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Last Updated: 10/31/2025
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Found 912 publications
Sporadic Late Onset Nemaline Myopathy
Journal: Brain and nerve = Shinkei kenkyu no shinpo
Published: August 18, 2025
KLHL41 orchestrates sarcomere assembly and size to drive skeletal muscle hypertrophy in vivo.
Journal: bioRxiv : the preprint server for biology
Published: June 12, 2025
Parents as First Responders: Experiences of Emergency Care in Children with Nemaline Myopathy: A Qualitative Study.
Journal: Nursing reports (Pavia, Italy)
Published: May 26, 2025
A homozygous single-nucleotide variant in TNNT1 causes abnormal troponin T isoform expression in a patient with severe nemaline myopathy: A case report.
Journal: Journal of neuromuscular diseases
Published: May 21, 2025
Linking altered structure and post-translational modification of Troponin T to dystonia in nemaline myopathies.
Journal: The Journal of physiology
Published: May 21, 2025
3D Electron Microscopic Visualization of Nemaline Rods in a Case of Congenital Myopathy.
Journal: Neurology
Published: May 12, 2025
Tracheal Complications Following Prolonged Invasive Ventilation in Tracheostomized Pediatric Patients with Complex Chronic Conditions.
Journal: Children (Basel, Switzerland)
Published: May 04, 2025
Novel missense variants in CFL2 affect F-actin depolymerisation and expand the disease spectrum of CFL2-related myopathy.
Journal: Human molecular genetics
Published: March 14, 2025
Prevalence and incidence rates of 17 neuromuscular disorders: An updated review of the literature.
Journal: Journal of neuromuscular diseases
Published: March 04, 2025
Like father, like son: RNA-sequencing from a 30-year-old muscle biopsy identifies a novel splice variant in ACTA1 as the cause of an attenuated nemaline myopathy phenotype.
Journal: Neuromuscular disorders : NMD
Published: February 26, 2025
Last Updated: 10/31/2025