281 papers found
Refreshing results…
Clinical and histological findings associated with autoantibodies detected by RNA immunoprecipitation in inflammatory myopathies
The muscle findings in a pediatric patient with live attenuated oral polio vaccine-related flaccid monoplegia
Kyphoscoliosis and easy fatigability in a 14-year-old boy
A girl with West syndrome and autistic features harboring a de novo TBL1XR1 mutation
A case of adult-onset reducing body myopathy presenting a novel clinical feature, asymmetrical involvement of the sternocleidomastoid and trapezius muscles
Sialyllactose ameliorates myopathic phenotypes in symptomatic GNE myopathy model mice
GNE myopathy: current update and future therapy
Deep sequencing detects very-low-grade somatic mosaicism in the unaffected mother of siblings with nemaline myopathy
201st ENMC International Workshop: Autophagy in muscular dystrophies – Translational approach, 1–3 November 2013, Bussum, The Netherlands
GNE myopathy: A prospective natural history study of disease progression
Congenital fiber type disproportion myopathy caused by LMNA mutations
GNE myopathy: New name and new mutation nomenclature
Association between a C8orf13–BLK Polymorphism and Polymyositis/Dermatomyositis in the Japanese Population: An Additive Effect with STAT4 on Disease Susceptibility
Absence of beta-amyloid deposition in the central nervous system of a transgenic mouse model of distal myopathy with rimmed vacuoles
MELAS phenotype associated with m.3302A>G mutation in mitochondrial tRNALeu(UUR) gene
Clinical and genetic analysis of the first known Asian family with myotonic dystrophy type 2
A primigravida with very-long-chain acyl-CoA dehydrogenase deficiency
A nationwide survey on Marinesco-Sjögren syndrome in Japan
Allele-specific Gene Silencing of Mutant mRNA Restores Cellular Function in Ullrich Congenital Muscular Dystrophy Fibroblasts
Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy
Missing publications? Read more about our data sources.