• A case of congenital fiber-type disproportion syndrome presenting dilated cardiomyopathy with ACTA1 mutation
• A new homozygous missense variant in LMOD3 gene causing mild nemaline myopathy with prominent facial weakness
• A pathogenic mechanism associated with myopathies and structural birth defects involves TPM2-directed myogenesis
• Adult-onset nemaline myopathy due to a novel homozygous variant in the TNNT1 gene
• Clinical and molecular analysis of four unrelated Chinese families with pathogenic KLHL40 variants causing nemaline myopathy 8
• Clinicopathologic Profiles of Sporadic Late-Onset Nemaline Myopathy: Practical Importance of Anti-α-Actinin Immunostaining
• Detecting impaired muscle relaxation in myopathies with the use of motor cortical stimulation
• Establishment of a human induced pluripotent stem cell line (SDQLCHi004-A) from a patient with nemaline myopathy-4 disease carrying heterozygous mutation in TPM2 gene
• Exon skipping caused by splicing mutation in TNNT1 nemaline myopathy
• Involvement of muscle satellite cell dysfunction in neuromuscular disorders: Expanding the portfolio of satellite cell-opathies
• Kyphoscoliosis and easy fatigability in a 14-year-old boy
• Nemaline Myopathy in Brazilian Patients: Molecular and Clinical Characterization
• 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
• Observations of nemaline bodies in muscle biopsies of critically ill patients infected with SARS-CoV-2
• Respiratory muscle function in patients with nemaline myopathy
• Sporadic late onset nemaline myopathy with concurrent dermatological symptoms responding to immunosuppressive treatment
• Structural and functional analysis of actin point mutations leading to nemaline myopathy to elucidate their role in actin function