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Analysis of the whole mitochondrial genome: translation of the Ion Torrent Personal Genome Machine system to the diagnostic bench?
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Effect of resveratrol on cultured skin fibroblasts from patients with oxidative phosphorylation defects
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- Journal Article
- A1
- open access
A bumpy ride on the diagnostic bench of massive parallel sequencing, the case of the mitochondrial genome
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- Journal Article
- A2
- open access
Clinical variability in neurohepatic syndrome due to combined mitochondrial DNA depletion and Gaucher disease
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Did lightning strike twice?
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Elaborating the phenotypic spectrum associated with mutations in ARFGEF2: case study and literature review
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A novel compound heterozygous mutation in NFU1 as cause of iron-sulfur cluster biosynthesis
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Early myoclonic epilepsy, hypertrophic cardiomyopathy and subsequently a nephrotic syndrome in a patient with CoQ10 deficiency caused by mutations in para-hydroxybenzoate-polyprenyl transferase (COQ2)
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Fatal outcome of iron-sulfur cluster scaffold NFU1 gene mutations in a neonatal patient
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Proteomic analysis in giant axonal neuropathy: new insights into disease mechanisms
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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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Discordance for retinitis pigmentosa in two monozygotic twin pairs
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Complex III staining in blue native polyacrylamide gels
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Analysis of the giant axonal neuropathy fibroblasts proteome
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ATP synthase deficiency: a diagnostic strategy for not such an uncommon cause of OXPHOS dysfunction
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Defining the pathogenesis of the human Atp12p W94R mutation using a Saccharomyces cerevisiae yeast model
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Giant axonal neuropathy caused by compound heterozygosity for a maternally inherited microdeletion and a paternal mutation within the GAN gene
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Deleterious mutations in RRM2B, a gene responsible for maintenance of mtDNA, result in severe reduction of mtDNA content in skeletal muscle
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Mutations in TMEM70, a gene coding for an assembly factor of complex V, can cause a severe encephalocardiomyopathy in the neonatal period as wel as mild non-progressive encephalopathy in adolescence
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Mutations in TMEM70 causes severe encephalocardiomyopathy as well as mild encephalopathy
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Deleterious mutations in RRM2B result in severe reduction of mtDNA content in skeletal muscle
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Subcomplexes of mitochondrial complex V reveal mutations in mitochondrial DNA
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Lactic Acidosis in a Newborn With Adrenal Calcifications
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A new family with the mitochondrial tRNAGLU gene mutation m.14709T > C presenting with hydrops fetalis
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A novel mitochondrial transfer RNA(Asn) mutation causing multiorgan failure
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Preimplantation genetic diagnosis of Marfan syndrome with the use of fluorescent polymerase chain reaction and the Automated Laser Fluorescence DNA sequencer