Loss-of-Function Mutation in the Dioxygenase-Encoding FTO Gene Causes Severe Growth Retardation and Multiple Malformations von Boissel, Sarah, Reish, Orit, Proulx, Karine, Kawagoe-Takaki, Hiroko, Sedgwick, Barbara, Yeo, Giles S.H., Meyre, David, Golzio, Christelle, Molinari, Florence, Kadhom, Noman, Etchevers, Heather C., Saudek, Vladimir, Farooqi, I. Sadaf, Froguel, Philippe, Lindahl, Tomas, O'Rahilly, Stephen, Munnich, Arnold, Colleaux, Laurence

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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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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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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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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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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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Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. Online von Khaddour, Rana, Smith, Ursula, Baala, Lekbir, Martinovic, Jéléna, Clavering, Davina, Shaffiq, Rizwana, Ozilou, Catherine, Cullinane, Andrew, Kyttälä, Mira, Shalev, Stavit, Audollent, Sophie, d'Humières, Camille, Kadhom, Noman, Esculpavit, Chantal, Viot, Géraldine, Boone, Claire, Oien, Christine, Encha-Razavi, Férechté, Batman, Philip A, Bennett, Christopher P, Woods, C Geoffrey, Roume, Joelle, Lyonnet, Stanislas, Génin, Emmanuelle, Le Merrer, Martine, Munnich, Arnold, Gubler, Marie-Claire, Cox, Phillip, Macdonald, Fiona, Vekemans, Michel, Johnson, Colin A, Attié-Bitach, Tania

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A novel mutation in the dihydrolipoamide dehydrogenase E3 subunit gene (DLD) resulting in an atypical form of α-ketoglutarate dehydrogenase deficiency von Odièvre, Marie-Hélène, Chretien, Dominique, Munnich, Arnold, Robinson, Brian H., Dumoulin, Renée, Masmoudi, Sahben, Kadhom, Noman, Rötig, Agnès, Rustin, Pierre, Bonnefont, Jean-Paul

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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 syndrome von Lebon, Sophie, Minai, Limor, Chretien, Dominique, Corcos, Johanna, Serre, Valérie, Kadhom, Noman, Steffann, Julie, Pauchard, Jean-Yves, Munnich, Arnold, Bonnefont, Jean-Paul, Rötig, Agnès

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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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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, Vanna, KADHOM, Noman, CEBALOS-PICOT, Irène, OUARI, Olivier, POLIDORI, Ange, MUNNICH, Arnold, RÖTIG, Agnès, RUSTIN, Pierre

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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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A novel mutation in the dihydrolipoamide dehydrogenase E3 subunit gene (DLD) resulting in an atypical form of α-ketoglutarate dehydrogenase deficiency: MUTATIONS IN BRIEF von Odièvre, Marie-Hélène, Chretien, Dominique, Munnich, Arnold, Robinson, Brian H., Dumoulin, Renée, Masmoudi, Sahben, Kadhom, Noman, Rötig, Agnès, Rustin, Pierre, Bonnefont, Jean-Paul

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A novel mutation in the dihydrolipoamide dehydrogenase E3 subunit gene (DLD) resulting in an atypical form of [alpha]-ketoglutarate dehydrogenase deficiency von Marie-Hélène Odièvre, Chretien, Dominique, Munnich, Arnold, Robinson, Brian H, Dumoulin, Renée, Masmoudi, Sahben, Kadhom, Noman, Rötig, Agnès, Rustin, Pierre, Jean-Paul Bonnefont

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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 Bénit, Paule, Steffann, Julie, Lebon, Sophie, Chretien, Dominique, Kadhom, Noman, de Lonlay, Pascale, Goldenberg, Alice

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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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Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation von Khaddour, Rana, Smith, Ursula, Baala, Lekbir, Martinovic, Jéléna, Clavering, Davina, Shaffiq, Rizwana, Ozilou, Catherine, Cullinane, Andrew, Kyttälä, Mira, Shalev, Stavit, Audollent, Sophie, d'Humières, Camille, Kadhom, Noman, Esculpavit, Chantal, Viot, Géraldine, Boone, Claire, Oien, Christine, Encha-Razavi, Férechté, Batman, Philip A, Bennett, Christopher P, Woods, C Geoffrey, Roume, Joelle, Lyonnet, Stanislas, Génin, Emmanuelle, Le Merrer, Martine, Munnich, Arnold, Gubler, Marie-Claire, Cox, Phillip, Macdonald, Fiona, Vekemans, Michel, Johnson, Colin A., Attié-Bitach, Tania

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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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Quinone-responsive multiple respiratory-chain dysfunction due to widespread coenzyme Q 10 deficiency von Rötig, Agnés, Appelkvist, Eeva-Liisa, Geromel, Vanna, Chretien, Dominique, Kadhom, Noman, Edery, Patrick, Lebideau, Marc, Dallner, Gustav, Munnich, Arnold, Ernster, Lars, Rustin, Pierre

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