• 'Amish Nemaline Myopathy' in 2 Italian siblings harbouring a novel homozygous mutation in Troponin-I gene
• A custom ddPCR method for the detection of copy number variations in the nebulin triplicate region
• Amish nemaline myopathy and dilated cardiomyopathy caused by a homozygous contiguous gene deletion of TNNT1 and TNNI3 in a Mennonite child
• Clinical and molecular analysis of four unrelated Chinese families with pathogenic KLHL40 variants causing nemaline myopathy 8
• Clinico-pathological and gene features of 15 nemaline myopathy patients from a single Chinese neuromuscular center
• Clinicopathologic Profiles of Sporadic Late-Onset Nemaline Myopathy: Practical Importance of Anti-α-Actinin Immunostaining
• Congenital myopathies in Israeli families
• Congenital myopathies: clinical and immunohistochemical study
• Congenital myopathies: The current status
• Deficiency of slow skeletal muscle troponin T causes atrophy of type I slow fibres and decreases tolerance to fatigue
• Detecting impaired muscle relaxation in myopathies with the use of motor cortical stimulation
• Identification of a novel nemaline myopathy-causing mutation in the troponin T1 (TNNT1) gene: a case outside of the old order Amish
• Inspiratory Muscle Training in Nemaline Myopathy
• Involvement of muscle satellite cell dysfunction in neuromuscular disorders: Expanding the portfolio of satellite cell-opathies
• Nemaline Myopathy in Brazilian Patients: Molecular and Clinical Characterization
• Nemaline myopathy--5 cases from 3 families--clinical and histological studies
• 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
• Spectrum of congenital myopathies: a single centre experience
• 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
• The loss of slow skeletal muscle isoform of troponin T in spindle intrafusal fibres explains the pathophysiology of Amish nemaline myopathy
• TNNT1 myopathy with novel compound heterozygous mutations