Slama A - Search Results

1

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: slama 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.

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: slama 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: slama 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

Revisiting pitfalls, problems and tentative solutions for assaying mitochondrial respiratory chain complex III in human samples.

Chretien D, Slama A, Brière JJ, Munnich A, Rötig A, Rustin P. Chretien D, et al. Among authors: slama a. Curr Med Chem. 2004 Jan;11(2):233-9. doi: 10.2174/0929867043456151. Curr Med Chem. 2004. PMID: 14754419 Review.

5

Respiratory chain defects may present only with hypoglycemia.

Mochel F, Slama A, Touati G, Desguerre I, Giurgea I, Rabier D, Brivet M, Rustin P, Saudubray JM, DeLonlay P. Mochel F, et al. Among authors: slama a. J Clin Endocrinol Metab. 2005 Jun;90(6):3780-5. doi: 10.1210/jc.2005-0009. Epub 2005 Mar 22. J Clin Endocrinol Metab. 2005. PMID: 15784700

6

A novel mutation in the human complex I NDUFS7 subunit associated with Leigh syndrome.

Lebon S, Rodriguez D, Bridoux D, Zerrad A, Rötig A, Munnich A, Legrand A, Slama A. Lebon S, et al. Among authors: slama a. Mol Genet Metab. 2007 Apr;90(4):379-82. doi: 10.1016/j.ymgme.2006.12.007. Epub 2007 Feb 1. Mol Genet Metab. 2007. PMID: 17275378

7

Decylubiquinol impedes mitochondrial respiratory chain complex I activity.

Bénit P, Slama A, Rustin P. Bénit P, et al. Among authors: slama a. Mol Cell Biochem. 2008 Jul;314(1-2):45-50. doi: 10.1007/s11010-008-9763-z. Epub 2008 Apr 15. Mol Cell Biochem. 2008. PMID: 18414996

8

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: slama 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

9

Leukoencephalopathy with vanishing white matter caused by compound heterozygous mutations in mitochondrial complex I NDUFS1 subunit.

Pagniez-Mammeri H, Landrieu P, Legrand A, Slama A. Pagniez-Mammeri H, et al. Among authors: slama a. Mol Genet Metab. 2010 Oct-Nov;101(2-3):297-8. doi: 10.1016/j.ymgme.2010.07.005. Epub 2010 Jul 17. Mol Genet Metab. 2010. PMID: 20797884 No abstract available.

10

Novel FH mutations in families with hereditary leiomyomatosis and renal cell cancer (HLRCC) and patients with isolated type 2 papillary renal cell carcinoma.

Gardie B, Remenieras A, Kattygnarath D, Bombled J, Lefèvre S, Perrier-Trudova V, Rustin P, Barrois M, Slama A, Avril MF, Bessis D, Caron O, Caux F, Collignon P, Coupier I, Cremin C, Dollfus H, Dugast C, Escudier B, Faivre L, Field M, Gilbert-Dussardier B, Janin N, Leport Y, Leroux D, Lipsker D, Malthieu F, McGilliwray B, Maugard C, Méjean A, Mortemousque I, Plessis G, Poppe B, Pruvost-Balland C, Rooker S, Roume J, Soufir N, Steinraths M, Tan MH, Théodore C, Thomas L, Vabres P, Van Glabeke E, Meric JB, Verkarre V, Lenoir G, Joulin V, Deveaux S, Cusin V, Feunteun J, Teh BT, Bressac-de Paillerets B, Richard S; French National Cancer Institute "Inherited predisposition to kidney cancer" network. Gardie B, et al. Among authors: slama a. J Med Genet. 2011 Apr;48(4):226-34. doi: 10.1136/jmg.2010.085068. Epub 2011 Mar 12. J Med Genet. 2011. PMID: 21398687 Free article.

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