• A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry
• A Diagnostic Challenge in an Adolescent with Collagen VI-Related Myopathy and Emotional Disorder-Case Report
• A healthcare claims analysis to identify and characterize patients with suspected X-Linked Myotubular Myopathy (XLMTM) in the Brazilian Healthcare System
• A Mild But Typical Presentation of Bethlem Myopathy With a Novel In-Frame Deletion in <em>COL6A1</em>: Almost Overlooked
• A novel deep intronic variant in LAMA2 identified by RNA sequencing
• A novel homozygous nonsense variant in COL12A1 causes myopathic Ehlers-Danlos syndrome: A case report and literature review
• Agenesis of Pectoralis Major Muscle in Late-Onset <em>GFPT1</em>-Related Congenital Myasthenic Syndrome: A Case Report
• Agenesis of Pectoralis Major Muscle in Late-Onset GFPT1-Related Congenital Myasthenic Syndrome: A Case Report
• Allele-specific CRISPR-Cas9 editing inactivates a single nucleotide variant associated with collagen VI muscular dystrophy
• Allele-specific CRISPR/Cas9 editing inactivates a single nucleotide variant associated with collagen VI muscular dystrophy
• An Extremely Rare LAMA2 Gene Variant c.442C>T (p.Arg148Trp) Causing Late-Onset LAMA2-Related Dystrophy
• An International Retrospective Early Natural History Study of LAMA2-Related Dystrophies
• Anaesthesia management of a patient with Bethlem Myopathy for elective tonsillectomy: a case report
• Application of whole exome sequencing in the diagnosis of muscular disorders: a study of Taiwanese pediatric patients
• Assessing the Assisted Six-Minute Cycling Test as a Measure of Endurance in Non-Ambulatory Patients with Spinal Muscular Atrophy (SMA)
• Autosomal recessive limb girdle muscular dystrophy-type 5 (LGMDR-5)
• Bone quality in LAMA2-related muscular dystrophy and SELENON-related congenital myopathy, a one-year prospective natural history study
• Burden of rare genetic disorders in India: twenty-two years' experience of a tertiary centre
• Cardiac Involvement in LAMA2-Related Muscular Dystrophy and SELENON-Related Congenital Myopathy: A Case Series
• Cerebrospinal Fluid Proteomic Changes after Nusinersen in Patients with Spinal Muscular Atrophy
• Characterization of Proteome Changes in Aged and Collagen VI-Deficient Human Pericyte Cultures
• Clinical and genetic characterization of patients with eye diseases included in the Spanish Rare Diseases Patient Registry
• Clinical and Genetic Heterogeneity of Nuclear Envelopathy Related Muscular Dystrophies in an Indian Cohort
• Clinical Reasoning: A 19-Month-Old Girl With Infantile-Onset Myopathy and White Matter Changes
• Clinical, Histopathologic, and Genetic Features of Patients With Myofibrillary and Distal Myopathies: Experience From the Italian Network
• Clinicopathological Profile of Muscle Diseases Presenting the Adult Population in Northern India: Preliminary Analysis in a Limited Resource Setting
• Co-occurrence of CAPN3 homozygous mutation and CCTG expansion in the CNBP gene in a patient with muscular dystrophy
• COL12A1 Gene Variant and a Review of the Literature: A Case Report of Ullrich Congenital Muscular Dystrophy
• Collagen VI Deficiency Impairs Tendon Fibroblasts Mechanoresponse in Ullrich Congenital Muscular Dystrophy
• Collagen XII-Related Myopathy: An Emerging Spectrum of Extracellular Matrix-Related Myopathy
• Comorbidity of bathing suit ichthyosis and limb-girdle muscular dystrophy type 2 A in a Tunisian patient revealed by Whole Exome Sequencing
• Compound Heterozygous Variants of GOSR2 Associated With Congenital Muscular Dystrophy and Progressive Myoclonus Epilepsy: A Case Report
• Congenital LMNA-Related Muscular Dystrophy in Paediatrics: Cardiac Management in Monozygotic Twins
• Current understanding of Duchenne muscular dystrophy - a purported interview with a purported expert
• Detecting missed diagnoses of spinal muscular atrophy in genome, exome, and panel sequencing datasets
• Endogenous reductase activities for the generation of ribitol-phosphate, a CDP-ribitol precursor, in mammals
• Evaluation of the Dysfunctional Scapula
• Expanding the Phenotype of Hereditary Congenital Facial Paresis Type 3
• Expanding the phenotypic and genotypic spectrum of GGPS1 related congenital muscular dystrophy
• 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
• Feasibility of multimodal therapy for rhabdomyosarcoma in a patient with Fukuyama congenital muscular dystrophy
• Generation of a lymphoblastoid-derived induced pluripotent stem cell line (CBRCULi015-A) from a patient with congenital myotonic dystrophy
• Generation of human induced pluripotent stem cell line derived from Becker muscular dystrophy patient with CRISPR/Cas9-mediated correction of DMD gene mutation
• Generation of human induced pluripotent stem cell lines from five patients with Myofibrillar myopathy carrying different heterozygous mutations in the DES gene
• Generation of induced pluripotent stem cell lines from pediatric patients with congenital myotonic dystrophy (CBRCULi012-A and CBRCULi013-A) and age-matched controls (CBRCULi010-A and CBRCULi011-A)
• Genetic blueprint of congenital muscular dystrophies with brain malformations in Egypt: A report of 11 families
• Genetic Patterns of Selected Muscular Dystrophies in the Muscular Dystrophy Surveillance, Tracking, and Research Network
• Genetic profile of Brazilian patients with LAMA2-related dystrophies
• Identification of <em>LAMA2</em> compound heterozygous variants: a case report
