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. α‐tropomyosin gene (TPM3) mutation in an infant with nemaline myopathy
    Sulaiman Almobarak et al, 2021, Clinical Case Reports CrossRef
  8. 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
  9. 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
  10. 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
  11. Myopathic Blepharoptoses: A New Classification System
    Michael Burnstine et al, 2019, Ophthalmic Plastic & Reconstructive Surgery CrossRef
  12. 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
  13. Craniofacial Manifestations in Severe Nemaline Myopathy
    Yunfeng Xue et al, 2017, Journal of Craniofacial Surgery CrossRef