Slama A - Search Results

1

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

2

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.

3

Mitochondrial DNA depletion is a prevalent cause of multiple respiratory chain deficiency in childhood.

Sarzi E, Bourdon A, Chrétien D, Zarhrate M, Corcos J, Slama A, Cormier-Daire V, de Lonlay P, Munnich A, Rötig A. Sarzi E, et al. Among authors: slama a. J Pediatr. 2007 May;150(5):531-4, 534.e1-6. doi: 10.1016/j.jpeds.2007.01.044. J Pediatr. 2007. PMID: 17452231

4

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

5

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

6

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

7

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

8

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.

9

A new case of pyruvate dehydrogenase deficiency due to a novel mutation in the PDX1 gene.

Dey R, Mine M, Desguerre I, Slama A, Van Den Berghe L, Brivet M, Aral B, Marsac C. Dey R, et al. Among authors: slama a. Ann Neurol. 2003 Feb;53(2):273-7. doi: 10.1002/ana.10478. Ann Neurol. 2003. PMID: 12557299

10

Clinical and biochemical heterogeneity associated with fumarase deficiency.

Ottolenghi C, Hubert L, Allanore Y, Brassier A, Altuzarra C, Mellot-Draznieks C, Bekri S, Goldenberg A, Veyrieres S, Boddaert N, Barbier V, Valayannopoulos V, Slama A, Chrétien D, Ricquier D, Marret S, Frebourg T, Rabier D, Munnich A, de Keyzer Y, Toulhoat H, de Lonlay P. Ottolenghi C, et al. Among authors: slama a. Hum Mutat. 2011 Sep;32(9):1046-52. doi: 10.1002/humu.21534. Epub 2011 Jul 12. Hum Mutat. 2011. PMID: 21560188

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