Disease: Nemaline myopathy 5
- '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