1. A patient with slowly progressive adult-onset nemaline myopathy and novel compound heterozygous mutations in the nebulin gene
   Keiichiro Tsunoda et al, 2017, Journal of the Neurological Sciences CrossRef
2. Clinico-pathological features and mutational spectrum of 16 nemaline myopathy patients from a Chinese neuromuscular center
   Xi Yin et al, 2022, Acta Neurologica Belgica CrossRef
3. Respiratory muscle function in patients with nemaline myopathy
   Esmee S.B. van Kleef et al, 2022, Neuromuscular Disorders CrossRef
4. Respiratory failure because of neuromuscular disease
   Robin S. Howard, 2016, Current Opinion in Neurology CrossRef
5. Mutational and clinical spectrum in a cohort of Chinese patients with hereditary nemaline myopathy
   Qi Wang et al, 2020, Clinical Genetics CrossRef
6. A Cross-Sectional Study of Nemaline Myopathy
   Kimberly Amburgey et al, 2021, Neurology CrossRef
7. A case of acute hypercapnic respiratory failure secondary to late onset nemaline rod myopathy: A multi-disciplinary approach
   Chandana Madala et al, 2024, Respiratory Medicine Case Reports CrossRef
8. α‐tropomyosin gene (TPM3) mutation in an infant with nemaline myopathy
   Sulaiman Almobarak et al, 2021, Clinical Case Reports CrossRef
9. The KLHL40 c.1516A>C is a Chinese‐specific founder mutation causing nemaline myopathy 8: Report of six patients with pre‐ and postnatal phenotypes
   Kit San Yeung et al, 2020, Molecular Genetics & Genomic Medicine CrossRef
10. Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes with coexisting nemaline myopathy: a case report
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11. Tirasemtiv enhances submaximal muscle tension in an Acta1:p.Asp286Gly mouse model of nemaline myopathy
    Ricardo A. Galli et al, 2024, Journal of General Physiology CrossRef
12. The de novo missense mutation N117S in skeletal muscle α-actin 1 causes a mild form of congenital nemaline myopathy
    Liu Yang et al, 2016, Molecular Medicine Reports CrossRef
13. Beyond the “Jewish panel”: the importance of offering expanded carrier screening to the Ashkenazi Jewish population
    Shelley Dolitsky et al, 2020, F&S Reports CrossRef
14. Myopathic Blepharoptoses: A New Classification System
    Michael Burnstine et al, 2019, Ophthalmic Plastic & Reconstructive Surgery CrossRef
15. KLHL40-Related Myopathy: A Systematic Review and Insight into a Follow-up Biomarker via a New Case Report
    Bianca Buchignani et al, 2024, Genes CrossRef
16. NEM6, KBTBD13-Related Congenital Myopathy: Myopathological Analysis in 18 Dutch Patients Reveals Ring Rods Fibers, Cores, Nuclear Clumps, and Granulo-Filamentous Protein Material
    Karlijn Bouman et al, 2021, Journal of Neuropathology & Experimental Neurology CrossRef
17. Craniofacial Manifestations in Severe Nemaline Myopathy
    Yunfeng Xue et al, 2017, Journal of Craniofacial Surgery CrossRef
18. Ophthalmological Manifestations of Hereditary Myopathies
    Marta Saint-Gerons et al, 2022, Journal of Binocular Vision and Ocular Motility CrossRef