281 papers found
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Distal lipid storage myopathy due to PNPLA2 mutation
Lysosomal myopathies: An excessive build-up in autophagosomes is too much to handle
Genotype and phenotype analyses in 136 patients with single large-scale mitochondrial DNA deletions
Csk-homologous kinase interacts with SHPS-1 and enhances neurite outgrowth of PC12 cells
Affixin activates Rac1 via βPIX in C2C12 myoblast
Malignant hyperthermia susceptibility diagnosed with a family-specific ryanodine receptor gene type 1 mutation
Mitochondrial Encephalomyopathy Associated with Diabetes Mellitus, Cataract, and Corpus Callosum Atrophy
Asymptomatic Sporadic Dysferlinopathy Presenting with Elevation of Serum Creatine Kinase. Typical Distribution of Muscle Involvement Shown by MRI but not by CT
Myotubular/centronuclear myopathy and central core disease
Limb-Girdle Muscular Dystrophy Due to Emerin Gene Mutations
A novel FKRP gene mutation in a Taiwanese patient with limb-girdle muscular dystrophy 2I
Characterization of lobulated fibers in limb girdle muscular dystrophy type 2A by gene expression profiling
Expression of MBNL and CELF mRNA transcripts in muscles with myotonic dystrophy
Familial reducing body myopathy
Unfolded protein response and aggresome formation in hereditary reducing-body myopathy
Cys669?Cys713 disulfide bridge formation is a key to dystroglycan cleavage and subunit association
LAMP-2 Positive Vacuolar Myopathy with Dilated Cardiomyopathy
Lysosomal myopathies
Erratum: Corrigendum: Cxorf6 is a causative gene for hypospadias
CXorf6 is a causative gene for hypospadias
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