Publications by authors named "Cecile Marsac"

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Pyruvate dehydrogenase complex deficiency: four neurological phenotypes with differing pathogenesis.
Christine Barnerias, Jean-Marie Saudubray, Guy Touati, Pascale De Lonlay, Olivier Dulac, Cécile Marsac

Dev Med Child Neurol· February 2010

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Novel human pathological mutations. Gene symbol: FZD4. Disease: familial exudative vitreoretinopathy.
Véronique Vieira, Guillaume de la Houssaye, Anouk Dansault, Elodie Perez, Olivier Roche, Cécile Marsac

Hum Genet· June 2007

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Three new PAX6 mutations including one causing an unusual ophthalmic phenotype associated with neurodevelopmental abnormalities.
Anouk Dansault, Gabriel David, Claire Schwartz, Carolina Jaliffa, Véronique Vieira, Cécile Marsac

Mol Vis· April 2007

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A large genomic deletion in the PDHX gene caused by the retrotranspositional insertion of a full-length LINE-1 element.
Manuèle Miné, Jian-Min Chen, Michèle Brivet, Isabelle Desguerre, Dominique Marchant, Cécile Marsac

Hum Mutat· February 2007

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Identification of four new PITX2 gene mutations in patients with Axenfeld-Rieger syndrome.
Veronique Vieira, Gabriel David, Olivier Roche, Guillaume de la Houssaye, Sandrine Boutboul, Cecile Marsac

Mol Vis· December 2006

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

Mol Genet Metab· October 2006

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Leigh's disease due to a new mutation in the PDHX gene.
Manuel Schiff, Manuele Miné, Michèle Brivet, Cécile Marsac, Monique Elmaleh-Bergés

Ann Neurol· April 2006

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Eight previously unidentified mutations found in the OA1 ocular albinism gene.
Hélène Mayeur, Olivier Roche, Christelle Vêtu, Carolina Jaliffa, Dominique Marchant, Cécile Marsac

BMC Med Genet· April 2006

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Pyruvate carboxylase deficiency: metabolic characteristics and new neurological aspects.
Angels García-Cazorla, Daniel Rabier, Guy Touati, Bernadette Chadefaux-Vekemans, Cécile Marsac

Ann Neurol· January 2006

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Stimulation of mitochondrial activity by p43 overexpression induces human dermal fibroblast transformation.
Stéphanie Grandemange, Pascal Seyer, Angel Carazo, Philippe Bécuwe, Laurence Pessemesse, Cécile Marsac

Cancer Res· May 2005

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The SR protein SC35 is responsible for aberrant splicing of the E1alpha pyruvate dehydrogenase mRNA in a case of mental retardation with lactic acidosis.
Mathieu Gabut, Manuèle Miné, Cécile Marsac, Michèle Brivet, Jamal Tazi

Mol Cell Biol· April 2005

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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.
Eric M Dufour, Emeline Nandrot, Dominique Marchant, Loïc Van Den Berghe, Stéphanie Gadin, Cécile Marsac

Neurobiol Dis· November 2003

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Functionalized self-assembled monolayer on gold for detection of human mitochondrial tRNA gene mutations.
Weidong Du, Cécile Marsac, Margit Kruschina, Flavio Ortigao, Catherine Florentz

Anal Biochem· November 2003

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Proteomic consequences of a human mitochondrial tRNA mutation beyond the frame of mitochondrial translation.
Petra Tryoen-Tóth, Sophie Richert, Bénédicte Sohm, Manuele Mine, Cécile Marsac

J Biol Chem· July 2003

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Differential effect of DCA treatment on the pyruvate dehydrogenase complex in patients with severe PDHC deficiency.
Françoise Fouque, Michelle Brivet, Audrey Boutron, Christiane Vequaud, Cécile Marsac

Pediatr Res· May 2003

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Splicing error in E1alpha pyruvate dehydrogenase mRNA caused by novel intronic mutation responsible for lactic acidosis and mental retardation.
Manuèle Miné, Michèle Brivet, Guy Touati, Paula Grabowski, Marc Abitbol, Cécile Marsac

J Biol Chem· April 2003

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A new case of pyruvate dehydrogenase deficiency due to a novel mutation in the PDX1 gene.
Runu Dey, Manuele Mine, Isabelle Desguerre, Abdelhamid Slama, Loic Van Den Berghe, Cécile Marsac

Ann Neurol· February 2003

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

Mol Genet Metab· August 2002

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