E causes nuclear positioning defect and impairs Ca<sup>2+</sup> signaling of differentiated C2C12 myotubes
- Deficiency of emerin contributes differently to the pathogenesis of skeletal and cardiac muscles in LmnaH222P/H222P mutant mice
- Deficiency of nuclear receptor interaction protein leads to cardiomyopathy by disrupting sarcomere structure and mitochondrial respiration
- Diagnostic muscle biopsies in the era of genetics: the added value of myopathology in a selection of limb-girdle muscular dystrophy patients
- Disease-associated mutations within the yeast DNAJB6 homolog Sis1 slow conformer-specific substrate processing and can be corrected by the modulation of nucleotide exchange factors
- 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
- Dysferlin Deficiency Results in Myofiber-Type Specific Differences in Abundances of Calcium-Handling and Glycogen Metabolism Proteins
- Dysferlin-deficient myotubes show tethering of different membrane compartments characterized by TMEM16E and DHPRalpha
- Dysferlin-deficient myotubes show tethering of different membrane compartments characterized by TMEM16E and DHPRα
- Endoplasmic reticulum maintains ion homeostasis required for plasma membrane repair
- Epilepsy in LAMA2-related muscular dystrophy: A systematic review of the literature
- European muscle MRI study in limb girdle muscular dystrophy type R1/2A (LGMDR1/LGMD2A)
- Evaluating Therapeutic Activity of Galectin-1 in Sarcolemma Repair of Skeletal Muscle
- Expanding the phenotypic spectrum of <em>TRAPPC11-</em>related muscular dystrophy: 25 Roma individuals carrying a founder variant
- Expanding the phenotypic spectrum of TRAPPC11-related muscular dystrophy: 25 Roma individuals carrying a founder variant
- FKRP-dependent glycosylation of fibronectin regulates muscle pathology in muscular dystrophy
- Frizzled related protein deficiency impairs muscle strength, gait and calpain 3 levels
- Gene therapy with bidridistrogene xeboparvovec for limb-girdle muscular dystrophy type 2E/R4: phase 1/2 trial results
- Generation of Calpain-3 knock-out porcine embryos by CRISPR-Cas9 electroporation and intracytoplasmic microinjection of oocytes before insemination
- Genetic cause of heterogeneous inherited myopathies in a cohort of Greek patients
- Genetic screening of an endemic mutation in the DYSF gene in an isolated, mountainous population in the Republic of Dagestan
- Genetic variations and clinical spectrum of dystroglycanopathy in a large cohort of Chinese patients
- Genetically confirmed limb-girdle muscular dystrophy type 2B with DYSF mutation using gene panel sequencing: A case report
- Genetics and muscle pathology in the diagnosis of muscular dystrophies: An update
- Glycogenin-1 deficiency mimicking limb-girdle muscular dystrophy
- Homozygous TRAPPC11 truncating variant revealing segmental uniparental disomy of chromosome 4 as a cause of a recessive limb-girdle muscular dystrophy-18
- 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
- Insights into lipid accumulation in skeletal muscle in dysferlin-deficient mice
- Intermittent abdominal pressure ventilation: feasibility and efficacy in neuromuscular disease. A case report
- Involvement of muscle satellite cell dysfunction in neuromuscular disorders: Expanding the portfolio of satellite cell-opathies
- LAMA2-Related Dystrophies: Clinical Phenotypes, Disease Biomarkers, and Clinical Trial Readiness
- Limb girdle muscular dystrophy 23 caused by compound heterozygous mutations of <em>LAMA2</em> gene
- Limb girdle muscular dystrophy 23 caused by compound heterozygous mutations of LAMA2 gene
- Limb girdle muscular dystrophy due to <em>LAMA2</em> gene mutations: new mutations expand the clinical spectrum of a still challenging diagnosis
- Limb girdle muscular dystrophy due to LAMA2 gene mutations: new mutations expand the clinical spectrum of a still challenging diagnosis
- Limb-girdle muscular dystrophy type 2B causes HDL-C abnormalities in patients and statin-resistant muscle wasting in dysferlin-deficient mice
- Loss of calpain 3 dysregulates store-operated calcium entry and its exercise response in mice
- Loss of calpains-1 and -2 prevents repair of plasma membrane scrape injuries, but not small pores, and induces a severe muscular dystrophy
- Minimal Consequences of CMAH and DBA/2 Backgrounds on a FKRP Deficient Model
- Minimal expression of dysferlin prevents development of dysferlinopathy in dysferlin exon 40a knockout mice
- 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
- Mitochondrial dysfunction and consequences in calpain-3-deficient muscle
- Muscle-Related Plectinopathies
- Myofibers deficient in connexins 43 and 45 expression protect mice from skeletal muscle and systemic dysfunction promoted by a dysferlin mutation
- N-Acetylcysteine Reduces Skeletal Muscles Oxidative Stress and Improves Grip Strength in Dysferlin-Deficient Bla/J Mice
- Next-generation sequencing identified a novel DYSF variant in a patient with limb-girdle muscular dystrophy type 2B: A case report
- Nintedanib Reduces Muscle Fibrosis and Improves Muscle Function of the Alpha-Sarcoglycan-Deficient Mice
- Novel mutation identification and copy number variant detection via exome sequencing in congenital muscular dystrophy
- Nutritional intervention with cyanidin hinders the progression of muscular dystrophy
- Plasmid-Mediated Gene Therapy in Mouse Models of Limb Girdle Muscular Dystrophy
- Plectin Deficiency in Fibroblasts Deranges Intermediate Filament and Organelle Morphology, Migration, and Adhesion
- Portrait of Dysferlinopathy: Diagnosis and Development of Therapy
- Provisional practice recommendation for the management of myopathy in VCP-associated multisystem proteinopathy
- Sarcoglycanopathies: state of the art and therapeutic perspectives
- Sex differences in the involvement of skeletal and cardiac muscles in myopathic <em>Ano5<sup>-/-</sup></em> mice
- 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
- Targeting the Ubiquitin-Proteasome System in Limb-Girdle Muscular Dystrophy With CAPN3 Mutations
- Tcap Deficiency in Zebrafish Leads to ROS Production and Mitophagy, and Idebenone Improves its Phenotypes
- TCAP gene is not a common cause of cardiomyopathy in Iranian patients
- The effects of concentric and eccentric training in murine models of dysferlin-associated muscular dystrophy
- The extracellular matrix differentially directs myoblast motility and differentiation in distinct forms of muscular dystrophy: Dystrophic matrices alter myoblast motility
- 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
- Titin splicing regulates cardiotoxicity associated with calpain 3 gene therapy for limb-girdle muscular dystrophy type 2A
- TRAPPC11-CDG muscular dystrophy: Review of 54 cases including a novel patient
- Treatment with galectin-1 improves myogenic potential and membrane repair in dysferlin-deficient models
- Unique Clinical, Radiological and Histopathological Characteristics of a Southeast Asian Cohort of Patients with Limb-Girdle Muscular Dystrophy 2G/LGMD-R7-Telethonin-Related