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Tissue- and cell-specific mitochondrial defect in Parkin-deficient mice.
Damiano M, Gautier CA, Bulteau AL, Ferrando-Miguel R, Gouarne C, Paoli MG, Pruss R, Auchère F, L'Hermitte-Stead C, Bouillaud F, Brice A, Corti O, Lombès A. Damiano M, et al. Among authors: lombes a. PLoS One. 2014 Jun 24;9(6):e99898. doi: 10.1371/journal.pone.0099898. eCollection 2014. PLoS One. 2014. PMID: 24959870 Free PMC article.
Effect of Lon protease knockdown on mitochondrial function in HeLa cells.
Bayot A, Gareil M, Chavatte L, Hamon MP, L'Hermitte-Stead C, Beaumatin F, Priault M, Rustin P, Lombès A, Friguet B, Bulteau AL. Bayot A, et al. Among authors: lombes a. Biochimie. 2014 May;100:38-47. doi: 10.1016/j.biochi.2013.12.005. Epub 2013 Dec 17. Biochimie. 2014. PMID: 24355201
Muscle coenzyme Q10 deficiencies in ataxia with oculomotor apraxia 1.
Le Ber I, Dubourg O, Benoist JF, Jardel C, Mochel F, Koenig M, Brice A, Lombès A, Dürr A. Le Ber I, et al. Among authors: lombes a. Neurology. 2007 Jan 23;68(4):295-7. doi: 10.1212/01.wnl.0000252366.10731.43. Neurology. 2007. PMID: 17242337
A diagnostic flow chart for POLG-related diseases based on signs sensitivity and specificity.
Tchikviladzé M, Gilleron M, Maisonobe T, Galanaud D, Laforêt P, Durr A, Eymard B, Mochel F, Ogier H, Béhin A, Stojkovic T, Degos B, Gourfinkel-An I, Sedel F, Anheim M, Elbaz A, Viala K, Vidailhet M, Brice A, Jardel C, Lombès A. Tchikviladzé M, et al. Among authors: lombes a. J Neurol Neurosurg Psychiatry. 2015 Jun;86(6):646-54. doi: 10.1136/jnnp-2013-306799. Epub 2014 Aug 11. J Neurol Neurosurg Psychiatry. 2015. PMID: 25118206
Mutations in CYC1, encoding cytochrome c1 subunit of respiratory chain complex III, cause insulin-responsive hyperglycemia.
Gaignard P, Menezes M, Schiff M, Bayot A, Rak M, Ogier de Baulny H, Su CH, Gilleron M, Lombes A, Abida H, Tzagoloff A, Riley L, Cooper ST, Mina K, Sivadorai P, Davis MR, Allcock RJ, Kresoje N, Laing NG, Thorburn DR, Slama A, Christodoulou J, Rustin P. Gaignard P, et al. Among authors: lombes a. Am J Hum Genet. 2013 Aug 8;93(2):384-9. doi: 10.1016/j.ajhg.2013.06.015. Epub 2013 Aug 1. Am J Hum Genet. 2013. PMID: 23910460 Free PMC article.
187 results