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Year Number of Results
2016 2
2017 1
2018 2
2019 1
2020 3
2023 2
2024 0

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11 results

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Page 1
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
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. Among authors: gonzalez quintana a. Mitochondrion. 2016 Sep;30:51-8. doi: 10.1016/j.mito.2016.06.007. Epub 2016 Jun 30. Mitochondrion. 2016. PMID: 27374853
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
Integration of Phenotype Term Prioritization and Gene Expression Analysis Reveals a Novel Variant in the PERP Gene Associated with Autosomal Recessive Erythrokeratoderma.
González-Quintana A, Garrido-Moraga R, Palencia-Pérez SI, Hernández-Martín Á, Sánchez-Munárriz J, Lezana-Rosales JM, Quesada-Espinosa JF, Martín MA, Arteche-López A. González-Quintana A, et al. Genes (Basel). 2023 Jul 22;14(7):1494. doi: 10.3390/genes14071494. Genes (Basel). 2023. PMID: 37510397 Free PMC article.
A Novel Mutation Associated with Neonatal Lethal Cardiomyopathy Leads to an Alternative Transcript Expression in the X-Linked Complex I NDUFB11 Gene.
Amate-García G, Ballesta-Martínez MJ, Serrano-Lorenzo P, Garrido-Moraga R, González-Quintana A, Blázquez A, Rubio JC, García-Consuegra I, Arenas J, Ugalde C, Morán M, Guillén-Navarro E, Martín MA. Amate-García G, et al. Among authors: gonzalez quintana a. Int J Mol Sci. 2023 Jan 16;24(2):1743. doi: 10.3390/ijms24021743. Int J Mol Sci. 2023. PMID: 36675256 Free PMC article.
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
Genotypic and phenotypic features of all Spanish patients with McArdle disease: a 2016 update.
Santalla A, Nogales-Gadea G, Encinar AB, Vieitez I, González-Quintana A, Serrano-Lorenzo P, Consuegra IG, Asensio S, Ballester-Lopez A, Pintos-Morell G, Coll-Cantí J, Pareja-Galeano H, Díez-Bermejo J, Pérez M, Andreu AL, Pinós T, Arenas J, Martín MA, Lucia A. Santalla A, et al. Among authors: gonzalez quintana a. BMC Genomics. 2017 Nov 14;18(Suppl 8):819. doi: 10.1186/s12864-017-4188-2. BMC Genomics. 2017. PMID: 29143597 Free PMC article.
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
11 results