281 papers found
Refreshing results…
Fukutin gene mutations cause dilated cardiomyopathy with minimal muscle weakness
Severe nemaline myopathy caused by mutations of the stop codon of the skeletal muscle alpha actin gene (ACTA1)
Overexpression of Peroxisome Proliferator-Activated Receptor γ Co-Activator-1α Leads to Muscle Atrophy with Depletion of ATP
Distal myopathy with rimmed vacuoles in a case of opercular syndrome
Autophagic Vacuolar Myopathy
Malignant Hyperthermia in Japan
Sporadic inclusion body myositis in Japanese is associated with the MHC ancestral haplotype 52.1
Humanin expression in skeletal muscles of patients with chronic progressive external ophthalmoplegia
Rapid and accurate diagnosis of facioscapulohumeral muscular dystrophy
A case of congenital neuromuscular disease with uniform type 1 fibers
A case of Fukuyama-type congenital muscular dystrophy with a very mild mental deficit
Expression profiling of muscles from Fukuyama-type congenital muscular dystrophy and laminin-α2 deficient congenital muscular dystrophy; is congenital muscular dystrophy a primary fibrotic disease?
Aberrant neuromuscular junctions and delayed terminal muscle fiber maturation in α-dystroglycanopathies
Emerin-Lacking Mice Show Minimal Motor and Cardiac Dysfunctions with Nuclear-Associated Vacuoles
Thymidine Phosphorylase Gene Mutations Cause Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE)
NovelLamp-2 gene mutation and successful treatment with heart transplantation in a large family with Danon disease
Mutation analysis of theGNE gene in distal myopathy with rimmed vacuoles (DMRV) patients in Thailand
Expression of Myoferlin in Skeletal Muscles of Patients with Dysferlinopathy
Early onset distal muscular dystrophy with normal dysferlin expression
Sub-cellular localisation of fukutin related protein in different cell lines and in the muscle of patients with MDC1C and LGMD2I
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