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Last Updated: 01/07/2026
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Found 340 publications
Myosin inhibition partially rescues the myofibre proteome in X-linked myotubular myopathy.
Journal: JCI insight
Published: November 06, 2025
Limited pre-clinical relevance of the heterozygous RYR1-I4895T/+ mouse model due to its mild phenotype.
Journal: Journal of neuromuscular diseases
Published: September 19, 2025
Muscle imaging of patients with RYR1-related myopathies and its significance to clinical features.
Journal: Neuromuscular disorders : NMD
Published: July 25, 2025
Incidence and Prevalence of Congenital Myopathies - A Population-Based Study From Western Sweden.
Journal: Annals of neurology
Published: June 27, 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
Clinical validity of congenital myopathy genes determined by the ClinGen Congenital Myopathies Expert Panel.
Journal: Journal of neuromuscular diseases
Published: June 10, 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
Assessing Tracheoinnominate Fistula in Patients With Neuromuscular Disorders: A Case Report.
Journal: The Laryngoscope
Published: April 01, 2025
Genetic and Structural Variations in Czech Patients With Congenital Myopathies.
Journal: Clinical genetics
Published: April 01, 2025
A systematic review on motor outcome measures in congenital myopathy.
Journal: Neuromuscular disorders : NMD
Published: February 26, 2025
Last Updated: 01/07/2026