• A brief history of the congenital myopathies - the myopathological perspective
• A case report of central core disease with repeated foaming at the mouth as the initial symptom
• A centronuclear myopathy-causing mutation in dynamin-2 disrupts neuronal morphology and excitatory synaptic transmission in a murine model of the disease
• A healthcare claims analysis to identify and characterize patients with suspected X-Linked Myotubular Myopathy (XLMTM) in the Brazilian Healthcare System
• A nemaline myopathy-linked mutation inhibits the actin-regulatory functions of tropomodulin and leiomodin
• A Novel Variant in <em>TPM3</em> Causing Muscle Weakness and Concomitant Hypercontractile Phenotype
• A Possible Case of Centronuclear Myopathy: A Case Report
• A rare TNNT1 gene variant causing creatine kinase elevation in nemaline myopathy: c.271_273del (p.Lys91del)
• A recurrent ACTA1 amino acid change in mosaic form causes milder asymmetric myopathy
• Aberrations in Energetic Metabolism and Stress-Related Pathways Contribute to Pathophysiology in the Neb Conditional Knockout Mouse Model of Nemaline Myopathy
• An unusual way to improve lung function in congenital myopathies: the power of singing
• Anaesthetic management of caesarean section in a patient with myofibrillar myopathy
• Anesthetic management for surgery in a nemaline myopathy patient with difficult airway: A CARE-compliant case report
• Antioxidants restore store-operated Ca(2+) entry in patient-iPSC-derived myotubes with tubular aggregate myopathy-associated Ile484ArgfsX21 STIM1 mutation via upregulation of binding immunoglobulin protein
• Antioxidants restore store-operated Ca²⁺ entry in patient-iPSC-derived myotubes with tubular aggregate myopathy-associated Ile484ArgfsX21 STIM1 mutation via upregulation of binding immunoglobulin protein
• Arrhythmias in patients with X-linked myotubular myopathy
• Characterization of NEB pathogenic variants in patients reveals novel nemaline myopathy disease mechanisms and omecamtiv mecarbil force effects
• Clinical and molecular analysis of nine fetal cases with clinically significant variants causing nemaline myopathy
• Clinical characteristics and genetic analysis of two children with X-linked Centronuclear myopathy due to variants of MTM1 gene
• Clinical features and genetic analysis of a child with Central core disease due to compound heterozygous variants of RYR1 gene
• Clinico-pathological and gene features of 15 nemaline myopathy patients from a single Chinese neuromuscular center
• Collagen VI Deficiency Impairs Tendon Fibroblasts Mechanoresponse in Ullrich Congenital Muscular Dystrophy
• Comprehensive phenotypic characterization of an allelic series of zebrafish models of NEB-related nemaline myopathy
• Congenital Myasthenic Syndromes
• Congenital myopathies
• Cylindrical spirals and other concentric structures of skeletal muscle in patients with neurological diseases
• Deep Characterization of a Greek Patient with Desmin-Related Myofibrillar Myopathy and Cardiomyopathy
• Different Mouse Models of Nemaline Myopathy Harboring Acta1 Mutations Display Differing Abnormalities Related to Mitochondrial Biology
• Dynamic regulation of inter-organelle communication by ubiquitylation controls skeletal muscle development and disease onset
• Dynamics of membrane tubulation coupled with fission by a two-component module
• Early-Onset Autosomal Dominant Myopathy with Vacuolated Fibers and Tubular Aggregates but No Periodic Paralysis, in a Patient with the c.1583G>A (p.R528H) mutation in the CACNA1S Gene
• Effects of gene replacement therapy with resamirigene bilparvovec (AT132) on skeletal muscle pathology in X-linked myotubular myopathy: results from a substudy of the ASPIRO open-label clinical trial
• Establishment of an induced pluripotent stem cell (iPSC) line (INNDSUi004-A) from a patient with Congenital Nemaline Myopathy
• Exome sequencing in undiagnosed congenital myopathy reveals new genes and refines genes-phenotypes correlations
• Extremely thinning ribs in severe congenital myopathy
• Filamin C-Associated Nemaline Myopathy
• Gene therapy for X-linked myotubular myopathy: the challenges
• Generation of human induced pluripotent stem cell lines from five patients with Myofibrillar myopathy carrying different heterozygous mutations in the DES gene
• Generation of two induced pluripotent stem cell lines from a 33-year-old central core disease patient with a heterozygous dominant c.14145_14156delCTACTGGGACA (p.Asn4715_Asp4718del) deletion in the RYR1 gene
• Generation of two iPSC lines from adult central core disease patients with dominant missense variants in the RYR1 gene
• Generation of two iPSC lines from patients with inherited central core disease and concurrent malignant hyperthermia caused by dominant missense variants in the RYR1 gene
• Haplotype information of large neuromuscular disease genes provided by linked-read sequencing has a potential to increase diagnostic yield
• High-throughput transcriptome analyses from ASPIRO, a phase 1/2/3 study of gene replacement therapy for X-linked myotubular myopathy
• HIV-associated nemaline myopathy manifesting as bent spine syndrome
• Human Mutated <em>MYOT</em> and <em>CRYAB</em> Genes Cause a Myopathic Phenotype in Zebrafish
• Identification of a novel variant in a patient with Calsequestrin 1 related myopathy
• Indications for Tube Feeding in Adults with Muscular Disorders: A Scoping Review
