Disease: Limb-girdle muscular dystrophy
- <em>PYROXD1</em>-associated myopathy
- <em>SGCD</em> Missense Variant in a Lagotto Romagnolo Dog with Autosomal Recessively Inherited Limb-Girdle Muscular Dystrophy
- A Case of a Patient with Calpainopathy Carrying Compound Heterozygous Mutations of a de novo Pathogenic Variant of c.1333G>A and a Novel Variant of c.1331C>T in CAPN3
- 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 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 novel in-frame deletion in MYOT causes an early adult onset distal myopathy
- Agenesis of Pectoralis Major Muscle in Late-Onset <em>GFPT1</em>-Related Congenital Myasthenic Syndrome: A Case Report
- Altered expression of proteins involved in metabolism in LGMDR1 muscle is lost in cell culture conditions
- Analysis of clinical characteristics and genetic variants in two children with Limb-girdle muscular dystrophy autosomal recessive 9 FKRP-related
- Assessment of the quality of life in patients with LGMD. The case of transportinopathy
- Autosomal Recessive Limb-Girdle Muscular Dystrophy-3: A Case Report of a Patient with Autism Spectrum Disorder
- Beevor's Sign in Limb Girdle Dysferlinopathy Due to a Novel Mutation
- Biallelic variants in SNUPN cause a limb girdle muscular dystrophy with myofibrillar-like features
- Bone scan findings of Paget's disease of bone in patients with VCP Multisystem Proteinopathy 1
- Case report: A novel patient presenting TRIM32-related limb-girdle muscular dystrophy
- Caveolin-3 loss linked with the P104L LGMD-1C mutation modulates skeletal muscle mTORC1 signalling and cholesterol homeostasis
- Clinical and genetic characterisation of a large Indian congenital myasthenic syndrome cohort
- Clinical features, imaging findings and molecular data of limb-girdle muscular dystrophies in a cohort of Chinese patients
- Co-Occurrence of Myotonic Dystrophy Type 1 and Limb-Girdle Muscular Dystrophy Type 2B: A Case Report
- Cognitive abnormalities in Becker muscular dystrophy: a mysterious link between dystrophin deficiency and executive functions
- Combined sequence and copy number analysis improves diagnosis of limb girdle and other myopathies
- Comorbidity of bathing suit ichthyosis and limb-girdle muscular dystrophy type 2 A in a Tunisian patient revealed by Whole Exome Sequencing
- Considering the Promise of Vamorolone for Treating Duchenne Muscular Dystrophy
- CRISPR-Cas9 KO Cell Line Generation and Development of a Cell-Based Potency Assay for rAAV-FKRP Gene Therapy
- CRISPR/Cas9 Genome Editing in LGMD2A/R1 Patient-Derived Induced Pluripotent Stem and Skeletal Muscle Progenitor Cells
- Current Classification of Canine Muscular Dystrophies and Identification of New Variants
- Defining Clinical Endpoints in Limb Girdle Muscular Dystrophy: A GRASP-LGMD study
- 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
- Disease modeling and gene correction of LGMDR21 iPSCs elucidates the role of POGLUT1 in skeletal muscle maintenance, regeneration, and the satellite cell niche
- DNAJB6 mutants display toxic gain of function through unregulated interaction with Hsp70 chaperones
- 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
- Dysferlinopathy in Tunisia: clinical spectrum, genetic background and prognostic profile
- Effectiveness of conservative non-pharmacological interventions in people with muscular dystrophies: a systematic review and meta-analysis
- 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
- Family and literature analysis demonstrates phenotypic effect of two variants in the calpain-3 gene
- 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 findings in Czech patients with limb girdle muscular dystrophy
- Genetic Patterns of Selected Muscular Dystrophies in the Muscular Dystrophy Surveillance, Tracking, and Research Network
- Genetic screening of an endemic mutation in the DYSF gene in an isolated, mountainous population in the Republic of Dagestan
- Glycogen storage disease type IV without detectable polyglucosan bodies: importance of broad gene panels
- Health-Related Quality of Life in FKRP-Related Limb-Girdle Muscular Dystrophy R9
- 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 a shared, common haplotype segregating with an SGCB c.544 T > G mutation in Indian patients affected with sarcoglycanopathy
- Identification of novel pathogenic variants of Calpain-3 gene in limb girdle muscular dystrophy R1
- Improved efficacy of FKRP AAV gene therapy by combination with ribitol treatment for LGMD2I
- Insomnia and sleep-disordered breathing in FKRP-related limb-girdle muscular dystrophy R9. The Norwegian LGMDR9 cohort study (2020)
- Late-onset facioscapulohumeral muscular dystrophy type 1 in previously undiagnosed families: Presenting clinical features in an often-misdiagnosed disorder
- 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
- Loss of calpain 3 dysregulates store-operated calcium entry and its exercise response in mice
- Machine learning-based radiomics to differentiate immune-mediated necrotizing myopathy from limb-girdle muscular dystrophy R2 using MRI
- 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
- MicroRNAs as a Tool for Differential Diagnosis of Neuromuscular Disorders
- 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
- Modeling Sarcoglycanopathy in <em>Danio rerio</em>
- Molecular Diagnosis of Limb-Girdle Muscular Dystrophy Using Next-Generation Sequencing Panels
- msp1, msp2, and glurp genotyping to differentiate Plasmodium falciparum recrudescence from reinfections during prevention of reestablishment phase, Sri Lanka, 2014-2019
- Neuromuscular disease genetics in under-represented populations: increasing data diversity
- Neuromuscular disease genetics in underrepresented populations: increasing data diversity
- 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
- Novel mutations in the <em>SGCA</em> gene in unrelated Vietnamese patients with limb-girdle muscular dystrophies disease
- Novel mutations in the SGCA gene in unrelated Vietnamese patients with limb-girdle muscular dystrophies disease
- 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
- Patterns of Clinical Progression Among Patients With Autosomal Recessive Limb-Girdle Muscular Dystrophy: A Systematic Review
- Plectin Deficiency in Fibroblasts Deranges Intermediate Filament and Organelle Morphology, Migration, and Adhesion
- Portrait of Dysferlinopathy: Diagnosis and Development of Therapy
- Prognostic Utility of Cardiovascular Magnetic Resonance-Based Phenotyping in Patients With Muscular Dystrophy
- Ryanodine receptor type 1 content decrease-induced endoplasmic reticulum stress is a hallmark of myopathies
- SGCD Missense Variant in a Lagotto Romagnolo Dog with Autosomal Recessively Inherited Limb-Girdle Muscular Dystrophy
- Single-centre experience with autosomal recessive limb-girdle muscular dystrophy: case series and literature review
- SUMO protease SENP6 protects the nucleus from hyperSUMOylation-induced laminopathy-like alterations
- TCAP gene is not a common cause of cardiomyopathy in Iranian patients
- 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 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
- Therapeutic developments for valosin-containing protein mediated multisystem proteinopathy
- TRAPPC11-CDG muscular dystrophy: Review of 54 cases including a novel patient
- Tripartite Motif-Containing Protein 32 (TRIM32): What Does It Do for Skeletal Muscle?
- 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