• Improved efficacy of FKRP AAV gene therapy by combination with ribitol treatment for LGMD2I
• Improving Diagnostic Precision: Phenotype-Driven Analysis Uncovers a Maternal Mosaicism in an Individual with RYR1-Congenital Myopathy
• Inhibitory CCK+ basket synapse defects in mouse models of dystroglycanopathy
• Knockdown of INPP5K compromises the differentiation of N2A cells
• Lama1 upregulation prolongs the lifespan of the dy(H)/dy(H) mouse model of LAMA2-related congenital muscular dystrophy
• Left ventricular strain-volume loops and myocardial fibrosis in pediatric patients with Duchenne muscular dystrophy
• Lysosomal dysfunction and overload of nucleosides in thymidine phosphorylase deficiency of MNGIE
• Main features and disease outcome of congenital myotonic dystrophy - experience from a single tertiary center
• Megaconial congenital muscular dystrophy: Importance of cutaneous features and successful response to ustekinumab
• Microtubular network and functionality of the striated skeletal muscle
• 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
• Muscle Mass as a Biomarker for Health Status and Function in Pediatric Individuals with Neuromuscular Disabilities: A Systematic Review
• Mutations in PTPN11 could lead to a congenital myasthenic syndrome phenotype: a Noonan syndrome case series
• Myelin abnormalities in merosin-deficient congenital muscular dystrophy
• Neurobehavioral Phenotype of Children With Congenital Myotonic Dystrophy
• No beneficial use of the wearable cardioverter defibrillator among patients suffering from inherited and congenital heart disease: data from a European multicenter registry
• Novel mutation leading to splice donor loss in a conserved site of DMD gene causes Duchenne muscular dystrophy with cryptorchidism
• Optimized allele-specific silencing of the dominant-negative COL6A1 G293R substitution causing collagen VI-related dystrophy
• Optimizing Embryo Collection for Application of CRISPR/Cas9 System and Generation of Fukutin Knockout Rat Using This Method
• Partial loss of desmin expression due to a leaky splice site variant in the human DES gene is associated with neuromuscular transmission defects
• Pearls & Oy-sters: Use of Muscle Ultrasound as a Clinical Tool in INPP5K-Related Muscular Dystrophy: A Case Report
• Phase 1 Open-Label Study of Omigapil in Patients With LAMA2- or COL6-Related Dystrophy
• Phenotype-genotype spectrum of a cohort of congenital muscular dystrophies: a single-centre experience from India
• Pneumatosis Cystoides Intestinalis in Muscular Dystrophy and Congenital Myopathies: A Report of Five Cases
• Prevalence and Classification of Pediatric Neuromuscular Disorders in the Central Region of Portugal
• Prevalence and severity of sinus tachycardia and arrhythmias by Holter monitoring in children with Duchenne muscular dystrophy
• Proteomic characterization of human LMNA-related congenital muscular dystrophy muscle cells
• Rare disease research workflow using multilayer networks elucidates the molecular determinants of severity in Congenital Myasthenic Syndromes
• Removal of pomt1 in zebrafish leads to loss of α-dystroglycan glycosylation and dystroglycanopathy phenotypes
• Resilience in patients and family caregivers living with congenital disorders of glycosylation (CDG): a quantitative study using the brief resilience coping scale (BRCS)
• Respiratory function in LAMA2-related muscular dystrophy and SELENON-related congenital myopathy, a 1.5-year natural history study
• Retrospective clinical and genetic analysis of COL6-RD patients with a long-term follow-up at a single French center
• Ryanodine receptor dysfunction causes senescence and fibrosis in Duchenne dilated cardiomyopathy
• Safety and efficacy of gene replacement therapy for X-linked myotubular myopathy (ASPIRO): a multinational, open-label, dose-escalation trial
• Secondary mitochondrial dysfunction across the spectrum of hereditary and acquired muscle disorders
• Skin biopsy findings in megaconial congenital muscular dystrophy with psoriasiform lesions due to variants in CHKB
• Splicing Switching of Alternative Last Exons Due to a Deletion Including Canonical Polyadenylation Site in <em>COL6A2</em> Gene Causes Recessive UCMD
• Spontaneous mutation in the COL6A2 gene causing Ullrich congenital muscular dystrophy type 1 in a Chinese child: A case report
• Strategies to improve safety profile of AAV vectors
• Strategies to improve the design of gapmer antisense oligonucleotide on allele-specific silencing
• Successful Sequential Liver and Isolated Intestine Transplantation for Mitochondrial Neurogastrointestinal Encephalopathy Syndrome: A Case Report
• Tamoxifen may contribute to preserve cardiac function in Duchenne muscular dystrophy
• Teratogenesis, Perinatal, and Neurodevelopmental Outcomes After In Utero Exposure to Antiseizure Medication: Practice Guideline From the AAN, AES, and SMFM
• 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
• Timed rolling and rising tests in Duchenne muscular dystrophy ambulant boys: a feasibility study
• TRAPPC11-CDG muscular dystrophy: Review of 54 cases including a novel patient
• Variants in <em>CLCN1</em> and <em>PDE4C</em> Associated with Muscle Hypertrophy, Dysphagia, and Gait Abnormalities in Young French Bulldogs
• What is in the Myopathy Literature?
• Zebrafish and cellular models of <em>SELENON</em>-Related Myopathy exhibit novel embryonic and metabolic phenotypes