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Follow-up of spinal and brain MRI and proton MRS in a girl with bilateral optic neuropathy, additional CNS symptoms and complex I deficiency (LHON plus, MS-like disease)
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Two siblings with early presentation of Vanishing White Matter disease
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A patient with late onset Krabbe disease treated by BMT
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Proteomic identification of the myelin proteins
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Respiratory chain complex V deficiency due to a mutation in the assembly gene ATP12
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Analysis of the mitochondrial encoded subunits of complex 1 in 20 patients with a complex 1 deficiency
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Clinical and diagnostic characteristics of complex III deficiency due to mutations in the BCS1L gene
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Homozygous Gly555Glu mutation in the nuclear-encoded 70 kDa flavoprotein gene causes instability of the respiratory chain complex II
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Automated nanoflow Liquid chromatography/tandem mass spectrometric identification of liver mitochondrial proteins
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Timing a catch in children with and without DCD