Legrand A - Search Results

1

Impaired mitochondrial pyruvate importation in a patient and a fetus at risk.

Brivet M, Garcia-Cazorla A, Lyonnet S, Dumez Y, Nassogne MC, Slama A, Boutron A, Touati G, Legrand A, Saudubray JM. Brivet M, et al. Among authors: legrand a. Mol Genet Metab. 2003 Mar;78(3):186-92. doi: 10.1016/s1096-7192(03)00016-7. Mol Genet Metab. 2003. PMID: 12649063

2

A deletion in the human QP-C gene causes a complex III deficiency resulting in hypoglycaemia and lactic acidosis.

Haut S, Brivet M, Touati G, Rustin P, Lebon S, Garcia-Cazorla A, Saudubray JM, Boutron A, Legrand A, Slama A. Haut S, et al. Among authors: legrand a. Hum Genet. 2003 Jul;113(2):118-22. doi: 10.1007/s00439-003-0946-0. Epub 2003 Apr 23. Hum Genet. 2003. PMID: 12709789

3

The deleterious G15498A mutation in mitochondrial DNA-encoded cytochrome b may remain clinically silent in homoplasmic carriers.

Haut S, de Villemeur TB, Brivet M, Guiochon-Mantel A, Boutron A, Rustin P, Legrand A, Slama A. Haut S, et al. Among authors: legrand a. Eur J Hum Genet. 2004 Mar;12(3):220-4. doi: 10.1038/sj.ejhg.5201132. Eur J Hum Genet. 2004. PMID: 14735157

4

Rapid screening for nuclear genes mutations in isolated respiratory chain complex I defects.

Pagniez-Mammeri H, Lombes A, Brivet M, Ogier-de Baulny H, Landrieu P, Legrand A, Slama A. Pagniez-Mammeri H, et al. Among authors: legrand a. Mol Genet Metab. 2009 Apr;96(4):196-200. doi: 10.1016/j.ymgme.2008.12.003. Epub 2009 Jan 22. Mol Genet Metab. 2009. PMID: 19167255

5

Mitochondrial complex I deficiency of nuclear origin II. Non-structural genes.

Pagniez-Mammeri H, Rak M, Legrand A, Bénit P, Rustin P, Slama A. Pagniez-Mammeri H, et al. Among authors: legrand a. Mol Genet Metab. 2012 Feb;105(2):173-9. doi: 10.1016/j.ymgme.2011.10.001. Epub 2011 Oct 20. Mol Genet Metab. 2012. PMID: 22099533 Review.

6

Mitochondrial complex I deficiency of nuclear origin I. Structural genes.

Pagniez-Mammeri H, Loublier S, Legrand A, Bénit P, Rustin P, Slama A. Pagniez-Mammeri H, et al. Among authors: legrand a. Mol Genet Metab. 2012 Feb;105(2):163-72. doi: 10.1016/j.ymgme.2011.11.188. Epub 2011 Nov 18. Mol Genet Metab. 2012. PMID: 22142868 Review.

7

Mutational spectrum and DNA-based prenatal diagnosis in carnitine-acylcarnitine translocase deficiency.

Costa C, Costa JM, Slama A, Boutron A, Vequaud C, Legrand A, Brivet M. Costa C, et al. Among authors: legrand a. Mol Genet Metab. 2003 Jan;78(1):68-73. doi: 10.1016/s1096-7192(02)00205-6. Mol Genet Metab. 2003. PMID: 12559850

8

First characterization of a large deletion of the PDHA 1 gene.

Brivet M, Moutard ML, Zater M, Venet L, Chenel C, Mine M, Legrand A. Brivet M, et al. Among authors: legrand a. Mol Genet Metab. 2005 Dec;86(4):456-61. doi: 10.1016/j.ymgme.2005.08.009. Epub 2005 Oct 25. Mol Genet Metab. 2005. PMID: 16256390

9

Deoxyguanosine kinase mutations and combined deficiencies of the mitochondrial respiratory chain in patients with hepatic involvement.

Slama A, Giurgea I, Debrey D, Bridoux D, de Lonlay P, Levy P, Chretien D, Brivet M, Legrand A, Rustin P, Munnich A, Rötig A. Slama A, et al. Among authors: legrand a. Mol Genet Metab. 2005 Dec;86(4):462-5. doi: 10.1016/j.ymgme.2005.09.006. Epub 2005 Nov 2. Mol Genet Metab. 2005. PMID: 16263314

10

Two silent substitutions in the PDHA1 gene cause exon 5 skipping by disruption of a putative exonic splicing enhancer.

Boichard A, Venet L, Naas T, Boutron A, Chevret L, de Baulny HO, De Lonlay P, Legrand A, Nordman P, Brivet M. Boichard A, et al. Among authors: legrand a. Mol Genet Metab. 2008 Mar;93(3):323-30. doi: 10.1016/j.ymgme.2007.09.020. Epub 2007 Nov 26. Mol Genet Metab. 2008. PMID: 18023225

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