Filters
Term Search
You can select from the dropdown list OR enter your own terms to refine the search.
Last Updated: 10/31/2025
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 2038 publications
Lack of myotubularin phosphatase activity is the main cause of X-linked Myotubular Myopathy.
Journal: JCI insight
Published: October 14, 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
Clinical and genetic features of 5 neonates with centronuclear myopathy caused by MTM1 gene variation
Journal: Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics
Published: September 17, 2025
Sporadic Late Onset Nemaline Myopathy
Journal: Brain and nerve = Shinkei kenkyu no shinpo
Published: August 18, 2025
Clinical and Genetic Spectrum of Titinopathy: A Turkish Pediatric Case Series.
Journal: Neuro endocrinology letters
Published: August 10, 2025
Gene replacement therapy for centronuclear myopathy: A breakthrough in complex genetic muscle disease.
Journal: Molecular therapy : the journal of the American Society of Gene Therapy
Published: July 11, 2025
NOTCH2 mutation in centronuclear myopathy: Beyond the scope.
Journal: Molecular therapy : the journal of the American Society of Gene Therapy
Published: July 10, 2025
The spectrum of neuromuscular diseases with tubular aggregates.
Journal: Neuromuscular disorders : NMD
Published: June 24, 2025
Myofibrillar Myopathy: Clinico-Genetic Spectrum From a Neuromuscular Center in South India.
Journal: Journal of clinical neuromuscular disease
Published: June 13, 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
Last Updated: 10/31/2025