Reexpression of Cartilage-Specific Genes by Dedifferentiated Human Articular Chondrocytes Cultured in Alginate Beads von Bonaventure, J., Kadhom, N., Cohen-Solal, L., Ng, K.H., Bourguignon, J., Lasselin, C., Freisinger, P.

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Impaired Mitochondrial Glutamate Transport in Autosomal Recessive Neonatal Myoclonic Epilepsy von Molinari, Florence, Raas-Rothschild, Annick, Rio, Marlène, Fiermonte, Giuseppe, Encha-Razavi, Ferechté, Palmieri, Luigi, Palmieri, Ferdinando, Ben-Neriah, Ziva, Kadhom, Noman, Vekemans, Michel, Attié-Bitach, Tania, Munnich, Arnold, Rustin, Pierre, Colleaux, Laurence

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Quinone-responsive multiple respiratory-chain dysfunction due to widespread coenzyme Q10 deficiency von Rötig, A, Appelkvist, E L, Geromel, V, Chretien, D, Kadhom, N, Edery, P, Lebideau, M, Dallner, G, Munnich, A, Ernster, L, Rustin, P

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A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure von Tzagoloff, Alexander, Niaudet, Patrick, Barrientos, Antoni, Munnich, Arnold, Rustin, Pierre, Taanman, Jan-Willem, Chrétien, Dominique, Kadhom, Noman, Rötig, Agnès, Benayoun, Emmanuel, Lombès, Anne, Valnot, Isabelle, de Lonlay, Pascale, Gorbatyuk, Marina, de Baulny, Hélène Ogier

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Large-Scale Deletion and Point Mutations of the Nuclear NDUFV1 and NDUFS1 Genes in Mitochondrial Complex I Deficiency von Bénit, Paule, Chretien, Dominique, Kadhom, Nohman, de Lonlay-Debeney, Pascale, Cormier-Daire, Valérie, Cabral, Aguinaldo, Peudenier, Sylviane, Rustin, Pierre, Munnich, Arnold, Rötig, Agnès

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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 von Geromel, V, Kadhom, N, Cebalos-Picot, I, Ouari, O, Polidori, A, Munnich, A, Rötig, A, Rustin, P

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Correlation between genotype, metabolic data, and clinical presentation in carnitine palmitoyltransferase 2 (CPT2) deficiency von Thuillier, Laure, Rostane, Hidayeth, Droin, Veronique, Demaugre, France, Brivet, Michèle, Kadhom, Noman, Prip-Buus, Carina, Gobin, Stéphanie, Saudubray, Jean-Marie, Bonnefont, Jean-Paul

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Substitution of aspartic acid for glycine at position 310 in type II collagen produces achondrogenesis II, and substitution of serine at position 805 produces hypochondrogenesis: a... von Bonaventure, J, Cohen-Solal, L, Ritvaniemi, P, Van Maldergem, L, Kadhom, N, Delezoide, A L, Maroteaux, P, Prockop, D J, Ala-Kokko, L

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Genotyping microsatellite DNA markers at putative disease loci in inbred/multiplex families with respiratory chain complex I deficiency allows rapid identification of a novel nonse... von BENIT, Paule, STEFFANN, Julie, MUNNICH, Arnold, RÖTIG, Agnès, LEBON, Sophie, CHRETIEN, Dominique, KADHOM, Noman, DE LONLAY, Pascale, GOLDENBERG, Alice, DUMEZ, Yves, DOMMERGUES, Marc, RUSTIN, Pierre

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Molecular and Enzymatic Characterization of a Unique Carnitine Palmitoyltransferase 1A Mutation in the Hutterite Community von Prip-Buus, Carina, Thuillier, Laure, Abadi, Nourredine, Prasad, Chitra, Dilling, Louise, Klasing, Juliet, Demaugre, France, Greenberg, Cheryl R., Haworth, James C., Droin, Véronique, Kadhom, Noman, Gobin, Stéphanie, Kamoun, Pierre, Girard, Jean, Bonnefont, Jean-Paul

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Fructose-Induced Enhanced Mitogenicity of Diploid Human Cells: Possible Relationship with Cell Differentiation von WOLFROM, C, KADHOM, N, RAULIN, J, RAYNAUD, N, GAUTIER, M

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Periodic fluctuations in proliferation of SV-40 transformed human skin fibroblast lines with prolonged lifespan von WOLFROM, C, RAYNAUD, N, MAIGNE, J, PAPATHANASSIOU, S, CONTI, M, KADHOM, N, HECQUET, B, LEVI, F, GAUTIER, M, DESCHATRETTE, J

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Impaired hexose uptake by diploid skin fibroblasts from galactosaemic patients. Connection with cell growth and amino acid metabolism, and possible bearing on late‐onset clinical s... von Wolfrom, C., Raynaud, N., Kadhom, N., Poggi, J., Soni, T., Gautier, M.

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Glutamine dependency of human skin fibroblasts: Modulation by hexoses von Wolfrom, C., Kadhom, N., Polini, G., Poggi, J., Moatti, N., Gautier, M.

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Cell complementation using Genebridge 4 human:rodent hybrids for physical mapping of novel mitochondrial respiratory chain deficiency genes von de Lonlay, Pascale, Mugnier, Claude, Sanlaville, Damien, Chantrel-Groussard, Karine, Bénit, Paule, Lebon, Sophie, Chrétien, Dominique, Kadhom, Noman, Saker, Safa, Gyapay, Gabor, Romana, Serge, Weissenbach, Jean, Munnich, Arnold, Rustin, Pierre, Rötig, Agnès

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Human cultured skin fibroblasts survive profound inherited ubiquinone depletion von Geromel, Vanna, Kadhom, Noman, Ceballos-Picot, Irène, Chrétien, Dominique, Munnich, Arnold, Rötig, Agnès, Rustin, Pierre

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Cytosolic thymidine kinase activity in cultured human fibroblasts from individuals with galactokinase deficiency von BAPTISTA, J, BRIVET, M, KADHOM, N, GAUTIER, M, LEMONNIER, A

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Caractérisation enzymatique et moléculaire d'un déficit en α-cétoglutarate déshydrogénase chez trois frères porteurs d'une encépahalopathie évolutive von Odièvre, M.H., Kadhom, N, Parfait, B, Rötig, A, Rustin, P, Munnich, A, Bonnefont, J.P.

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Low Efficiency of [ 14C] Galactose Incorporation by Galactosemic Skin Fibroblasts: Relationship with Neurological Sequelae von Kadhom, N., Baptista, J., Brivet, M., Wolfrom, C., Gautier, M.

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Quinone-responsive multiple respiratory-chain dysfunction due to widespread coenzyme Q10 deficiency von RÖTIG, A, APPELKVIST, E.-L, RUSTIN, P, GEROMEL, V, CHRETIEN, D, KADHOM, N, EDERY, P, LEBIDEAU, M, DALLNER, G, MUNNICH, A, ERNSTER, L

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