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The Journal of Biological Chemistry|January 29, 2003
Splicing error in E1alpha pyruvate dehydrogenase mRNA caused by novel intronic mutation responsible for lactic acidosis and mental retardationManuèle Miné, Michèle Brivet, Guy Touati, et al.
Molecular and Cellular Biology|March 31, 2005
The SR protein SC35 is responsible for aberrant splicing of the E1alpha pyruvate dehydrogenase mRNA in a case of mental retardation with lactic acidosisMathieu Gabut, Manuèle Miné, Cécile Marsac, et al.
Molecular Genetics and Metabolism|July 18, 2006
A novel gross deletion caused by non-homologous recombination of the PDHX gene in a patient with pyruvate dehydrogenase deficiencyManuèle Miné, Michèle Brivet, Manuel Schiff, et al.
Molecular Genetics and Metabolism|November 1, 2005
First characterization of a large deletion of the PDHA 1 geneMichèle Brivet, Marie-Laure Moutard, Mokhtar Zater, et al.
European Journal of Pediatrics|March 9, 2006
Partial hypoparathyroidism associated with mitochondrial trifunctional protein deficiencyFrançois Labarthe, Jean François Benoist, Michèle Brivet, et al.
Journal of Inherited Metabolic Disease|October 12, 2012
Clinical and biological features at diagnosis in mitochondrial fatty acid beta-oxidation defects: a French pediatric study of 187 patientsJulien Baruteau, Philippe Sachs, Pierre Broué, et al.
Annals of Neurology|March 28, 2006
Leigh's disease due to a new mutation in the PDHX geneManuel Schiff, Manuele Miné, Michèle Brivet, et al.
Molecular Genetics and Metabolism|January 27, 2009
Rapid screening for nuclear genes mutations in isolated respiratory chain complex I defectsHélène Pagniez-Mammeri, Anne Lombes, Michèle Brivet, et al.
European Journal of Medical Genetics|July 7, 2012
Pyruvate dehydrogenase deficiency caused by a new mutation of PDHX gene in two Moroccan patientsMariam Tajir, Jean Baptiste Arnoux, Audrey Boutron, et al.
Fertility and Sterility|July 29, 2010
Ovarian tissue cryopreservation and subsequent spontaneous pregnancies in a patient with classic galactosemiaThierry Forges, Patricia Monnier, Bruno Leheup, et al.
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