Disease: Rod myopathy
- 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