Implementation of long-read sequencing for routine molecular diagnosis of familial mediterranean fever
Vanhoye, X., Mouty, P., Mouty, S., Bargues, N., Couprie, N., Fayolle, E., Géromel, V., Taoudi, M., Raymond, L., Taly, J.-F.
Published in Practical laboratory medicine (01.08.2024)
Published in Practical laboratory medicine (01.08.2024)
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Superoxide-induced massive apoptosis in cultured skin fibroblasts harboring the neurogenic ataxia retinitis pigmentosa (NARP) mutation in the ATPase-6 gene of the mitochondrial DNA
GEROMEL, Vanna, KADHOM, Noman, CEBALOS-PICOT, Irène, OUARI, Olivier, POLIDORI, Ange, MUNNICH, Arnold, RÖTIG, Agnès, RUSTIN, Pierre
Published in Human molecular genetics (01.05.2001)
Published in Human molecular genetics (01.05.2001)
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Quinone-responsive multiple respiratory-chain dysfunction due to widespread coenzyme Q10 deficiency
Rötig, A, Appelkvist, E L, Geromel, V, Chretien, D, Kadhom, N, Edery, P, Lebideau, M, Dallner, G, Munnich, A, Ernster, L, Rustin, P
Published in The Lancet (British edition) (29.07.2000)
Published in The Lancet (British edition) (29.07.2000)
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Journal Article
Disabled early recruitment of antioxidant defenses in Friedreich's ataxia
CHANTREL-GROUSSARD, Karine, GEROMEL, Vanna, PUCCIO, Hélène, KOENIG, Michel, MUNNICH, Arnold, RÖTIG, Agnès, RUSTIN, Pierre
Published in Human molecular genetics (15.09.2001)
Published in Human molecular genetics (15.09.2001)
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Journal Article
Superoxide-induced massive apoptosis in cultured skin fibroblasts harboring the neurogenic ataxia retinitis pigmentosa (NARP) mutation in the ATPase-6 gene of the mitochondrial DNA
Geromel, V, Kadhom, N, Cebalos-Picot, I, Ouari, O, Polidori, A, Munnich, A, Rötig, A, Rustin, P
Published in Human molecular genetics (15.05.2001)
Published in Human molecular genetics (15.05.2001)
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Journal Article
Coenzyme Q(10) and idebenone in the therapy of respiratory chain diseases: rationale and comparative benefits
Geromel, Vanna, Darin, Niklas, Chrétien, Dominique, Bénit, Paule, DeLonlay, Pascale, Rötig, Agnès, Munnich, Arnold, Rustin, Pierre
Published in Molecular genetics and metabolism (01.09.2002)
Published in Molecular genetics and metabolism (01.09.2002)
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Mitochondria transfection by oligonucleotides containing a signal peptide and vectorized by cationic liposomes
Geromel, V, Cao, A, Briane, D, Vassy, J, Rotig, A, Rustin, P, Coudert, R, Rigaut, J P, Munnich, A, Taillandier, E
Published in Antisense & nucleic acid drug development (01.06.2001)
Published in Antisense & nucleic acid drug development (01.06.2001)
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Exercise Induces Myonuclear Ubiquitination and Apoptosis in Dystrophin-deficient Muscle of Mice
SANDRI, MARCO, PODHORSKA-OKOLOW, MARZENA, GEROMEL, VANNA, RIZZI, CORRADO, ARSLAN, PAOLA, FRANCESCHI, CLAUDIO, CARRARO, UGO
Published in Journal of neuropathology and experimental neurology (01.01.1997)
Published in Journal of neuropathology and experimental neurology (01.01.1997)
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Journal Article
Human cultured skin fibroblasts survive profound inherited ubiquinone depletion
Geromel, Vanna, Kadhom, Noman, Ceballos-Picot, Irène, Chrétien, Dominique, Munnich, Arnold, Rötig, Agnès, Rustin, Pierre
Published in Free radical research (01.01.2001)
Published in Free radical research (01.01.2001)
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The Consequences of a Mild Respiratory Chain Deficiency on Substrate Competitive Oxidation in Human Mitochondria
Geromel, Vanna, Parfait, Béatrice, Kleist-Retzow, Jürgen-Christoph von, Chretien, Dominique, Munnich, Arnold, Rötig, Agnès, Rustin, Pierre
Published in Biochemical and biophysical research communications (30.07.1997)
Published in Biochemical and biophysical research communications (30.07.1997)
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Journal Article
Quinone-responsive multiple respiratory-chain dysfunction due to widespread coenzyme Q10 deficiency
RÖTIG, A, APPELKVIST, E.-L, RUSTIN, P, GEROMEL, V, CHRETIEN, D, KADHOM, N, EDERY, P, LEBIDEAU, M, DALLNER, G, MUNNICH, A, ERNSTER, L
Published in The Lancet (British edition) (01.07.2000)
Published in The Lancet (British edition) (01.07.2000)
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