, Web Resources
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, ESP) Exome Variant Server
Epilepsy and respiratory chain defects in children with mitochondrial encephalopathies, Neuropediatrics, vol.39, pp.8-13, 2008. ,
GeneMatcher: a matching tool for connecting investigators with an interest in the same gene, Hum. Mutat, vol.36, pp.928-930, 2015. ,
A mitochondrial origin for frontotemporal dementia and amyotrophic lateral sclerosis through CHCHD10 involvement, Brain, vol.137, pp.2329-2345, 2014. ,
URL : https://hal.archives-ouvertes.fr/hal-01059178
Whole-exome sequencing identifies MDH2 as a new familial paraganglioma gene, J. Natl. Cancer Inst, vol.107, 2015. ,
Yeast as a system for modeling mitochondrial disease mechanisms and discovering therapies, Dis. Model. Mech, vol.8, pp.509-526, 2015. ,
URL : https://hal.archives-ouvertes.fr/hal-02104521
Mitochondriatargeted green fluorescent proteins: convenient tools for the study of organelle biogenesis in Saccharomyces cerevisiae, Yeast, vol.16, pp.1421-1427, 2000. ,
The MFN2 gene is responsible for mitochondrial DNA instability and optic atrophy 'plus' phenotype, Brain, vol.135, pp.23-34, 2012. ,
Nonviability of cells with oxidative defects in galactose medium: a screening test for affected patient fibroblasts, Biochem. Med. Metab. Biol, vol.48, pp.122-126, 1992. ,
Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency, Nat. Genet, vol.11, pp.144-149, 1995. ,
Recessive germline SDHA and SDHB mutations causing leukodystrophy and isolated mitochondrial complex II deficiency, J. Med. Genet, vol.49, pp.569-577, 2012. ,
Mutations in SDHD lead to autosomal recessive encephalomyopathy and isolated mitochondrial complex II deficiency, J. Med. Genet, vol.51, pp.170-175, 2014. ,
SDHAF1, encoding a LYR complex-II specific assembly factor, is mutated in SDH-defective infantile leukoencephalopathy, Nat. Genet, vol.41, pp.654-656, 2009. ,
Clinical and biochemical heterogeneity associated with fumarase deficiency, Hum. Mutat, vol.32, pp.1046-1052, 2011. ,
Infantile cerebellar-retinal degeneration associated with a mutation in mitochondrial aconitase, ACO2, Am. J. Hum. Genet, vol.90, pp.518-523, 2012. ,
Tricarboxylic acid cycle in rat brain synaptosomes. Fluxes and interactions with aspartate aminotransferase and malate/ aspartate shuttle, J. Biol. Chem, vol.269, pp.27414-27420, 1994. ,
Inborn errors of the Krebs cycle: a group of unusual mitochondrial diseases in human, Biochim. Biophys. Acta, vol.1361, pp.185-197, 1997. ,
The changing face of dietary therapy for epilepsy, Eur. J. Pediatr, vol.175, pp.1267-1276, 2016. ,
Safe and effective use of the ketogenic diet in children with epilepsy and mitochondrial respiratory chain complex defects, Epilepsia, vol.48, pp.82-88, 2007. ,
Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma, Science, vol.287, pp.848-851, 2000. ,
Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer, Nat. Genet, vol.30, pp.406-410, 2002. ,
IDH1 and IDH2 mutations in gliomas, N. Engl. J. Med, vol.360, pp.765-773, 2009. ,
Revisiting the TCA cycle: signaling to tumor formation, Trends Mol. Med, vol.17, pp.641-649, 2011. ,
Pheochromocytoma: Gasping for Air, Horm. Cancer, vol.6, pp.191-205, 2015. ,
The FH mutation database: an online database of fumarate hydratase mutations involved in the MCUL (HLRCC) tumor syndrome and congenital fumarase deficiency, BMC Med. Genet, vol.9, p.20, 2008. ,