The SR Protein SC35 Is Responsible for Aberrant Splicing of the E1α Pyruvate Dehydrogenase mRNA in a Case of Mental Retardation with Lactic Acidosis von Gabut, Mathieu, Miné, Manuèle, Marsac, Cécile, Brivet, Michèle, Tazi, Jamal, Soret, Johann

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A large genomic deletion in the PDHX gene caused by the retrotranspositional insertion of a full-length LINE-1 element von Miné, Manuèle, Chen, Jian-Min, Brivet, Michèle, Desguerre, Isabelle, Marchant, Dominique, de Lonlay, Pascale, Bernard, Aral, Férec, Claude, Abitbol, Marc, Ricquier, Daniel, Marsac, Cécile

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Pyruvate dehydrogenase complex deficiency: four neurological phenotypes with differing pathogenesis von BARNERIAS, CHRISTINE, SAUDUBRAY, JEAN‐MARIE, TOUATI, GUY, DE LONLAY, PASCALE, DULAC, OLIVIER, PONSOT, GERARD, MARSAC, CÉCILE, BRIVET, MICHÈLE, DESGUERRE, ISABELLE

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Stimulation of mitochondrial activity by p43 overexpression induces human dermal fibroblast transformation von GRANDEMANGE, Stéphanie, SEYER, Pascal, WRUTNIAK-CABELLO, Chantal, CARAZO, Angel, BECUWE, Philippe, PESSEMESSE, Laurence, BUSSON, Muriel, MARSAC, Cecile, ROGER, Pascal, CASAS, Francois, CABELLO, Gérard

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Three new PAX6 mutations including one causing an unusual ophthalmic phenotype associated with neurodevelopmental abnormalities von Dansault, Anouk, David, Gabriel, Schwartz, Claire, Jaliffa, Carolina, Vieira, Véronique, de la Houssaye, Guillaume, Bigot, Karine, Catin, Françise, Tattu, Laurent, Chopin, Catherine, Halimi, Philippe, Roche, Olivier, Van Regemorter, Nicole, Munier, Francis, Schorderet, Daniel, Dufier, Jean-Louis, Marsac, Cécile, Ricquier, Daniel, Menasche, Maurice, Penfornis, Alfred, Abitbol, Marc

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Identification of four new PITX2 gene mutations in patients with Axenfeld-Rieger syndrome von Vieira, Veronique, David, Gabriel, Roche, Olivier, de la Houssaye, Guillaume, Boutboul, Sandrine, Arbogast, Laurence, Kobetz, Alexandra, Orssaud, Christophe, Camand, Olivier, Schorderet, Daniel F, Munier, Francis, Rossi, Annick, Delezoide, Anne Lise, Marsac, Cecile, Ricquier, Daniel, Dufier, Jean-Louis, Menasche, Maurice, Abitbol, Marc

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A novel gross deletion caused by non-homologous recombination of the PDHX gene in a patient with pyruvate dehydrogenase deficiency von Miné, Manuèle, Brivet, Michèle, Schiff, Manuel, de Baulny, Hélène Ogier, Chuzhanova, Nadia, Marsac, Cécile

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Pyruvate carboxylase deficiency: Metabolic characteristics and new neurological aspects von García-Cazorla, Angels, Rabier, Daniel, Touati, Guy, Chadefaux-Vekemans, Bernadette, Marsac, Cécile, de Lonlay, Pascale, Saudubray, Jean-Marie

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Eight previously unidentified mutations found in the OA1 ocular albinism gene von Mayeur, Hélène, Roche, Olivier, Vêtu, Christelle, Jaliffa, Carolina, Marchant, Dominique, Dollfus, Hélène, Bonneau, Dominique, Munier, Francis L, Schorderet, Daniel F, Levin, Alex V, Héon, Elise, Sutherland, Joanne, Lacombe, Didier, Said, Edith, Mezer, Eedy, Kaplan, Josseline, Dufier, Jean-Louis, Marsac, Cécile, Menasche, Maurice, Abitbol, Marc

