Associated Papers
Translocation of molecular chaperones to the titin springs is common in skeletal myopathy patients and affects sarcomere function.
Unger A et al.
Acta Neuropathologica Communications, 2017
Conformational plasticity and evolutionary analysis of the myotilin tandem Ig domains.
Puž V et al.
Scientific Reports, 2017
Homozygosity of the Dominant Myotilin c.179C>T (p.Ser60Phe) Mutation Causes a More Severe and Proximal Muscular Dystrophy.
Rudolf G et al.
Journal of Neuromuscular Diseases, 2016
New insights into the protein aggregation pathology in myotilinopathy by combined proteomic and immunolocalization analyses.
Maerkens A et al.
Acta Neuropathologica Communications, 2016
Defective myotilin homodimerization caused by a novel mutation in MYOT exon 9 in the first Japanese limb girdle muscular dystrophy 1A patient.
Shalaby S et al.
Journal of Neuropathology and Experimental Neurology, 2009
Expression of mutant ubiquitin (UBB+1) and p62 in myotilinopathies and desminopathies.
Olivé M et al.
Neuropathology and Applied Neurobiology, 2008
The Z-disk diseases.
Selcen D et al.
Advances in Experimental Medicine and Biology, 2008
Myotilinopathy: refining the clinical and myopathological phenotype.
Olivé M et al.
Brain : a Journal of Neurology, 2005
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