•  A novel variant in the tropomyosin 3 gene presenting as an adult-onset distal myopathy - a case report
• A brief history of the congenital myopathies - the myopathological perspective
• A Case of a Newborn With Nemaline Myopathy From Al-Qunfudhah City, Saudi Arabia
• A case of acute hypercapnic respiratory failure secondary to late onset nemaline rod myopathy: A multi-disciplinary approach
• A Laing distal myopathy-associated proline substitution in the beta-myosin rod perturbs myosin cross-bridging activity
• 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 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
• A therapeutic leap: how myosin inhibitors moved from cardiac interventions to skeletal muscle myopathy solutions
• Aberrations in Energetic Metabolism and Stress-Related Pathways Contribute to Pathophysiology in the Neb Conditional Knockout Mouse Model of Nemaline Myopathy
• Actin Polymerization Defects Induce Mitochondrial Dysfunction in Cellular Models of Nemaline Myopathies
• Anesthetic management for surgery in a nemaline myopathy patient with difficult airway: A CARE-compliant case report
• Arrhythmias in patients with X-linked myotubular myopathy
• Autophagy increase in Merosin-Deficient Congenital Muscular Dystrophy type 1A
• Case report: A novel ACTA1 variant in a patient with nemaline rods and increased glycogen deposition
• Case report: Homozygous variants of <em>NEB</em> and <em>KLHL40</em> in two Arab patients with nemaline myopathy
• Case report: identification of one frameshift variant and two <em>in cis</em> non-canonical splice variants of <em>NEB</em> gene in prenatal arthrogryposis
• Characterization of NEB pathogenic variants in patients reveals novel nemaline myopathy disease mechanisms and omecamtiv mecarbil force effects
• Childhood-Onset Myopathy With Preserved Ambulation Caused by a Recurrent <em>ADSSL1</em> Missense Variant
• Childhood-Onset Myopathy With Preserved Ambulation Caused by a Recurrent ADSSL1 Missense Variant
• Clinical and molecular analysis of nine fetal cases with clinically significant variants causing nemaline myopathy
• Clinico-pathological and gene features of 15 nemaline myopathy patients from a single Chinese neuromuscular center
• Comprehensive phenotypic characterization of an allelic series of zebrafish models of NEB-related nemaline myopathy
• Congenital myopathies
• Danon Disease: Entire <em>LAMP2</em> Gene Deletion with Unusual Clinical Presentation-Case Report and Review of the Literature
• Detecting impaired muscle relaxation in myopathies with the use of motor cortical stimulation
• Different Mouse Models of Nemaline Myopathy Harboring Acta1 Mutations Display Differing Abnormalities Related to Mitochondrial Biology
• Distinct effects of two hearing loss-associated mutations in the sarcomeric myosin MYH7b
• Dynamic regulation of inter-organelle communication by ubiquitylation controls skeletal muscle development and disease onset
• Early diagnosis and treatment by newborn screening (NBS) or family history is associated with improved visual outcomes for long-chain 3-hydroxyacylCoA dehydrogenase deficiency (LCHADD) chorioretinopathy
• 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
• Feline dystrophin-deficient muscular dystrophy misdiagnosed as <em>Toxoplasma</em> myositis
• Filamin C-Associated Nemaline Myopathy
• Haplotype information of large neuromuscular disease genes provided by linked-read sequencing has a potential to increase diagnostic yield
• HIV-associated nemaline myopathy manifesting as bent spine syndrome
• HTLV-1-associated myelopathy/tropical spastic paraplegia with sporadic late-onset nemaline myopathy: a case report
• Inspiratory Muscle Training in Nemaline Myopathy
• 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
• Marked neuropsychiatric involvement and dysmorphic features in nemaline myopathy
• Morphological and functional alterations of neuromuscular synapses in a mouse model of ACTA1 congenital myopathy
• Muscle cofilin alters neuromuscular junction postsynaptic development to strengthen functional neurotransmission
• Muscle magnetic resonance imaging involvement patterns in nemaline myopathies
• Nemaline Myopathy With a Compound Heterozygous Mutation: A Case Report
• Nemaline myopathy: reclassification of previously reported variants according to ACMG guidelines, and report of novel genetic variants
• 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 variant in ACTA1 identified in a fetus with akinesia deformation sequence and cortical development delay
• Pathogenic <em>TNNI1</em> variants disrupt sarcomere contractility resulting in hypo- and hypercontractile muscle disease
• Pediatric Nemaline Myopathy: A Systematic Review Using Individual Patient Data
• 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
• Pneumatosis Cystoides Intestinalis in Muscular Dystrophy and Congenital Myopathies: A Report of Five Cases
• Self-reported functioning among patients with ultra-rare nemaline myopathy or a related disorder in Finland: a pilot study
• Sporadic late onset nemaline myopathy with concurrent dermatological symptoms responding to immunosuppressive treatment
• Sporadic Late-Onset Nemaline Myopathy: Current Landscape
• Tirasemtiv enhances submaximal muscle tension in an Acta1:p.Asp286Gly mouse model of nemaline myopathy
• Treatment responsive glycogen storage myopathy in a patient with POEMS syndrome: A new monoclonal gammopathy-associated myopathy (MGAM)
• Treatment-responsive glycogen storage myopathy in a patient with POEMS syndrome: A new monoclonal gammopathy-associated myopathy
• Variants in tropomyosins TPM2 and TPM3 causing muscle hypertonia