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Page 1
Secondary coenzyme Q10 deficiencies in oxidative phosphorylation (OXPHOS) and non-OXPHOS disorders.
Yubero D, Montero R, Martín MA, Montoya J, Ribes A, Grazina M, Trevisson E, Rodriguez-Aguilera JC, Hargreaves IP, Salviati L, Navas P, Artuch R; CoQ deficiency study group; Jou C, Jimenez-Mallebrera C, Nascimento A, Pérez-Dueñas B, Ortez C, Ramos F, Colomer J, O'Callaghan M, Pineda M, García-Cazorla A, Espinós C, Ruiz A, Macaya A, Marcé-Grau A, Garcia-Villoria J, Arias A, Emperador S, Ruiz-Pesini E, Lopez-Gallardo E, Neergheen V, Simões M, Diogo L, Blázquez A, González-Quintana A, Delmiro A, Domínguez-González C, Arenas J, García-Silva MT, Martín E, Quijada P, Hernández-Laín A, Morán M, Rivas Infante E, Ávila Polo R, Paradas Lópe C, Bautista Lorite J, Martínez Fernández EM, Cortés AB, Sánchez-Cuesta A, Cascajo MV, Alcázar M, Brea-Calvo G. Yubero D, et al. Mitochondrion. 2016 Sep;30:51-8. doi: 10.1016/j.mito.2016.06.007. Epub 2016 Jun 30. Mitochondrion. 2016. PMID: 27374853
Taking advantage of an old concept, "illegitimate transcription", for a proposed novel method of genetic diagnosis of McArdle disease.
Garcia-Consuegra I, Blázquez A, Rubio JC, Arenas J, Ballester-Lopez A, González-Quintana A, Andreu AL, Pinós T, Coll-Cantí J, Lucia A, Nogales-Gadea G, Martín MA. Garcia-Consuegra I, et al. Genet Med. 2016 Nov;18(11):1128-1135. doi: 10.1038/gim.2015.219. Epub 2016 Feb 25. Genet Med. 2016. PMID: 26913921 Free article.
In vivo evidence of mitochondrial dysfunction and altered redox homeostasis in a genetic mouse model of propionic acidemia: Implications for the pathophysiology of this disorder.
Gallego-Villar L, Rivera-Barahona A, Cuevas-Martín C, Guenzel A, Pérez B, Barry MA, Murphy MP, Logan A, Gonzalez-Quintana A, Martín MA, Medina S, Gil-Izquierdo A, Cuezva JM, Richard E, Desviat LR. Gallego-Villar L, et al. Free Radic Biol Med. 2016 Jul;96:1-12. doi: 10.1016/j.freeradbiomed.2016.04.007. Epub 2016 Apr 12. Free Radic Biol Med. 2016. PMID: 27083476
Missense mutations have unexpected consequences: The McArdle disease paradigm.
García-Consuegra I, Asensio-Peña S, Ballester-Lopez A, Francisco-Velilla R, Pinos T, Pintos-Morell G, Coll-Cantí J, González-Quintana A, Andreu AL, Arenas J, Lucia A, Nogales-Gadea G, Martín MA. García-Consuegra I, et al. Among authors: gonzalez quintana a. Hum Mutat. 2018 Oct;39(10):1338-1343. doi: 10.1002/humu.23591. Epub 2018 Jul 26. Hum Mutat. 2018. PMID: 30011114
Different mitochondrial genetic defects exhibit the same protein signature of metabolism in skeletal muscle of PEO and MELAS patients: A role for oxidative stress.
Santacatterina F, Torresano L, Núñez-Salgado A, Esparza-Molto PB, Olive M, Gallardo E, García-Arumi E, Blazquez A, González-Quintana A, Martín MA, Cuezva JM. Santacatterina F, et al. Among authors: gonzalez quintana a. Free Radic Biol Med. 2018 Oct;126:235-248. doi: 10.1016/j.freeradbiomed.2018.08.020. Epub 2018 Aug 20. Free Radic Biol Med. 2018. PMID: 30138712
Novel ATAD3A recessive mutation associated to fatal cerebellar hypoplasia with multiorgan involvement and mitochondrial structural abnormalities.
Peralta S, González-Quintana A, Ybarra M, Delmiro A, Pérez-Pérez R, Docampo J, Arenas J, Blázquez A, Ugalde C, Martín MA. Peralta S, et al. Among authors: gonzalez quintana a. Mol Genet Metab. 2019 Dec;128(4):452-462. doi: 10.1016/j.ymgme.2019.10.012. Epub 2019 Nov 6. Mol Genet Metab. 2019. PMID: 31727539
Biallelic mutations in NDUFA8 cause complex I deficiency in two siblings with favorable clinical evolution.
Tort F, Barredo E, Parthasarathy R, Ugarteburu O, Ferrer-Cortès X, García-Villoria J, Gort L, González-Quintana A, Martín MA, Fernández-Vizarra E, Zeviani M, Ribes A. Tort F, et al. Among authors: gonzalez quintana a. Mol Genet Metab. 2020 Nov;131(3):349-357. doi: 10.1016/j.ymgme.2020.10.005. Epub 2020 Oct 13. Mol Genet Metab. 2020. PMID: 33153867
CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiative.
Luque J, Mendes I, Gómez B, Morte B, López de Heredia M, Herreras E, Corrochano V, Bueren J, Gallano P, Artuch R, Fillat C, Pérez-Jurado LA, Montoliu L, Carracedo Á, Millán JM, Webb SM, Palau F; CIBERER Network; Lapunzina P. Luque J, et al. Clin Genet. 2022 May;101(5-6):481-493. doi: 10.1111/cge.14113. Epub 2022 Feb 4. Clin Genet. 2022. PMID: 35060122 Free PMC article. Review.
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