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Leigh's disease due to a new mutation in the PDHX gene von Schiff, Manuel, Miné, Manuele, Brivet, Michèle, Marsac, Cécile, Elmaleh-Bergés, Monique, Evrard, Philippe, Ogier De Baulny, Hélène

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Impairment of the mitochondrial respiratory chain activity in diethylnitrosamine-induced rat hepatomas : possible involvement of oxygen free radicals von BOITIER, E, MERAD-BOUDIA, M, GUGUEN-GUILLOUZO, C, DEFER, N, CEBALLOS-PICOT, I, LEROUX, J.-P, MARSAC, C

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Homozygous Deletion in the Coding Sequence of the c-mer Gene in RCS Rats Unravels General Mechanisms of Physiological Cell Adhesion and Apoptosis von Nandrot, Emeline, Dufour, Eric M, Provost, Alexandra C, Péquignot, Marie O, Bonnel, Sébastien, Gogat, Karı̈n, Marchant, Dominique, Rouillac, Christelle, Sépulchre de Condé, Bertille, Bihoreau, Marie-Thérèse, Shaver, Cindi, Dufier, Jean-Louis, Marsac, Cécile, Lathrop, Mark, Menasche, Maurice, Abitbol, Marc M

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Identification of novel genes and altered signaling pathways in the retinal pigment epithelium during the Royal College of Surgeons rat retinal degeneration von Dufour, Eric M, Nandrot, Emeline, Marchant, Dominique, Berghe, Loïc Van Den, Gadin, Stéphanie, Issilame, Moussa, Dufier, Jean-Louis, Marsac, Cécile, Carper, Deborah, Menasche, Maurice, Abitbol, Marc

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A new case of pyruvate dehydrogenase deficiency due to a novel mutation in the pdx1 gene von Dey, Runu, Mine, Manuele, Desguerre, Isabelle, Slama, Abdelhamid, Van Den Berghe, Loic, Brivet, Michèle, Aral, Bernard, Marsac, Cécile

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Overproduction of Cu/Zn-Superoxide Dismutase or Bcl-2 Prevents the Brain Mitochondrial Respiratory Dysfunction Induced by Glutathione Depletion von Mérad-Saı̈doune, Mansouria, Boitier, Eric, Nicole, Annie, Marsac, Cécile, Martinou, Jean Claude, Sola, Brigitte, Sinet, Pierre-Marie, Ceballos-Picot, Irène

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A large genomic deletion in thePDHX gene caused by the retrotranspositional insertion of a full-length LINE-1 element von Miné, Manuèle, Chen, Jian-Min, Brivet, Michèle, Desguerre, Isabelle, Marchant, Dominique, de Lonlay, Pascale, Bernard, Aral, Férec, Claude, Abitbol, Marc, Ricquier, Daniel, Marsac, Cécile

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Expression of human cytochrome c, oxidase subunits during fetal development von BONNE, Giséle, SEIBEL, Peter, POSSEKEL, Stefanie, MARSAC, Cécile, KADENBACH, Bernhard

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Pyruvate dehydrogenase deficiency as a result of splice-site mutations in the PDX1 gene von Dey, Runu, Aral, Bernard, Abitbol, Marc, Marsac, Cecile

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Compound heterozygous mutations in the flavoprotein gene of the respiratory chain complex II in a patient with Leigh syndrome von PARFAIT, B, CHRETIEN, D, RÖTIG, A, MARSAC, C, MUNNICH, A, RUSTIN, P

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Splicing Error in E1α Pyruvate Dehydrogenase mRNA Caused by Novel Intronic Mutation Responsible for Lactic Acidosis and Mental Retardation von Miné, Manuèle, Brivet, Michèle, Touati, Guy, Grabowski, Paula, Abitbol, Marc, Marsac, Cécile

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