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Page 1
Clinical presentation and proteomic signature of patients with TANGO2 mutations.
Mingirulli N, Pyle A, Hathazi D, Alston CL, Kohlschmidt N, O'Grady G, Waddell L, Evesson F, Cooper SBT, Turner C, Duff J, Topf A, Yubero D, Jou C, Nascimento A, Ortez C, García-Cazorla A, Gross C, O'Callaghan M, Santra S, Preece MA, Champion M, Korenev S, Chronopoulou E, Anirban M, Pierre G, McArthur D, Thompson K, Navas P, Ribes A, Tort F, Schlüter A, Pujol A, Montero R, Sarquella G, Lochmüller H, Jiménez-Mallebrera C, Taylor RW, Artuch R, Kirschner J, Grünert SC, Roos A, Horvath R. Mingirulli N, et al. Among authors: montero r. J Inherit Metab Dis. 2020 Mar;43(2):297-308. doi: 10.1002/jimd.12156. Epub 2019 Aug 13. J Inherit Metab Dis. 2020. PMID: 31339582 Free PMC article.
Coenzyme Q(10)-responsive ataxia: 2-year-treatment follow-up.
Pineda M, Montero R, Aracil A, O'Callaghan MM, Mas A, Espinos C, Martinez-Rubio D, Palau F, Navas P, Briones P, Artuch R. Pineda M, et al. Among authors: montero r. Mov Disord. 2010 Jul 15;25(9):1262-8. doi: 10.1002/mds.23129. Mov Disord. 2010. PMID: 20629161 Clinical Trial.
Coenzyme Q₁₀ deficiency in mitochondrial DNA depletion syndromes.
Montero R, Grazina M, López-Gallardo E, Montoya J, Briones P, Navarro-Sastre A, Land JM, Hargreaves IP, Artuch R; Coenzyme Q₁₀ Deficiency Study Group. Montero R, et al. Mitochondrion. 2013 Jul;13(4):337-41. doi: 10.1016/j.mito.2013.04.001. Epub 2013 Apr 11. Mitochondrion. 2013. PMID: 23583954
Severe encephalopathy associated to pyruvate dehydrogenase mutations and unbalanced coenzyme Q10 content.
Asencio C, Rodríguez-Hernandez MA, Briones P, Montoya J, Cortés A, Emperador S, Gavilán A, Ruiz-Pesini E, Yubero D, Montero R, Pineda M, O'Callaghan MM, Alcázar-Fabra M, Salviati L, Artuch R, Navas P. Asencio C, et al. Among authors: montero r. Eur J Hum Genet. 2016 Mar;24(3):367-72. doi: 10.1038/ejhg.2015.112. Epub 2015 May 27. Eur J Hum Genet. 2016. PMID: 26014431 Free PMC article.
Molecular diagnosis of coenzyme Q10 deficiency.
Yubero D, Montero R, Armstrong J, Espinós C, Palau F, Santos-Ocaña C, Salviati L, Navas P, Artuch R. Yubero D, et al. Among authors: montero r. Expert Rev Mol Diagn. 2015;15(8):1049-59. doi: 10.1586/14737159.2015.1062727. Epub 2015 Jul 4. Expert Rev Mol Diagn. 2015. PMID: 26144946 Review.
291 results