• Inspiratory Muscle Training in Nemaline Myopathy
• Interplay between myotubularins and Ca²⁺ homeostasis
• KLHL40-Related Myopathy: A Systematic Review and Insight into a Follow-up Biomarker via a New Case Report
• L-tyrosine for treatment of an infant with nemaline rod myopathy
• Late-onset sporadic nemaline myopathy presenting as hypercapnic respiratory failure
• Loss of Mtm1 causes cholestatic liver disease in a model of X-linked myotubular myopathy
• Marked neuropsychiatric involvement and dysmorphic features in nemaline myopathy
• Mechanism study of tyrosine phosphatase shp-1 in inhibiting hepatocellular carcinoma progression by regulating the SHP2/GM-CSF pathway in TAMs
• Microtubular network and functionality of the striated skeletal muscle
• Morphological and functional alterations of neuromuscular synapses in a mouse model of ACTA1 congenital myopathy
• MTM1 overexpression prevents and reverts BIN1-related centronuclear myopathy
• Muscle cofilin alters neuromuscular junction postsynaptic development to strengthen functional neurotransmission
• Myofibrillar myopathies due to a novel mutation in exon 8 of the LDB3 gene
• Myofibrillar myopathy hallmarks associated with ZAK deficiency
• Nemaline myopathy: reclassification of previously reported variants according to ACMG guidelines, and report of novel genetic variants
• Neonatal X-linked myotubular myopathy with a de novo mutation: A case report and literature review
• New Clinical and Immunofluoresence Data of Collagen VI-Related Myopathy: A Single Center Cohort of 69 Patients
• Novel Compound Heterozygous Splice-Site Variants in TPM3 Revealed by RNA Sequencing in a Patient with an Unusual Form of Nemaline Myopathy: A Case Report
• Novel p.Asp27Glu ACTA1 variant features congenital myopathy with finger flexor weakness, cardiomyopathy, and cardiac conduction defects
• Novel TUBA4A variant causes congenital myopathy with focal myofibrillar disorganisation
• Novel variant in ACTA1 identified in a fetus with akinesia deformation sequence and cortical development delay
• One transgene, two myopathies: an MTM1 'cross gene therapy' for BIN1 deficiency?
• ORAI1 inhibition as an efficient preclinical therapy for tubular aggregate myopathy and Stormorken syndrome
• Orthognathic surgery in RYR1-related congenital myopathy: a patient report
• Pathogenic DPAGT1 variants in limb-girdle congenital myasthenic syndrome (LG-CMS) associated with tubular aggregates and ORAI1 hypoglycosylation
• Peripheral thickening of the sarcomeres and pointed end elongation of the thin filaments are both promoted by SALS and its formin interaction partners
• Pharmacological Inhibition of Myostatin in a Mouse Model of Typical Nemaline Myopathy Increases Muscle Size and Force
• PI3KC2beta: A promising therapeutic target in myotubular myopathy
• PI3KC2β: A promising therapeutic target in myotubular myopathy
• Prognostic Value of Genotype-Phenotype Correlations in X-Linked Myotubular Myopathy and the Use of the Face2Gene Application as an Effective Non-Invasive Diagnostic Tool
• Proximal myopathy: causes and associated conditions
• Respiratory features of centronuclear myopathy in the Netherlands
• Safety and efficacy of gene replacement therapy for X-linked myotubular myopathy (ASPIRO): a multinational, open-label, dose-escalation trial
• Self-reported functioning among patients with ultra-rare nemaline myopathy or a related disorder in Finland: a pilot study
• Shaping transverse-tubules: central mechanisms that play a role in the cytosol zoning for muscle contraction
• Sporadic late onset nemaline myopathy with concurrent dermatological symptoms responding to immunosuppressive treatment
• Sporadic Late-Onset Nemaline Myopathy: Current Landscape
• STIM1: A new player in nuclear dynamics? Lessons learnt from tubular aggregate myopathy
• TAM-associated CASQ1 mutants diminish intracellular Ca²⁺ content and interfere with regulation of SOCE
• The dynamin-2-gene related centronuclear myopathy
• The Effects of Aging on Sarcoplasmic Reticulum-Related Factors in the Skeletal Muscle of Mice
• The experience of clinical study and trial participation in rare diseases: A scoping review of centronuclear myopathy and other neuromuscular disorders
• The Genetic Background of Abnormalities in Metabolic Pathways of Phosphoinositides and Their Linkage with the Myotubular Myopathies, Neurodegenerative Disorders, and Carcinogenesis
• The myotubular and centronuclear myopathy patient registry: a multifunctional tool for translational research
• The PI3KC2beta kinase as a therapeutic target for myotubular myopathy
• The Structural-Functional Crosstalk of the Calsequestrin System: Insights and Pathological Implications
• Tirasemtiv enhances submaximal muscle tension in an Acta1:p.Asp286Gly mouse model of nemaline myopathy
• Tubular aggregate myopathy causing progressive fatiguable weakness
• Uncovering the BIN1-SH3 interactome underpinning centronuclear myopathy
• Variants in tropomyosins TPM2 and TPM3 causing muscle hypertonia
• Voluntary wheel running mitigates disease in an Orai1 gain-of-function mouse model of tubular aggregate myopathy
• Walking with giants: The challenges of variant impact assessment in the giant sarcomeric protein titin
• Whole exome sequencing discloses a pathogenic MTM1 gene mutation in a continuous polyhydramnios family in China: Case report and literature review