Chretien D - Search Results

1

ACO2 mutations: A novel phenotype associating severe optic atrophy and spastic paraplegia.

Marelli C, Hamel C, Quiles M, Carlander B, Larrieu L, Delettre C, Sarzi E, Chretien D, Rustin P, Koenig M, Guissart C. Marelli C, et al. Among authors: chretien d. Neurol Genet. 2018 Mar 20;4(2):e225. doi: 10.1212/NXG.0000000000000225. eCollection 2018 Apr. Neurol Genet. 2018. PMID: 29564393 Free PMC article. No abstract available.

2

Mini-Exome Coupled to Read-Depth Based Copy Number Variation Analysis in Patients with Inherited Ataxias.

Marelli C, Guissart C, Hubsch C, Renaud M, Villemin JP, Larrieu L, Charles P, Ayrignac X, Sacconi S, Collignon P, Cuntz-Shadfar D, Perrin L, Benarrosh A, Degardin A, Lagha-Boukbiza O, Mutez E, Carlander B, Morales RJ, Gonzalez V, Carra-Dalliere C, Azakri S, Mignard C, Ollagnon E, Pageot N, Chretien D, Geny C, Azulay JP, Tranchant C, Claustres M, Labauge P, Anheim M, Goizet C, Calvas P, Koenig M. Marelli C, et al. Among authors: chretien d. Hum Mutat. 2016 Dec;37(12):1340-1353. doi: 10.1002/humu.23063. Epub 2016 Sep 2. Hum Mutat. 2016. PMID: 27528516

3

Twinkle helicase (PEO1) gene mutation causes mitochondrial DNA depletion.

Sarzi E, Goffart S, Serre V, Chrétien D, Slama A, Munnich A, Spelbrink JN, Rötig A. Sarzi E, et al. Among authors: chretien d. Ann Neurol. 2007 Dec;62(6):579-87. doi: 10.1002/ana.21207. Ann Neurol. 2007. PMID: 17722119

4

Mutation of RRM2B, encoding p53-controlled ribonucleotide reductase (p53R2), causes severe mitochondrial DNA depletion.

Bourdon A, Minai L, Serre V, Jais JP, Sarzi E, Aubert S, Chrétien D, de Lonlay P, Paquis-Flucklinger V, Arakawa H, Nakamura Y, Munnich A, Rötig A. Bourdon A, et al. Among authors: chretien d. Nat Genet. 2007 Jun;39(6):776-80. doi: 10.1038/ng2040. Epub 2007 May 7. Nat Genet. 2007. PMID: 17486094

5

Respiratory chain defects: what do we know for sure about their consequences in vivo?

Brière JJ, Chrétien D, Bénit P, Rustin P. Brière JJ, et al. Among authors: chretien d. Biochim Biophys Acta. 2004 Dec 6;1659(2-3):172-7. doi: 10.1016/j.bbabio.2004.07.002. Biochim Biophys Acta. 2004. PMID: 15576049 Free article. Review.

6

A novel recurrent mitochondrial DNA mutation in ND3 gene is associated with isolated complex I deficiency causing Leigh syndrome and dystonia.

Sarzi E, Brown MD, Lebon S, Chretien D, Munnich A, Rotig A, Procaccio V. Sarzi E, et al. Among authors: chretien d. Am J Med Genet A. 2007 Jan 1;143A(1):33-41. doi: 10.1002/ajmg.a.31565. Am J Med Genet A. 2007. PMID: 17152068

7

Coenzyme Q(10) and idebenone in the therapy of respiratory chain diseases: rationale and comparative benefits.

Geromel V, Darin N, Chrétien D, Bénit P, DeLonlay P, Rötig A, Munnich A, Rustin P. Geromel V, et al. Among authors: chretien d. Mol Genet Metab. 2002 Sep-Oct;77(1-2):21-30. doi: 10.1016/s1096-7192(02)00145-2. Mol Genet Metab. 2002. PMID: 12359126 Review.

8

Genotyping microsatellite DNA markers at putative disease loci in inbred/multiplex families with respiratory chain complex I deficiency allows rapid identification of a novel nonsense mutation (IVS1nt -1) in the NDUFS4 gene in Leigh syndrome.

Bénit P, Steffann J, Lebon S, Chretien D, Kadhom N, de Lonlay P, Goldenberg A, Dumez Y, Dommergues M, Rustin P, Munnich A, Rötig A. Bénit P, et al. Among authors: chretien d. Hum Genet. 2003 May;112(5-6):563-6. doi: 10.1007/s00439-002-0884-2. Epub 2003 Mar 4. Hum Genet. 2003. PMID: 12616398

9

An Effective, Versatile, and Inexpensive Device for Oxygen Uptake Measurement.

Bénit P, Chrétien D, Porceddu M, Yanicostas C, Rak M, Rustin P. Bénit P, et al. Among authors: chretien d. J Clin Med. 2017 Jun 8;6(6):58. doi: 10.3390/jcm6060058. J Clin Med. 2017. PMID: 28594349 Free PMC article.

10

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. Curr Med Chem. 2004 Jan;11(2):233-9. doi: 10.2174/0929867043456151. Curr Med Chem. 2004. PMID: 14754419 Review.

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