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Lethal Neonatal Progression of Fetal Cardiomegaly Associated to ACAD9 Deficiency.
Lagoutte-Renosi J, Ségalas-Milazzo I, Crahes M, Renosi F, Menu-Bouaouiche L, Torre S, Lardennois C, Rio M, Marret S, Brasse-Lagnel C, Laquerrière A, Bekri S. Lagoutte-Renosi J, et al. Among authors: rio m. JIMD Rep. 2015 Oct 17;28:1-10. doi: 10.1007/8904_2015_499. Online ahead of print. JIMD Rep. 2015. PMID: 26475292 Free PMC article.
Exome sequencing identifies MRPL3 mutation in mitochondrial cardiomyopathy.
Galmiche L, Serre V, Beinat M, Assouline Z, Lebre AS, Chretien D, Nietschke P, Benes V, Boddaert N, Sidi D, Brunelle F, Rio M, Munnich A, Rötig A. Galmiche L, et al. Among authors: rio m. Hum Mutat. 2011 Nov;32(11):1225-31. doi: 10.1002/humu.21562. Epub 2011 Sep 14. Hum Mutat. 2011. PMID: 21786366
Toward genotype phenotype correlations in GFM1 mutations.
Galmiche L, Serre V, Beinat M, Zossou R, Assouline Z, Lebre AS, Chretien F, Shenhav R, Zeharia A, Saada A, Vedrenne V, Boddaert N, de Lonlay P, Rio M, Munnich A, Rötig A. Galmiche L, et al. Among authors: rio m. Mitochondrion. 2012 Mar;12(2):242-7. doi: 10.1016/j.mito.2011.09.007. Epub 2011 Oct 1. Mitochondrion. 2012. PMID: 21986555
Infantile and pediatric quinone deficiency diseases.
Rötig A, Mollet J, Rio M, Munnich A. Rötig A, et al. Among authors: rio m. Mitochondrion. 2007 Jun;7 Suppl:S112-21. doi: 10.1016/j.mito.2007.02.008. Epub 2007 Mar 16. Mitochondrion. 2007. PMID: 17442627 Review.
A constant and similar assembly defect of mitochondrial respiratory chain complex I allows rapid identification of NDUFS4 mutations in patients with Leigh syndrome.
Assouline Z, Jambou M, Rio M, Bole-Feysot C, de Lonlay P, Barnerias C, Desguerre I, Bonnemains C, Guillermet C, Steffann J, Munnich A, Bonnefont JP, Rötig A, Lebre AS. Assouline Z, et al. Among authors: rio m. Biochim Biophys Acta. 2012 Jun;1822(6):1062-9. doi: 10.1016/j.bbadis.2012.01.013. Epub 2012 Feb 3. Biochim Biophys Acta. 2012. PMID: 22326555 Free article.
Mutations in Complex I Assembly Factor TMEM126B Result in Muscle Weakness and Isolated Complex I Deficiency.
Sánchez-Caballero L, Ruzzenente B, Bianchi L, Assouline Z, Barcia G, Metodiev MD, Rio M, Funalot B, van den Brand MA, Guerrero-Castillo S, Molenaar JP, Koolen D, Brandt U, Rodenburg RJ, Nijtmans LG, Rötig A. Sánchez-Caballero L, et al. Among authors: rio m. Am J Hum Genet. 2016 Jul 7;99(1):208-16. doi: 10.1016/j.ajhg.2016.05.022. Epub 2016 Jun 30. Am J Hum Genet. 2016. PMID: 27374773 Free PMC article.
Impaired mitochondrial glutamate transport in autosomal recessive neonatal myoclonic epilepsy.
Molinari F, Raas-Rothschild A, Rio M, Fiermonte G, Encha-Razavi F, Palmieri L, Palmieri F, Ben-Neriah Z, Kadhom N, Vekemans M, Attie-Bitach T, Munnich A, Rustin P, Colleaux L. Molinari F, et al. Among authors: rio m. Am J Hum Genet. 2005 Feb;76(2):334-9. doi: 10.1086/427564. Epub 2004 Dec 8. Am J Hum Genet. 2005. PMID: 15592994 Free PMC article.
1H MRS spectroscopy evidence of cerebellar high lactate in mitochondrial respiratory chain deficiency.
Boddaert N, Romano S, Funalot B, Rio M, Sarzi E, Lebre AS, Bahi-Buisson N, Valayannopoulos V, Desguerre I, Seidenwurm D, Brunelle F, Brami-Zylberberg F, Rötig A, Munnich A, de Lonlay P. Boddaert N, et al. Among authors: rio m. Mol Genet Metab. 2008 Jan;93(1):85-8. doi: 10.1016/j.ymgme.2007.09.003. Epub 2007 Oct 22. Mol Genet Metab. 2008. PMID: 17950645
1,117 results