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Dominique Chretien

Showing results (11-20 of 23) with videos related to

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Neurology. Genetics|March 23, 2018
<i>ACO2</i> mutations: A novel phenotype associating severe optic atrophy and spastic paraplegiaCecilia Marelli, Christian Hamel, Melanie Quiles, et al.
Human Mutation|February 16, 2005
A novel mutation in the dihydrolipoamide dehydrogenase E3 subunit gene (DLD) resulting in an atypical form of alpha-ketoglutarate dehydrogenase deficiencyMarie-Hélène Odièvre, Dominique Chretien, Arnold Munnich, et al.
Plos One|November 8, 2019
Evolutionarily conserved susceptibility of the mitochondrial respiratory chain to SDHI pesticides and its consequence on the impact of SDHIs on human cultured cellsPaule Bénit, Agathe Kahn, Dominique Chretien, et al.
Molecular Genetics and Metabolism|July 3, 2007
A novel mutation of the NDUFS7 gene leads to activation of a cryptic exon and impaired assembly of mitochondrial complex I in a patient with Leigh syndromeSophie Lebon, Limor Minai, Dominique Chretien, et al.
Nature Communications|April 7, 2019
The class 3 PI3K coordinates autophagy and mitochondrial lipid catabolism by controlling nuclear receptor PPARαAnton Iershov, Ivan Nemazanyy, Chantal Alkhoury, et al.
Human Genetics|March 5, 2003
Genotyping microsatellite DNA markers at putative disease loci in inbred/multiplex families with respiratory chain complex I deficiency allows rapid identification of a novel nonsense mutation (IVS1nt -1) in the NDUFS4 gene in Leigh syndromePaule Bénit, Julie Steffann, Sophie Lebon, et al.
Human Mutation|May 20, 2003
Mutant NDUFV2 subunit of mitochondrial complex I causes early onset hypertrophic cardiomyopathy and encephalopathyPaule Bénit, Réjane Beugnot, Dominique Chretien, et al.
American Journal of Human Genetics|March 6, 2008
CABC1 gene mutations cause ubiquinone deficiency with cerebellar ataxia and seizuresJulie Mollet, Agnès Delahodde, Valérie Serre, et al.
Human Mutation|July 26, 2011
Exome sequencing identifies MRPL3 mutation in mitochondrial cardiomyopathyLouise Galmiche, Valérie Serre, Marine Beinat, et al.
Journal of Medical Genetics|October 30, 2014
Mutations in the tricarboxylic acid cycle enzyme, aconitase 2, cause either isolated or syndromic optic neuropathy with encephalopathy and cerebellar atrophyMetodi Dimitrov Metodiev, Sylvie Gerber, Laurence Hubert, et al.
Pageof 3

Showing results (11-20 of 23) with videos related to

Sort By:
Pageof 3
Neurology. Genetics|March 23, 2018
<i>ACO2</i> mutations: A novel phenotype associating severe optic atrophy and spastic paraplegiaCecilia Marelli, Christian Hamel, Melanie Quiles, et al.
Human Mutation|February 16, 2005
A novel mutation in the dihydrolipoamide dehydrogenase E3 subunit gene (DLD) resulting in an atypical form of alpha-ketoglutarate dehydrogenase deficiencyMarie-Hélène Odièvre, Dominique Chretien, Arnold Munnich, et al.
Plos One|November 8, 2019
Evolutionarily conserved susceptibility of the mitochondrial respiratory chain to SDHI pesticides and its consequence on the impact of SDHIs on human cultured cellsPaule Bénit, Agathe Kahn, Dominique Chretien, et al.
Molecular Genetics and Metabolism|July 3, 2007
A novel mutation of the NDUFS7 gene leads to activation of a cryptic exon and impaired assembly of mitochondrial complex I in a patient with Leigh syndromeSophie Lebon, Limor Minai, Dominique Chretien, et al.
Nature Communications|April 7, 2019
The class 3 PI3K coordinates autophagy and mitochondrial lipid catabolism by controlling nuclear receptor PPARαAnton Iershov, Ivan Nemazanyy, Chantal Alkhoury, et al.
Human Genetics|March 5, 2003
Genotyping microsatellite DNA markers at putative disease loci in inbred/multiplex families with respiratory chain complex I deficiency allows rapid identification of a novel nonsense mutation (IVS1nt -1) in the NDUFS4 gene in Leigh syndromePaule Bénit, Julie Steffann, Sophie Lebon, et al.
Human Mutation|May 20, 2003
Mutant NDUFV2 subunit of mitochondrial complex I causes early onset hypertrophic cardiomyopathy and encephalopathyPaule Bénit, Réjane Beugnot, Dominique Chretien, et al.
American Journal of Human Genetics|March 6, 2008
CABC1 gene mutations cause ubiquinone deficiency with cerebellar ataxia and seizuresJulie Mollet, Agnès Delahodde, Valérie Serre, et al.
Human Mutation|July 26, 2011
Exome sequencing identifies MRPL3 mutation in mitochondrial cardiomyopathyLouise Galmiche, Valérie Serre, Marine Beinat, et al.
Journal of Medical Genetics|October 30, 2014
Mutations in the tricarboxylic acid cycle enzyme, aconitase 2, cause either isolated or syndromic optic neuropathy with encephalopathy and cerebellar atrophyMetodi Dimitrov Metodiev, Sylvie Gerber, Laurence Hubert, et al.
Pageof 3