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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1995 1
1998 2
1999 1
2000 1
2002 1
2004 2
2006 1
2007 1
2009 3
2010 1
2011 2
2012 1
2013 2
2014 4
2015 2
2016 1
2017 4
2018 2
2019 3
2020 3
2021 3
2022 1
2024 1

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40 results

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Page 1
Mutations of GEMIN5 are associated with coenzyme Q10 deficiency: long-term follow-up after treatment.
Cascajo-Almenara MV, Juliá-Palacios N, Urreizti R, Sánchez-Cuesta A, Fernández-Ayala DM, García-Díaz E, Oliva C, O Callaghan MDM, Paredes-Fuentes AJ, Moreno-Lozano PJ, Muchart J, Nascimento A, Ortez CI, Natera-de Benito D, Pineda M, Rivera N, Fortuna TR, Rajan DS, Navas P, Salviati L, Palau F, Yubero D, García-Cazorla A, Pandey UB, Santos-Ocaña C, Artuch R. Cascajo-Almenara MV, et al. Among authors: santos ocana c. Eur J Hum Genet. 2024 Apr;32(4):426-434. doi: 10.1038/s41431-023-01526-2. Epub 2024 Feb 5. Eur J Hum Genet. 2024. PMID: 38316953
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.
Cellular Models for Primary CoQ Deficiency Pathogenesis Study.
Santos-Ocaña C, Cascajo MV, Alcázar-Fabra M, Staiano C, López-Lluch G, Brea-Calvo G, Navas P. Santos-Ocaña C, et al. Int J Mol Sci. 2021 Sep 22;22(19):10211. doi: 10.3390/ijms221910211. Int J Mol Sci. 2021. PMID: 34638552 Free PMC article. Review.
Secondary CoQ10 deficiency, bioenergetics unbalance in disease and aging.
Navas P, Cascajo MV, Alcázar-Fabra M, Hernández-Camacho JD, Sánchez-Cuesta A, Rodríguez ABC, Ballesteros-Simarro M, Arroyo-Luque A, Rodríguez-Aguilera JC, Fernández-Ayala DJM, Brea-Calvo G, López-Lluch G, Santos-Ocaña C. Navas P, et al. Among authors: santos ocana c. Biofactors. 2021 Jul;47(4):551-569. doi: 10.1002/biof.1733. Epub 2021 Apr 20. Biofactors. 2021. PMID: 33878238 Review.
Laboratory Diagnosis of a Case with Coenzyme Q10 Deficiency.
Paredes-Fuentes AJ, Julià-Palacios NA, Montero R, Yubero D, Cascajo-Almenara MV, García-Cazorla À, Santos-Ocaña C, Artuch R. Paredes-Fuentes AJ, et al. Among authors: santos ocana c. Clin Chem. 2020 Nov 1;66(11):1465-1467. doi: 10.1093/clinchem/hvaa202. Clin Chem. 2020. PMID: 33141909 No abstract available.
Coenzyme Q10 Treatment Monitoring in Different Human Biological Samples.
Paredes-Fuentes AJ, Montero R, Codina A, Jou C, Fernández G, Maynou J, Santos-Ocaña C, Riera J, Navas P, Drobnic F, Artuch R. Paredes-Fuentes AJ, et al. Among authors: santos ocana c. Antioxidants (Basel). 2020 Oct 13;9(10):979. doi: 10.3390/antiox9100979. Antioxidants (Basel). 2020. PMID: 33066002 Free PMC article.
Design of High-Throughput Screening of Natural Extracts to Identify Molecules Bypassing Primary Coenzyme Q Deficiency in Saccharomyces cerevisiae.
Berenguel Hernández AM, de la Cruz M, Alcázar-Fabra M, Prieto-Rodríguez A, Sánchez-Cuesta A, Martin J, Tormo JR, Rodríguez-Aguilera JC, Cortés-Rodríguez AB, Navas P, Reyes F, Vicente F, Genilloud O, Santos-Ocaña C. Berenguel Hernández AM, et al. Among authors: santos ocana c. SLAS Discov. 2020 Mar;25(3):299-309. doi: 10.1177/2472555219877185. Epub 2019 Nov 21. SLAS Discov. 2020. PMID: 31751168 Free article.
Inadequate control of thyroid hormones sensitizes to hepatocarcinogenesis and unhealthy aging.
López-Noriega L, Capilla-González V, Cobo-Vuilleumier N, Martin-Vazquez E, Lorenzo PI, Martinez-Force E, Soriano-Navarro M, García-Fernández M, Romero-Zerbo SY, Bermúdez-Silva FJ, Díaz-Contreras I, Sánchez-Cuesta A, Santos-Ocaña C, Hmadcha A, Soria B, Martín F, Gauthier BR, Martin-Montalvo A. López-Noriega L, et al. Among authors: santos ocana c. Aging (Albany NY). 2019 Sep 13;11(18):7746-7779. doi: 10.18632/aging.102285. Epub 2019 Sep 13. Aging (Albany NY). 2019. PMID: 31518338 Free PMC article.
ADCK2 Haploinsufficiency Reduces Mitochondrial Lipid Oxidation and Causes Myopathy Associated with CoQ Deficiency.
Vázquez-Fonseca L, Schaefer J, Navas-Enamorado I, Santos-Ocaña C, Hernández-Camacho JD, Guerra I, Cascajo MV, Sánchez-Cuesta A, Horvath Z, Siendones E, Jou C, Casado M, Gutiérrez P, Brea-Calvo G, López-Lluch G, Fernández-Ayala DJM, Cortés-Rodríguez AB, Rodríguez-Aguilera JC, Matté C, Ribes A, Prieto-Soler SY, Dominguez-Del-Toro E, Francesco AD, Aon MA, Bernier M, Salviati L, Artuch R, Cabo R, Jackson S, Navas P. Vázquez-Fonseca L, et al. Among authors: santos ocana c. J Clin Med. 2019 Sep 2;8(9):1374. doi: 10.3390/jcm8091374. J Clin Med. 2019. PMID: 31480808 Free PMC article.
40 results