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Ullrich congenital muscular dystrophy: a new cellular study on cultured skin fibroblasts
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- Journal Article
- A1
- open access
Restoration of cytoskeleton homeostasis after gigaxonin gene transfer for giant axonal neuropathy
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Proteomic analysis in giant axonal neuropathy: new insights into disease mechanisms
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Proteomic analysis of cultured skin fibroblasts from UCMD patients reveals the involvement of two new cellular pathways
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Analysis of the giant axonal neuropathy fibroblasts proteome
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Nondenaturing polyacrylamide gel electrophoresis as a method for studying protein interactions: applications in the analysis of mitochondrial OXPHOS complexes
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Aminoacylase I deficiency: A novel inborn error of metabolism
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Profiling of myelin proteins by 2D-gel electrophoresis and multidimensional liquid chromatography coupled to MALDI TOF-TOF mass Spectrometry
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Proteomic identification of the myelin proteins
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Homozygous Gly555Glu mutation in the nuclear-encoded 70 kDa flavoprotein gene causes instability of the respiratory chain complex II