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SLC13A3 variants cause acute reversible leukoencephalopathy and α-ketoglutarate accumulation.
Dewulf JP, Wiame E, Dorboz I, Elmaleh-Bergès M, Imbard A, Dumitriu D, Rak M, Bourillon A, Helaers R, Malla A, Renaldo F, Boespflug-Tanguy O, Vincent MF, Benoist JF, Wevers RA, Schlessinger A, Van Schaftingen E, Nassogne MC, Schiff M. Dewulf JP, et al. Among authors: rak m. Ann Neurol. 2019 Mar;85(3):385-395. doi: 10.1002/ana.25412. Epub 2019 Jan 29. Ann Neurol. 2019. PMID: 30635937
Mitochondrial cytochrome c oxidase deficiency.
Rak M, Bénit P, Chrétien D, Bouchereau J, Schiff M, El-Khoury R, Tzagoloff A, Rustin P. Rak M, et al. Clin Sci (Lond). 2016 Mar;130(6):393-407. doi: 10.1042/CS20150707. Clin Sci (Lond). 2016. PMID: 26846578 Free PMC article. Review.
ANT2-defective fibroblasts exhibit normal mitochondrial bioenergetics.
Prabhu D, Goldstein AC, El-Khoury R, Rak M, Edmunds L, Rustin P, Vockley J, Schiff M. Prabhu D, et al. Among authors: rak m. Mol Genet Metab Rep. 2015 Jun 1;3:43-46. doi: 10.1016/j.ymgmr.2015.03.005. Mol Genet Metab Rep. 2015. PMID: 26000237 Free PMC article.
Arabidopsis thaliana alternative dehydrogenases: a potential therapy for mitochondrial complex I deficiency? Perspectives and pitfalls.
Catania A, Iuso A, Bouchereau J, Kremer LS, Paviolo M, Terrile C, Bénit P, Rasmusson AG, Schwarzmayr T, Tiranti V, Rustin P, Rak M, Prokisch H, Schiff M. Catania A, et al. Among authors: rak m. Orphanet J Rare Dis. 2019 Oct 29;14(1):236. doi: 10.1186/s13023-019-1185-3. Orphanet J Rare Dis. 2019. PMID: 31665043 Free PMC article.
SLC25A32 Mutations and Riboflavin-Responsive Exercise Intolerance.
Schiff M, Veauville-Merllié A, Su CH, Tzagoloff A, Rak M, Ogier de Baulny H, Boutron A, Smedts-Walters H, Romero NB, Rigal O, Rustin P, Vianey-Saban C, Acquaviva-Bourdain C. Schiff M, et al. Among authors: rak m. N Engl J Med. 2016 Feb 25;374(8):795-7. doi: 10.1056/NEJMc1513610. N Engl J Med. 2016. PMID: 26933868 Free PMC article. No abstract available.
Evolutionarily conserved susceptibility of the mitochondrial respiratory chain to SDHI pesticides and its consequence on the impact of SDHIs on human cultured cells.
Bénit P, Kahn A, Chretien D, Bortoli S, Huc L, Schiff M, Gimenez-Roqueplo AP, Favier J, Gressens P, Rak M, Rustin P. Bénit P, et al. Among authors: rak m. PLoS One. 2019 Nov 7;14(11):e0224132. doi: 10.1371/journal.pone.0224132. eCollection 2019. PLoS One. 2019. PMID: 31697708 Free PMC article.
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: rak m. 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.
157 results