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Fatal outcome of iron-sulfur cluster scaffold NFU1 gene mutations in a neonatal patient
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Inborn oxidative phosphorylation defect as risk factor for propofol infusion syndrome
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Proteomic analysis in giant axonal neuropathy: new insights into disease mechanisms
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Array comparative genomic hybridization in male infertility
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Fluorescence imaging of mitochondria in cultured skin fibroblasts: a useful method for detection of oxidative phosphorylation defects
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Late onset painful cold-aggravated myotonia : three families with SCN4A L1436P mutation
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JC-1-based fluorescence to evaluate oxidative phosphorylation defects generates both qualitative and quantitative information
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TUBA1A mutations: from isolated lissencephaly to familial polymicrogyria
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Discordance for retinitis pigmentosa in two monozygotic twin pairs
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Complex III staining in blue native polyacrylamide gels