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Progressive myoclonic epilepsy as an adult-onset manifestation of Leigh syndrome due to m.14487T > C
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Progressive myoclonic epilepsy as an adult-onset manifestation of Leigh syndrome due to the m.14487T>C mutation in ND6
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Immunohistochemical analysis of the oxidative phosphorylation complexes in skeletal muscle from patients with mitochondrial DNA encoded tRNA gene defects
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Histochemical methods for the diagnosis of mitochondrial diseases
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Visualizing oxidative phosphorylation defects in skeletal muscle of patients with mitochondrial tRNA gene mutations using immunohistochemistry
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Immunohistochemical studies of oxidative phosphorylation in skeletal muscle of patients with mitochondrial tRNA gene mutations
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Two novel mitochondrial DNA mutations in muscle tissue of a patient with limb-girdle myopathy
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MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 2
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Ataxia oculomotor apraxia I
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Blue native polyacrylamide gel electrophoresis: A powerful tool in diagnosis of oxidative phosphorylation defects